Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-03

AUTHORS

Guillaume Dorval, Olivier Gribouval, Vanesa Martinez-Barquero, Eduardo Machuca, Marie-Josèphe Tête, Véronique Baudouin, Stéphane Benoit, Imen Chabchoub, Gérard Champion, Dominique Chauveau, Hassib Chehade, Chokri Chouchane, Sylvie Cloarec, Pierre Cochat, Karin Dahan, Jacques Dantal, Yahsou Delmas, Georges Deschênes, Phillippe Dolhem, Dominique Durand, Zelal Ekinci, Khalil El Karoui, Michel Fischbach, Jean-Pierre Grunfeld, Vincent Guigonis, Mongia Hachicha, Julien Hogan, Maryvonne Hourmant, Aurélie Hummel, Nassim Kamar, Thierry Krummel, Didier Lacombe, Brigitte Llanas, Laurent Mesnard, Nabil Mohsin, Patrick Niaudet, Hubert Nivet, Paloma Parvex, Christine Pietrement, Loic de Pontual, Claire Pouteil Noble, David Ribes, Pierre Ronco, Eric Rondeau, Marion Sallee, Michel Tsimaratos, Tim Ulinski, Rémi Salomon, Corinne Antignac, Olivia Boyer

ABSTRACT

BACKGROUND: Familial steroid-sensitive nephrotic syndrome (SSNS) is a rare condition. The disease pathophysiology remains elusive. However, bi-allelic mutations in the EMP2 gene were identified, and specific variations in HLA-DQA1 were linked to a high risk of developing the disease. METHODS: Clinical data were analyzed in 59 SSNS families. EMP2 gene was sequenced in families with a potential autosomal recessive (AR) inheritance. Exome sequencing was performed in a subset of 13 families with potential AR inheritance. Two variations in HLA-DQA1 were genotyped in the whole cohort. RESULTS: Transmission was compatible with an AR (n = 33) or autosomal dominant (AD, n = 26) inheritance, assuming that familial SSNS is a monogenic trait. Clinical features did not differ between AR and AD groups. All patients, including primary (n = 7) and secondary steroid resistant nephrotic syndrone (SRNS), (n = 13) were sensitive to additional immunosuppressive therapy. Both HLA-DQA1 variations were found to be highly linked to the disease (OR = 4.34 and OR = 4.89; p < 0.001). Exome sequencing did not reveal any pathogenic mutation, neither did EMP2 sequencing. CONCLUSIONS: Taken together, these results highlight the clinical and genetic heterogeneity in familial SSNS. Clinical findings sustain an immune origin in all patients, whatever the initial steroid-sensitivity. The absence of a variant shared by two families and the HLA-DQA1 variation enrichments suggest a complex mode of inheritance. More... »

PAGES

473-483

References to SciGraph publications

  • 2013-04. Prediction of steroid-sparing agent use in childhood idiopathic nephrotic syndrome in PEDIATRIC NEPHROLOGY
  • 2007-01. NPHS1 and NPHS2 Gene Mutations in Chinese Children With Sporadic Nephrotic Syndrome in PEDIATRIC RESEARCH
  • 2009-04. Steroid-sensitive nephrotic syndrome in two families in CLINICAL AND EXPERIMENTAL NEPHROLOGY
  • 1991-09. A glomerular permeability factor produced by human T cell hybridomas in KIDNEY INTERNATIONAL
  • 1989-03. Major histocompatibility complex antigens in steroid-responsive nephrotic syndrome in PEDIATRIC NEPHROLOGY
  • 2014-12. Prevalence of herpesviruses at onset of idiopathic nephrotic syndrome in PEDIATRIC NEPHROLOGY
  • 2001-04. Familial steroid-responsive nephrotic syndrome and HLA antigens in Bengali children in PEDIATRIC NEPHROLOGY
  • 2016-12. Epidemiology of idiopathic nephrotic syndrome in children: endemic or epidemic? in PEDIATRIC NEPHROLOGY
  • 1989-12. Frequent relapser minimal change nephrosis: An unrecognized X-linked disorder? in EUROPEAN JOURNAL OF PEDIATRICS
  • 2017-09. Genetics of childhood steroid-sensitive nephrotic syndrome in PEDIATRIC NEPHROLOGY
  • 2007-05. Familial steroid-sensitive nephrotic syndrome in Southern Israel: clinical and genetic observations in PEDIATRIC NEPHROLOGY
  • 2004-08. Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome in KIDNEY INTERNATIONAL
  • 2015-10. A global reference for human genetic variation in NATURE
  • 2016-02. The glomerular permeability factors in idiopathic nephrotic syndrome in PEDIATRIC NEPHROLOGY
  • 2011-10. SignalP 4.0: discriminating signal peptides from transmembrane regions in NATURE METHODS
  • 2012-06. Chapter 14: Anti-glomerular basement membrane antibody glomerulonephritis in KIDNEY INTERNATIONAL SUPPLEMENTS
  • 2016-08. Analysis of protein-coding genetic variation in 60,706 humans in NATURE
  • 1998-06. Idiopathic nephrotic syndrome and hexadactyly in two brothers in PEDIATRIC NEPHROLOGY
  • 2017-02. Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children in CLINICAL AND EXPERIMENTAL NEPHROLOGY
  • 2011-07. Pathogenesis and therapy of focal segmental glomerulosclerosis: an update in PEDIATRIC NEPHROLOGY
  • 2013-12. Two new families with hereditary minimal change disease in BMC NEPHROLOGY
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00467-017-3819-9

    DOI

    http://dx.doi.org/10.1007/s00467-017-3819-9

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1092328538

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/29058154


    Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
    Incoming Citations Browse incoming citations for this publication using opencitations.net

    JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Genetics", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Biological Sciences", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Adolescent", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Adult", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Child", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Child, Preschool", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Female", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Heterogeneity", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Genetic Predisposition to Disease", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Glucocorticoids", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "HLA-DQ alpha-Chains", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Humans", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Infant", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Male", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Membrane Glycoproteins", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Middle Aged", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Mutation", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Nephrotic Syndrome", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Sequence Analysis, DNA", 
            "type": "DefinedTerm"
          }, 
          {
            "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
            "name": "Young Adult", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Imagine Institute for Genetic Diseases", 
              "id": "https://www.grid.ac/institutes/grid.462336.6", 
              "name": [
                "INSERM UMR1163, Laboratory of Hereditary Kidney Diseases, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France", 
                "Paris Descartes-Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Dorval", 
            "givenName": "Guillaume", 
            "id": "sg:person.011531205267.66", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011531205267.66"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Imagine Institute for Genetic Diseases", 
              "id": "https://www.grid.ac/institutes/grid.462336.6", 
              "name": [
                "INSERM UMR1163, Laboratory of Hereditary Kidney Diseases, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France", 
                "Paris Descartes-Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Gribouval", 
            "givenName": "Olivier", 
            "id": "sg:person.01073200660.34", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01073200660.34"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Imagine Institute for Genetic Diseases", 
              "id": "https://www.grid.ac/institutes/grid.462336.6", 
              "name": [
                "INSERM UMR1163, Laboratory of Hereditary Kidney Diseases, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France", 
                "Paris Descartes-Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Martinez-Barquero", 
            "givenName": "Vanesa", 
            "id": "sg:person.01011310422.99", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01011310422.99"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Imagine Institute for Genetic Diseases", 
              "id": "https://www.grid.ac/institutes/grid.462336.6", 
              "name": [
                "INSERM UMR1163, Laboratory of Hereditary Kidney Diseases, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Machuca", 
            "givenName": "Eduardo", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Imagine Institute for Genetic Diseases", 
              "id": "https://www.grid.ac/institutes/grid.462336.6", 
              "name": [
                "INSERM UMR1163, Laboratory of Hereditary Kidney Diseases, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France", 
                "Paris Descartes-Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "T\u00eate", 
            "givenName": "Marie-Jos\u00e8phe", 
            "id": "sg:person.01334101032.31", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01334101032.31"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Robert Debr\u00e9", 
              "id": "https://www.grid.ac/institutes/grid.413235.2", 
              "name": [
                "Department of Pediatric Nephrology, Assistance Publique-H\u00f4pitaux de Paris, Robert Debr\u00e9 Hospital, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Baudouin", 
            "givenName": "V\u00e9ronique", 
            "id": "sg:person.0630037751.14", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0630037751.14"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire de Tours", 
              "id": "https://www.grid.ac/institutes/grid.411167.4", 
              "name": [
                "Department of Nephrology, University Hospital of Tours, Tours, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Benoit", 
            "givenName": "St\u00e9phane", 
            "id": "sg:person.0634031005.32", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0634031005.32"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Sfax", 
              "id": "https://www.grid.ac/institutes/grid.412124.0", 
              "name": [
                "Department of Pediatrics, Sfax University, Sfax, Tunisia"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chabchoub", 
            "givenName": "Imen", 
            "id": "sg:person.01254112321.45", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01254112321.45"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire de Angers", 
              "id": "https://www.grid.ac/institutes/grid.411147.6", 
              "name": [
                "Department of Pediatrics, University Hospital of Angers, Angers, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Champion", 
            "givenName": "G\u00e9rard", 
            "id": "sg:person.01100040717.77", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01100040717.77"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Rangueil", 
              "id": "https://www.grid.ac/institutes/grid.414295.f", 
              "name": [
                "Department of Nephrology and Organ Transplantation, University Hospital Rangueil, Toulouse, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chauveau", 
            "givenName": "Dominique", 
            "id": "sg:person.01101613436.07", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01101613436.07"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University Hospital of Lausanne", 
              "id": "https://www.grid.ac/institutes/grid.8515.9", 
              "name": [
                "Department of Pediatrics, Division of Pediatric Nephrology, Lausanne University Hospital, Lausanne, Switzerland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chehade", 
            "givenName": "Hassib", 
            "id": "sg:person.0726467362.80", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0726467362.80"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Monastir", 
              "id": "https://www.grid.ac/institutes/grid.411838.7", 
              "name": [
                "Department of Pediatrics, Monastir University, Monastir, Tunisia"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Chouchane", 
            "givenName": "Chokri", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire de Tours", 
              "id": "https://www.grid.ac/institutes/grid.411167.4", 
              "name": [
                "Department of Nephrology, University Hospital of Tours, Tours, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Cloarec", 
            "givenName": "Sylvie", 
            "id": "sg:person.01000055212.12", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01000055212.12"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Pediatric Nephrology, Claude-Bernard Lyon 1 University, Bron, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Cochat", 
            "givenName": "Pierre", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Institute of Pathology and Genetics", 
              "id": "https://www.grid.ac/institutes/grid.452439.d", 
              "name": [
                "Department of Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Dahan", 
            "givenName": "Karin", 
            "id": "sg:person.016042200534.41", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016042200534.41"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire de Nantes", 
              "id": "https://www.grid.ac/institutes/grid.277151.7", 
              "name": [
                "Nephrology and Immunology Department, University Hospital of Nantes, Nantes, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Dantal", 
            "givenName": "Jacques", 
            "id": "sg:person.01053773576.24", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01053773576.24"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire de Bordeaux", 
              "id": "https://www.grid.ac/institutes/grid.42399.35", 
              "name": [
                "Department of Nephrology, University Hospital of Bordeaux, Bordeaux, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Delmas", 
            "givenName": "Yahsou", 
            "id": "sg:person.01073665043.11", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01073665043.11"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Robert Debr\u00e9", 
              "id": "https://www.grid.ac/institutes/grid.413235.2", 
              "name": [
                "Department of Pediatric Nephrology, Assistance Publique-H\u00f4pitaux de Paris, Robert Debr\u00e9 Hospital, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Desch\u00eanes", 
            "givenName": "Georges", 
            "id": "sg:person.01345603567.82", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01345603567.82"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Pediatrics, Saint-Quentin Hospital, Saint-Quentin, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Dolhem", 
            "givenName": "Phillippe", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Rangueil", 
              "id": "https://www.grid.ac/institutes/grid.414295.f", 
              "name": [
                "Department of Nephrology and Organ Transplantation, University Hospital Rangueil, Toulouse, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Durand", 
            "givenName": "Dominique", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Kocaeli Academy for Solidarity, Kocaeli, Turkey"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ekinci", 
            "givenName": "Zelal", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Necker-Enfants Malades Hospital", 
              "id": "https://www.grid.ac/institutes/grid.412134.1", 
              "name": [
                "Department of Nephrology, Assistance Publique-H\u00f4pitaux de Paris, Necker-Enfants Malades Hospital, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "El Karoui", 
            "givenName": "Khalil", 
            "id": "sg:person.010772063203.63", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010772063203.63"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital d'Hautepierre", 
              "id": "https://www.grid.ac/institutes/grid.412201.4", 
              "name": [
                "Nephrology Dialysis Transplantation Children\u2019s Unit, University Hospital Hautepierre, Strasbourg, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Fischbach", 
            "givenName": "Michel", 
            "id": "sg:person.01104467150.53", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01104467150.53"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Necker-Enfants Malades Hospital", 
              "id": "https://www.grid.ac/institutes/grid.412134.1", 
              "name": [
                "Department of Nephrology, Assistance Publique-H\u00f4pitaux de Paris, Necker-Enfants Malades Hospital, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Grunfeld", 
            "givenName": "Jean-Pierre", 
            "id": "sg:person.0647641401.62", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0647641401.62"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire de Limoges", 
              "id": "https://www.grid.ac/institutes/grid.411178.a", 
              "name": [
                "Department of Pediatrics, University Hospital of Limoges, Limoges, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Guigonis", 
            "givenName": "Vincent", 
            "id": "sg:person.01233620033.86", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01233620033.86"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University of Sfax", 
              "id": "https://www.grid.ac/institutes/grid.412124.0", 
              "name": [
                "Department of Pediatrics, Sfax University, Sfax, Tunisia"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hachicha", 
            "givenName": "Mongia", 
            "id": "sg:person.01305444570.12", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01305444570.12"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Armand Trousseau", 
              "id": "https://www.grid.ac/institutes/grid.413776.0", 
              "name": [
                "Department of Pediatric Nephrology, Assistance Publique-H\u00f4pitaux de Paris, Armand Trousseau Hospital, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hogan", 
            "givenName": "Julien", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire de Nantes", 
              "id": "https://www.grid.ac/institutes/grid.277151.7", 
              "name": [
                "Nephrology and Immunology Department, University Hospital of Nantes, Nantes, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hourmant", 
            "givenName": "Maryvonne", 
            "id": "sg:person.016204461537.13", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016204461537.13"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Necker-Enfants Malades Hospital", 
              "id": "https://www.grid.ac/institutes/grid.412134.1", 
              "name": [
                "Department of Nephrology, Assistance Publique-H\u00f4pitaux de Paris, Necker-Enfants Malades Hospital, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Hummel", 
            "givenName": "Aur\u00e9lie", 
            "id": "sg:person.01354001724.97", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01354001724.97"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Rangueil", 
              "id": "https://www.grid.ac/institutes/grid.414295.f", 
              "name": [
                "Department of Nephrology and Organ Transplantation, University Hospital Rangueil, Toulouse, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Kamar", 
            "givenName": "Nassim", 
            "id": "sg:person.01070363637.51", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01070363637.51"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital d'Hautepierre", 
              "id": "https://www.grid.ac/institutes/grid.412201.4", 
              "name": [
                "Department of Nephrology, University Hospital Hautepierre, Strasbourg, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Krummel", 
            "givenName": "Thierry", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire de Bordeaux", 
              "id": "https://www.grid.ac/institutes/grid.42399.35", 
              "name": [
                "Department of Genetics, University Hospital of Bordeaux, Bordeaux, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Lacombe", 
            "givenName": "Didier", 
            "id": "sg:person.0642367723.58", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0642367723.58"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire de Bordeaux", 
              "id": "https://www.grid.ac/institutes/grid.42399.35", 
              "name": [
                "Department of Pediatrics, University Hospital of Bordeaux, Bordeaux, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Llanas", 
            "givenName": "Brigitte", 
            "id": "sg:person.01047336100.88", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01047336100.88"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "French Institute of Health and Medical Research", 
              "id": "https://www.grid.ac/institutes/grid.7429.8", 
              "name": [
                "Department of Nephrology and Dialysis, Assistance Publique-H\u00f4pitaux de Paris, Tenon Hospital, Paris, France", 
                "Sorbonne University, UPMC University Paris 06, Paris, France", 
                "INSERM, UMR_S 1155, 75020, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mesnard", 
            "givenName": "Laurent", 
            "id": "sg:person.01001666327.12", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01001666327.12"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Sultan Qaboos University", 
              "id": "https://www.grid.ac/institutes/grid.412846.d", 
              "name": [
                "College of Medicine, Sultan Qaboos University, Muscat, Oman"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Mohsin", 
            "givenName": "Nabil", 
            "id": "sg:person.01306636617.08", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01306636617.08"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Necker-Enfants Malades Hospital", 
              "id": "https://www.grid.ac/institutes/grid.412134.1", 
              "name": [
                "Department of Pediatric Nephrology, Centre de r\u00e9f\u00e9rence du syndrome n\u00e9phrotique idiopathique de l\u2019enfant et l\u2019adulte, Assistance Publique-H\u00f4pitaux de Paris, Necker-Enfants Malades Hospital, Paris, France", 
                "Centre de R\u00e9f\u00e9rence Syndrome N\u00e9phrotique Idiopathique de l\u2019enfant et de l\u2019adulte, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Niaudet", 
            "givenName": "Patrick", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire de Tours", 
              "id": "https://www.grid.ac/institutes/grid.411167.4", 
              "name": [
                "Department of Nephrology, University Hospital of Tours, Tours, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Nivet", 
            "givenName": "Hubert", 
            "id": "sg:person.0705275552.29", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0705275552.29"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "University Hospital of Geneva", 
              "id": "https://www.grid.ac/institutes/grid.150338.c", 
              "name": [
                "Department of Pediatrics, Division of Pediatric Nephrology, Geneva University Hospital, Geneva, Switzerland"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Parvex", 
            "givenName": "Paloma", 
            "id": "sg:person.01044410053.08", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01044410053.08"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Centre Hospitalier Universitaire De Reims", 
              "id": "https://www.grid.ac/institutes/grid.139510.f", 
              "name": [
                "Departement of Pediatrics, Nephrology Unit, University Hospital of Reims, Reims, France", 
                "Faculty of Medicine, Laboratory of Biochemistry and Molecular Biology, UMR, CNRS/URCA n\u00b07369, University of Champagne-Ardenne, Reims, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Pietrement", 
            "givenName": "Christine", 
            "id": "sg:person.01133327740.79", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01133327740.79"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Jean-Verdier", 
              "id": "https://www.grid.ac/institutes/grid.414153.6", 
              "name": [
                "Department of Pediatrics, Assistance Publique-H\u00f4pitaux de Paris, Jean Verdier Hospital, Bondy, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "de Pontual", 
            "givenName": "Loic", 
            "id": "sg:person.01127760476.26", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01127760476.26"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospices Civils de Lyon", 
              "id": "https://www.grid.ac/institutes/grid.413852.9", 
              "name": [
                "Department of Nephrology and Transplantation, University Hospital of Lyon, Lyon, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Noble", 
            "givenName": "Claire Pouteil", 
            "id": "sg:person.013034641021.32", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013034641021.32"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Rangueil", 
              "id": "https://www.grid.ac/institutes/grid.414295.f", 
              "name": [
                "Department of Nephrology and Organ Transplantation, University Hospital Rangueil, Toulouse, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ribes", 
            "givenName": "David", 
            "id": "sg:person.01331313517.99", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01331313517.99"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "French Institute of Health and Medical Research", 
              "id": "https://www.grid.ac/institutes/grid.7429.8", 
              "name": [
                "Department of Nephrology and Dialysis, Assistance Publique-H\u00f4pitaux de Paris, Tenon Hospital, Paris, France", 
                "Sorbonne University, UPMC University Paris 06, Paris, France", 
                "INSERM, UMR_S 1155, 75020, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ronco", 
            "givenName": "Pierre", 
            "id": "sg:person.0650367411.09", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0650367411.09"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "name": [
                "Department of Nephrology and Dialysis, Assistance Publique-H\u00f4pitaux de Paris, Tenon Hospital, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Rondeau", 
            "givenName": "Eric", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital de la Conception", 
              "id": "https://www.grid.ac/institutes/grid.411535.7", 
              "name": [
                "Department of Nephrology and Kidney Transplantation, The Conception Hospital, Marseille, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Sallee", 
            "givenName": "Marion", 
            "id": "sg:person.01262431555.58", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01262431555.58"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Aix-Marseille University", 
              "id": "https://www.grid.ac/institutes/grid.5399.6", 
              "name": [
                "Department of Multidisciplinary Pediatrics Timone, Assistance Publique H\u00f4pitaux de Marseille, Aix-Marseille University, Marseille, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Tsimaratos", 
            "givenName": "Michel", 
            "id": "sg:person.01125060332.86", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01125060332.86"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "H\u00f4pital Armand Trousseau", 
              "id": "https://www.grid.ac/institutes/grid.413776.0", 
              "name": [
                "Department of Pediatric Nephrology, Assistance Publique-H\u00f4pitaux de Paris, Armand Trousseau Hospital, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Ulinski", 
            "givenName": "Tim", 
            "id": "sg:person.01246202405.29", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01246202405.29"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Necker-Enfants Malades Hospital", 
              "id": "https://www.grid.ac/institutes/grid.412134.1", 
              "name": [
                "INSERM UMR1163, Laboratory of Hereditary Kidney Diseases, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France", 
                "Paris Descartes-Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France", 
                "Department of Pediatric Nephrology, Centre de r\u00e9f\u00e9rence du syndrome n\u00e9phrotique idiopathique de l\u2019enfant et l\u2019adulte, Assistance Publique-H\u00f4pitaux de Paris, Necker-Enfants Malades Hospital, Paris, France", 
                "Centre de R\u00e9f\u00e9rence Syndrome N\u00e9phrotique Idiopathique de l\u2019enfant et de l\u2019adulte, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Salomon", 
            "givenName": "R\u00e9mi", 
            "id": "sg:person.01014720134.75", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01014720134.75"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Necker-Enfants Malades Hospital", 
              "id": "https://www.grid.ac/institutes/grid.412134.1", 
              "name": [
                "INSERM UMR1163, Laboratory of Hereditary Kidney Diseases, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France", 
                "Paris Descartes-Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France", 
                "Centre de R\u00e9f\u00e9rence Syndrome N\u00e9phrotique Idiopathique de l\u2019enfant et de l\u2019adulte, Paris, France", 
                "Department of Genetics, Assistance Publique-H\u00f4pitaux de Paris, Necker-Enfants malades Hospital, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Antignac", 
            "givenName": "Corinne", 
            "id": "sg:person.01112656133.44", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01112656133.44"
            ], 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Necker-Enfants Malades Hospital", 
              "id": "https://www.grid.ac/institutes/grid.412134.1", 
              "name": [
                "INSERM UMR1163, Laboratory of Hereditary Kidney Diseases, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France", 
                "Paris Descartes-Sorbonne Paris Cit\u00e9 University, Imagine Institute, Paris, France", 
                "Department of Pediatric Nephrology, Centre de r\u00e9f\u00e9rence du syndrome n\u00e9phrotique idiopathique de l\u2019enfant et l\u2019adulte, Assistance Publique-H\u00f4pitaux de Paris, Necker-Enfants Malades Hospital, Paris, France", 
                "Centre de R\u00e9f\u00e9rence Syndrome N\u00e9phrotique Idiopathique de l\u2019enfant et de l\u2019adulte, Paris, France"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Boyer", 
            "givenName": "Olivia", 
            "id": "sg:person.01146710017.26", 
            "sameAs": [
              "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01146710017.26"
            ], 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "https://doi.org/10.1542/peds.2008-1559", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000683517"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1074/jbc.m702117200", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1003705350"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0140-6736(72)91734-5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004081040"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0140-6736(72)91734-5", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004081040"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1038/sj.emboj.7601014", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005037572"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1038/sj.emboj.7601014", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005037572"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/nar/29.1.308", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1005817660"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00467-014-2860-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1007226870", 
              "https://doi.org/10.1007/s00467-014-2860-1"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddp328", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008796718"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/hmg/ddp328", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1008796718"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1056/nejm200102013440517", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1009139407"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00467-006-0409-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012480610", 
              "https://doi.org/10.1007/s00467-006-0409-7"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00467-006-0409-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1012480610", 
              "https://doi.org/10.1007/s00467-006-0409-7"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1681/asn.2013080852", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013403032"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1681/asn.2013080852", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013403032"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1681/asn.2013080852", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1013403032"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/bf00859622", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014306517", 
              "https://doi.org/10.1007/bf00859622"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0140-6736(74)91880-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017067259"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0140-6736(74)91880-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017067259"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1056/nejm199401063300102", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017692411"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1056/nejm199604043341402", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018659571"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00467-016-3456-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018896214", 
              "https://doi.org/10.1007/s00467-016-3456-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00467-016-3456-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018896214", 
              "https://doi.org/10.1007/s00467-016-3456-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00467-016-3456-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1018896214", 
              "https://doi.org/10.1007/s00467-016-3456-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/0002-9343(74)90748-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1019962195"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/humu.22844", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020371094"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1203/01.pdr.0000250041.19306.3d", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020743174", 
              "https://doi.org/10.1203/01.pdr.0000250041.19306.3d"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1203/01.pdr.0000250041.19306.3d", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020743174", 
              "https://doi.org/10.1203/01.pdr.0000250041.19306.3d"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1203/01.pdr.0000250041.19306.3d", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1020743174", 
              "https://doi.org/10.1203/01.pdr.0000250041.19306.3d"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature15393", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1021812064", 
              "https://doi.org/10.1038/nature15393"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nature19057", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022281897", 
              "https://doi.org/10.1038/nature19057"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s004670050478", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022433707", 
              "https://doi.org/10.1007/s004670050478"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0022-3476(81)80760-3", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1022626465"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.2215/cjn.03910808", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1023696450"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/kisup.2012.27", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1024851361", 
              "https://doi.org/10.1038/kisup.2012.27"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00467-015-3082-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025202300", 
              "https://doi.org/10.1007/s00467-015-3082-x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00467-015-3082-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025202300", 
              "https://doi.org/10.1007/s00467-015-3082-x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ajhg.2014.04.010", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025373836"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ajhg.2014.04.010", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1025373836"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10157-016-1237-0", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027495727", 
              "https://doi.org/10.1007/s10157-016-1237-0"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/bf01958283", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027540931", 
              "https://doi.org/10.1007/bf01958283"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/bf01958283", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1027540931", 
              "https://doi.org/10.1007/bf01958283"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1001/archpedi.1971.02100160098015", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029052502"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10157-008-0117-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031288712", 
              "https://doi.org/10.1007/s10157-008-0117-7"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10157-008-0117-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031288712", 
              "https://doi.org/10.1007/s10157-008-0117-7"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s10157-008-0117-7", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1031288712", 
              "https://doi.org/10.1007/s10157-008-0117-7"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.6061/clinics/2013(05)08", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1033203404"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1111/j.1523-1755.2004.00775.x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1034192510", 
              "https://doi.org/10.1111/j.1523-1755.2004.00775.x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00467-010-1692-x", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037832017", 
              "https://doi.org/10.1007/s00467-010-1692-x"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s004670000549", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039176417", 
              "https://doi.org/10.1007/s004670000549"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1186/1471-2369-14-65", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1045277817", 
              "https://doi.org/10.1186/1471-2369-14-65"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1681/asn.2007080842", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046597108"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1681/asn.2007080842", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046597108"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00467-016-3509-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046874993", 
              "https://doi.org/10.1007/s00467-016-3509-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00467-016-3509-z", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1046874993", 
              "https://doi.org/10.1007/s00467-016-3509-z"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/s00467-012-2365-8", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1048990119", 
              "https://doi.org/10.1007/s00467-012-2365-8"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1681/asn.2014030247", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049522560"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1681/asn.2014030247", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049522560"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/nmeth.1701", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1049894869", 
              "https://doi.org/10.1038/nmeth.1701"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1038/ki.1991.232", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1050553313", 
              "https://doi.org/10.1038/ki.1991.232"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/ndt/gfv355", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1059933204"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1093/ndt/gfv355", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1059933204"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1097/01.asn.0000070070.03811.02", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1060319177"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1097/01.asn.0000070070.03811.02", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1060319177"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1097/01.asn.0000070070.03811.02", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1060319177"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1074750918", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1078647421", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1080190058", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1080590618", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1081694994", 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2018-03", 
        "datePublishedReg": "2018-03-01", 
        "description": "BACKGROUND: Familial steroid-sensitive nephrotic syndrome (SSNS) is a rare condition. The disease pathophysiology remains elusive. However, bi-allelic mutations in the EMP2 gene were identified, and specific variations in HLA-DQA1 were linked to a high risk of developing the disease.\nMETHODS: Clinical data were analyzed in 59 SSNS families. EMP2 gene was sequenced in families with a potential autosomal recessive (AR) inheritance. Exome sequencing was performed in a subset of 13 families with potential AR inheritance. Two variations in HLA-DQA1 were genotyped in the whole cohort.\nRESULTS: Transmission was compatible with an AR (n\u00a0=\u00a033) or autosomal dominant (AD, n\u00a0=\u00a026) inheritance, assuming that familial SSNS is a monogenic trait. Clinical features did not differ between AR and AD groups. All patients, including primary (n\u00a0=\u00a07) and secondary steroid resistant nephrotic syndrone (SRNS), (n\u00a0=\u00a013) were sensitive to additional immunosuppressive therapy. Both HLA-DQA1 variations were found to be highly linked to the disease (OR\u00a0=\u00a04.34 and OR\u00a0=\u00a04.89; p\u00a0<\u00a00.001). Exome sequencing did not reveal any pathogenic mutation, neither did EMP2 sequencing.\nCONCLUSIONS: Taken together, these results highlight the clinical and genetic heterogeneity in familial SSNS. Clinical findings sustain an immune origin in all patients, whatever the initial steroid-sensitivity. The absence of a variant shared by two families and the HLA-DQA1 variation enrichments suggest a complex mode of inheritance.", 
        "genre": "research_article", 
        "id": "sg:pub.10.1007/s00467-017-3819-9", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": false, 
        "isPartOf": [
          {
            "id": "sg:journal.1097267", 
            "issn": [
              "0931-041X", 
              "1432-198X"
            ], 
            "name": "Pediatric Nephrology", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "3", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "33"
          }
        ], 
        "name": "Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome", 
        "pagination": "473-483", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "0ea2d747c602913e7c074021aeea972b325be5605fdef297f915c3465e2c0c44"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "29058154"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "8708728"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1007/s00467-017-3819-9"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1092328538"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1007/s00467-017-3819-9", 
          "https://app.dimensions.ai/details/publication/pub.1092328538"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-11T12:13", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000361_0000000361/records_53999_00000001.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://link.springer.com/10.1007%2Fs00467-017-3819-9"
      }
    ]
     

    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s00467-017-3819-9'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s00467-017-3819-9'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s00467-017-3819-9'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s00467-017-3819-9'


     

    This table displays all metadata directly associated to this object as RDF triples.

    720 TRIPLES      21 PREDICATES      95 URIs      39 LITERALS      27 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1007/s00467-017-3819-9 schema:about N0705f63107cd4131a9ef55b877fa053e
    2 N10f105935ce846c88c1e426504b88d15
    3 N20dd016c7fc242b187647ad5e7ef9941
    4 N245706d133b84076a5e3335e246411c2
    5 N30f390df5fcb4488a0691f4d0ad62f96
    6 N3a60df4b176f45c28d26305b51b8f559
    7 N5145b89c34bc4560b2c040e17c726c83
    8 N57c2a80eae1a4f798b004ed1f2e9476c
    9 N6ac77f78626346a9b0e7226a5c3c4c9a
    10 N880e1fe881f843b8a7d200fdee9625a9
    11 N9259bdef48ef476f90b907c24a9622f7
    12 N99b063cab57d4756b305a09c1f6005d5
    13 Na2fea07398434615aaff913ab7c2a3c5
    14 Nc5c5a23818b34df8b3819dae33e89136
    15 Ncf06a6b139d94c5dba6f98078f783d41
    16 Nd7fa8108e3694265afcd709ae13a1eb7
    17 Nf8d9d179504a43b0892488e1f27a2f28
    18 Nf9939ee569364b91b400fff2bd593ce9
    19 anzsrc-for:06
    20 anzsrc-for:0604
    21 schema:author N46629d02b068434e947f71f9685905db
    22 schema:citation sg:pub.10.1007/bf00859622
    23 sg:pub.10.1007/bf01958283
    24 sg:pub.10.1007/s00467-006-0409-7
    25 sg:pub.10.1007/s00467-010-1692-x
    26 sg:pub.10.1007/s00467-012-2365-8
    27 sg:pub.10.1007/s00467-014-2860-1
    28 sg:pub.10.1007/s00467-015-3082-x
    29 sg:pub.10.1007/s00467-016-3456-8
    30 sg:pub.10.1007/s00467-016-3509-z
    31 sg:pub.10.1007/s004670000549
    32 sg:pub.10.1007/s004670050478
    33 sg:pub.10.1007/s10157-008-0117-7
    34 sg:pub.10.1007/s10157-016-1237-0
    35 sg:pub.10.1038/ki.1991.232
    36 sg:pub.10.1038/kisup.2012.27
    37 sg:pub.10.1038/nature15393
    38 sg:pub.10.1038/nature19057
    39 sg:pub.10.1038/nmeth.1701
    40 sg:pub.10.1111/j.1523-1755.2004.00775.x
    41 sg:pub.10.1186/1471-2369-14-65
    42 sg:pub.10.1203/01.pdr.0000250041.19306.3d
    43 https://app.dimensions.ai/details/publication/pub.1074750918
    44 https://app.dimensions.ai/details/publication/pub.1078647421
    45 https://app.dimensions.ai/details/publication/pub.1080190058
    46 https://app.dimensions.ai/details/publication/pub.1080590618
    47 https://app.dimensions.ai/details/publication/pub.1081694994
    48 https://doi.org/10.1001/archpedi.1971.02100160098015
    49 https://doi.org/10.1002/humu.22844
    50 https://doi.org/10.1016/0002-9343(74)90748-7
    51 https://doi.org/10.1016/j.ajhg.2014.04.010
    52 https://doi.org/10.1016/s0022-3476(81)80760-3
    53 https://doi.org/10.1016/s0140-6736(72)91734-5
    54 https://doi.org/10.1016/s0140-6736(74)91880-7
    55 https://doi.org/10.1038/sj.emboj.7601014
    56 https://doi.org/10.1056/nejm199401063300102
    57 https://doi.org/10.1056/nejm199604043341402
    58 https://doi.org/10.1056/nejm200102013440517
    59 https://doi.org/10.1074/jbc.m702117200
    60 https://doi.org/10.1093/hmg/ddp328
    61 https://doi.org/10.1093/nar/29.1.308
    62 https://doi.org/10.1093/ndt/gfv355
    63 https://doi.org/10.1097/01.asn.0000070070.03811.02
    64 https://doi.org/10.1542/peds.2008-1559
    65 https://doi.org/10.1681/asn.2007080842
    66 https://doi.org/10.1681/asn.2013080852
    67 https://doi.org/10.1681/asn.2014030247
    68 https://doi.org/10.2215/cjn.03910808
    69 https://doi.org/10.6061/clinics/2013(05)08
    70 schema:datePublished 2018-03
    71 schema:datePublishedReg 2018-03-01
    72 schema:description BACKGROUND: Familial steroid-sensitive nephrotic syndrome (SSNS) is a rare condition. The disease pathophysiology remains elusive. However, bi-allelic mutations in the EMP2 gene were identified, and specific variations in HLA-DQA1 were linked to a high risk of developing the disease. METHODS: Clinical data were analyzed in 59 SSNS families. EMP2 gene was sequenced in families with a potential autosomal recessive (AR) inheritance. Exome sequencing was performed in a subset of 13 families with potential AR inheritance. Two variations in HLA-DQA1 were genotyped in the whole cohort. RESULTS: Transmission was compatible with an AR (n = 33) or autosomal dominant (AD, n = 26) inheritance, assuming that familial SSNS is a monogenic trait. Clinical features did not differ between AR and AD groups. All patients, including primary (n = 7) and secondary steroid resistant nephrotic syndrone (SRNS), (n = 13) were sensitive to additional immunosuppressive therapy. Both HLA-DQA1 variations were found to be highly linked to the disease (OR = 4.34 and OR = 4.89; p < 0.001). Exome sequencing did not reveal any pathogenic mutation, neither did EMP2 sequencing. CONCLUSIONS: Taken together, these results highlight the clinical and genetic heterogeneity in familial SSNS. Clinical findings sustain an immune origin in all patients, whatever the initial steroid-sensitivity. The absence of a variant shared by two families and the HLA-DQA1 variation enrichments suggest a complex mode of inheritance.
    73 schema:genre research_article
    74 schema:inLanguage en
    75 schema:isAccessibleForFree false
    76 schema:isPartOf N299b9bb1dffe466ca59cf7b206f2b658
    77 N4301a044b6024a53825d603204a229fd
    78 sg:journal.1097267
    79 schema:name Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome
    80 schema:pagination 473-483
    81 schema:productId N5e30e27e85004badbf7581f4a6cdc860
    82 Nac56bf4afcbf4ea397b7ddc506152ccd
    83 Nb9b02b39c9e8487b81591984db8f1d92
    84 Nd045b061d1d74030a5095d17f5049daf
    85 Ndf37edcf681c42cbaf8aa885a2466659
    86 schema:sameAs https://app.dimensions.ai/details/publication/pub.1092328538
    87 https://doi.org/10.1007/s00467-017-3819-9
    88 schema:sdDatePublished 2019-04-11T12:13
    89 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    90 schema:sdPublisher N683e3f0109c34163ab71564c5ae111f1
    91 schema:url https://link.springer.com/10.1007%2Fs00467-017-3819-9
    92 sgo:license sg:explorer/license/
    93 sgo:sdDataset articles
    94 rdf:type schema:ScholarlyArticle
    95 N012aca666baa4536a2d94dd133ed4093 rdf:first sg:person.01073200660.34
    96 rdf:rest N9a42f5b5a650424fbd26d5450f002100
    97 N0705f63107cd4131a9ef55b877fa053e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    98 schema:name Mutation
    99 rdf:type schema:DefinedTerm
    100 N0740eb15be984efe9a3e48a024bd78ad rdf:first sg:person.01246202405.29
    101 rdf:rest Nbbbc1daa79f94169997c21fb510b7b39
    102 N074c1807eaf446b09667796e09e8be5f rdf:first sg:person.01001666327.12
    103 rdf:rest N9a37302bc03f4181b1bcea20e74a3cc9
    104 N0b90be160cd74928b1b7203ccf3de67b rdf:first Nfbd5d378479b498f8639d6adeab33b2b
    105 rdf:rest Nf24ebddab1a04e5e99d5dc7091b9e5d6
    106 N0fb0c746a6e24cd5b09195d8ca034cb5 rdf:first sg:person.01331313517.99
    107 rdf:rest Nc4ba4663dc344f82abf5bf7134b7e37f
    108 N1033514ddd9b4aa49302de09465af48d rdf:first sg:person.01112656133.44
    109 rdf:rest Nbbeb014ed806495a9e0e83b311b75bc5
    110 N10f105935ce846c88c1e426504b88d15 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    111 schema:name Nephrotic Syndrome
    112 rdf:type schema:DefinedTerm
    113 N15e14da9b23b4294a644a9bfb98d68cf rdf:first sg:person.01334101032.31
    114 rdf:rest Nad2abfe519cd49888fed9fdb5f7986cc
    115 N17c6f5686db04ab8a8f881ae49a9bc48 schema:affiliation https://www.grid.ac/institutes/grid.414295.f
    116 schema:familyName Durand
    117 schema:givenName Dominique
    118 rdf:type schema:Person
    119 N19357c5e83bd42af946cc8bf91bae24b rdf:first sg:person.01101613436.07
    120 rdf:rest Nb3423af553be4dd186422b92a0335b3a
    121 N1eb53f9d66ca4497adffe006c4d0c4b1 schema:affiliation Ne876693191e947bdb77abadc7b57bdf4
    122 schema:familyName Dolhem
    123 schema:givenName Phillippe
    124 rdf:type schema:Person
    125 N20dd016c7fc242b187647ad5e7ef9941 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    126 schema:name Membrane Glycoproteins
    127 rdf:type schema:DefinedTerm
    128 N245706d133b84076a5e3335e246411c2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    129 schema:name Infant
    130 rdf:type schema:DefinedTerm
    131 N2472d7fe47a5430d9fac8355b916d312 rdf:first N4e77d941d23e4e94ba5cda1f9613b587
    132 rdf:rest N15e14da9b23b4294a644a9bfb98d68cf
    133 N249ab553764e484398d8d02dd945dd4f schema:affiliation https://www.grid.ac/institutes/grid.411838.7
    134 schema:familyName Chouchane
    135 schema:givenName Chokri
    136 rdf:type schema:Person
    137 N299b9bb1dffe466ca59cf7b206f2b658 schema:volumeNumber 33
    138 rdf:type schema:PublicationVolume
    139 N2b468dcd395b4b848f45a319e5eb4ad1 rdf:first sg:person.01354001724.97
    140 rdf:rest Ncfe71654d4764ed9991024be0847b1ac
    141 N301127dc58cf41eb83af7d2e2e9de4c6 rdf:first sg:person.01233620033.86
    142 rdf:rest N69b9d10fdf7d4c07b74ddc9e25d445ef
    143 N30f390df5fcb4488a0691f4d0ad62f96 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    144 schema:name Sequence Analysis, DNA
    145 rdf:type schema:DefinedTerm
    146 N35251a05ed6d47d387ede727591ef7b9 rdf:first N9707049e5b394f4cbcad18448bfcce73
    147 rdf:rest Nc8ba3724792f4fc1845fe65ee51eda90
    148 N3914d7d6c54b407f8de6f194692cddb2 schema:name Department of Pediatric Nephrology, Claude-Bernard Lyon 1 University, Bron, France
    149 rdf:type schema:Organization
    150 N3a60df4b176f45c28d26305b51b8f559 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    151 schema:name Genetic Heterogeneity
    152 rdf:type schema:DefinedTerm
    153 N4301a044b6024a53825d603204a229fd schema:issueNumber 3
    154 rdf:type schema:PublicationIssue
    155 N46629d02b068434e947f71f9685905db rdf:first sg:person.011531205267.66
    156 rdf:rest N012aca666baa4536a2d94dd133ed4093
    157 N46918d98587f4b92b7c64012af80333f rdf:first sg:person.01073665043.11
    158 rdf:rest Naae88b18c9ba44c9bacc6a80655060f8
    159 N476664165d4c464394341ce5fdbd0394 rdf:first sg:person.01044410053.08
    160 rdf:rest N6c66468cf83a4f4784919d84781ae794
    161 N4b5da65032b44b65be109d88c8f50ca4 rdf:first N17c6f5686db04ab8a8f881ae49a9bc48
    162 rdf:rest Nacc79352775f45de96dbd63ac8d059a0
    163 N4e77d941d23e4e94ba5cda1f9613b587 schema:affiliation https://www.grid.ac/institutes/grid.462336.6
    164 schema:familyName Machuca
    165 schema:givenName Eduardo
    166 rdf:type schema:Person
    167 N5145b89c34bc4560b2c040e17c726c83 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    168 schema:name Genetic Predisposition to Disease
    169 rdf:type schema:DefinedTerm
    170 N51952125f91d47a58b471943ad921c86 rdf:first sg:person.01104467150.53
    171 rdf:rest N765dd286b1f1414f95d4a70c2023f2ca
    172 N57c2a80eae1a4f798b004ed1f2e9476c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    173 schema:name Adult
    174 rdf:type schema:DefinedTerm
    175 N5e30e27e85004badbf7581f4a6cdc860 schema:name pubmed_id
    176 schema:value 29058154
    177 rdf:type schema:PropertyValue
    178 N683e3f0109c34163ab71564c5ae111f1 schema:name Springer Nature - SN SciGraph project
    179 rdf:type schema:Organization
    180 N69b9d10fdf7d4c07b74ddc9e25d445ef rdf:first sg:person.01305444570.12
    181 rdf:rest N75c2b93c61a24793827cb25ee6d5c93d
    182 N6ac77f78626346a9b0e7226a5c3c4c9a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    183 schema:name HLA-DQ alpha-Chains
    184 rdf:type schema:DefinedTerm
    185 N6c66468cf83a4f4784919d84781ae794 rdf:first sg:person.01133327740.79
    186 rdf:rest N9671a185e5434c619b10356eb616965e
    187 N75c2b93c61a24793827cb25ee6d5c93d rdf:first N864af4676fab46cbbf554ec6396fffe7
    188 rdf:rest Nf683a78813534226acdd0663d1757f17
    189 N765dd286b1f1414f95d4a70c2023f2ca rdf:first sg:person.0647641401.62
    190 rdf:rest N301127dc58cf41eb83af7d2e2e9de4c6
    191 N7a3d20ef735c4c1fabbda386f6fc48a2 rdf:first sg:person.01047336100.88
    192 rdf:rest N074c1807eaf446b09667796e09e8be5f
    193 N864af4676fab46cbbf554ec6396fffe7 schema:affiliation https://www.grid.ac/institutes/grid.413776.0
    194 schema:familyName Hogan
    195 schema:givenName Julien
    196 rdf:type schema:Person
    197 N876c10f99d2844a29777c7044b3de066 rdf:first sg:person.010772063203.63
    198 rdf:rest N51952125f91d47a58b471943ad921c86
    199 N880e1fe881f843b8a7d200fdee9625a9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    200 schema:name Female
    201 rdf:type schema:DefinedTerm
    202 N8ef39bd845044c1c99e22f06775eb248 schema:affiliation Ne18c4582fcf24f5ba5ce4ba25835715e
    203 schema:familyName Rondeau
    204 schema:givenName Eric
    205 rdf:type schema:Person
    206 N9259bdef48ef476f90b907c24a9622f7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    207 schema:name Glucocorticoids
    208 rdf:type schema:DefinedTerm
    209 N9451e0c5790441e1bc30e4ad2b060fb6 rdf:first sg:person.0705275552.29
    210 rdf:rest N476664165d4c464394341ce5fdbd0394
    211 N9671a185e5434c619b10356eb616965e rdf:first sg:person.01127760476.26
    212 rdf:rest Nab4cc76b6eb04ed18e27755540425268
    213 N9707049e5b394f4cbcad18448bfcce73 schema:affiliation https://www.grid.ac/institutes/grid.412201.4
    214 schema:familyName Krummel
    215 schema:givenName Thierry
    216 rdf:type schema:Person
    217 N994161ef62864deabdf60d730e5c3a8f rdf:first N249ab553764e484398d8d02dd945dd4f
    218 rdf:rest Nc3db3acd84dc450eb5f69a1767433e36
    219 N99b063cab57d4756b305a09c1f6005d5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    220 schema:name Young Adult
    221 rdf:type schema:DefinedTerm
    222 N9a37302bc03f4181b1bcea20e74a3cc9 rdf:first sg:person.01306636617.08
    223 rdf:rest Ne4e98e5ad04c4984ad947bd5833d1b0e
    224 N9a42f5b5a650424fbd26d5450f002100 rdf:first sg:person.01011310422.99
    225 rdf:rest N2472d7fe47a5430d9fac8355b916d312
    226 N9b111306a8cb435bbef2e277ce1e4a99 schema:affiliation Ne851e03d88b147d8b94379f9587d57b4
    227 schema:familyName Ekinci
    228 schema:givenName Zelal
    229 rdf:type schema:Person
    230 N9b4bfaacf44546f388efce7d53520cf3 rdf:first N8ef39bd845044c1c99e22f06775eb248
    231 rdf:rest Na32873c774c844239c9c02f3c48d1ed3
    232 Na2fea07398434615aaff913ab7c2a3c5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    233 schema:name Middle Aged
    234 rdf:type schema:DefinedTerm
    235 Na32873c774c844239c9c02f3c48d1ed3 rdf:first sg:person.01262431555.58
    236 rdf:rest Nc8a40dc4e5e24ed5a303cdc6cadd6ca6
    237 Naae88b18c9ba44c9bacc6a80655060f8 rdf:first sg:person.01345603567.82
    238 rdf:rest Nfeab2453ca4c4b86a6562e36d8d4a014
    239 Nab4cc76b6eb04ed18e27755540425268 rdf:first sg:person.013034641021.32
    240 rdf:rest N0fb0c746a6e24cd5b09195d8ca034cb5
    241 Nac56bf4afcbf4ea397b7ddc506152ccd schema:name dimensions_id
    242 schema:value pub.1092328538
    243 rdf:type schema:PropertyValue
    244 Nacc79352775f45de96dbd63ac8d059a0 rdf:first N9b111306a8cb435bbef2e277ce1e4a99
    245 rdf:rest N876c10f99d2844a29777c7044b3de066
    246 Nad2abfe519cd49888fed9fdb5f7986cc rdf:first sg:person.0630037751.14
    247 rdf:rest Nda11392c822945e0898afc1783825e76
    248 Nb3423af553be4dd186422b92a0335b3a rdf:first sg:person.0726467362.80
    249 rdf:rest N994161ef62864deabdf60d730e5c3a8f
    250 Nb9b02b39c9e8487b81591984db8f1d92 schema:name doi
    251 schema:value 10.1007/s00467-017-3819-9
    252 rdf:type schema:PropertyValue
    253 Nbbbc1daa79f94169997c21fb510b7b39 rdf:first sg:person.01014720134.75
    254 rdf:rest N1033514ddd9b4aa49302de09465af48d
    255 Nbbeb014ed806495a9e0e83b311b75bc5 rdf:first sg:person.01146710017.26
    256 rdf:rest rdf:nil
    257 Nc3db3acd84dc450eb5f69a1767433e36 rdf:first sg:person.01000055212.12
    258 rdf:rest N0b90be160cd74928b1b7203ccf3de67b
    259 Nc4ba4663dc344f82abf5bf7134b7e37f rdf:first sg:person.0650367411.09
    260 rdf:rest N9b4bfaacf44546f388efce7d53520cf3
    261 Nc5c5a23818b34df8b3819dae33e89136 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    262 schema:name Humans
    263 rdf:type schema:DefinedTerm
    264 Nc8a40dc4e5e24ed5a303cdc6cadd6ca6 rdf:first sg:person.01125060332.86
    265 rdf:rest N0740eb15be984efe9a3e48a024bd78ad
    266 Nc8ba3724792f4fc1845fe65ee51eda90 rdf:first sg:person.0642367723.58
    267 rdf:rest N7a3d20ef735c4c1fabbda386f6fc48a2
    268 Ncf06a6b139d94c5dba6f98078f783d41 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    269 schema:name Child, Preschool
    270 rdf:type schema:DefinedTerm
    271 Ncfe71654d4764ed9991024be0847b1ac rdf:first sg:person.01070363637.51
    272 rdf:rest N35251a05ed6d47d387ede727591ef7b9
    273 Nd045b061d1d74030a5095d17f5049daf schema:name readcube_id
    274 schema:value 0ea2d747c602913e7c074021aeea972b325be5605fdef297f915c3465e2c0c44
    275 rdf:type schema:PropertyValue
    276 Nd1007d7a64c54fbb95c0c2b6bea1decf rdf:first sg:person.01100040717.77
    277 rdf:rest N19357c5e83bd42af946cc8bf91bae24b
    278 Nd6476814eb9f488398b27f2c3bb296a8 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
    279 schema:familyName Niaudet
    280 schema:givenName Patrick
    281 rdf:type schema:Person
    282 Nd7fa8108e3694265afcd709ae13a1eb7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    283 schema:name Child
    284 rdf:type schema:DefinedTerm
    285 Nda11392c822945e0898afc1783825e76 rdf:first sg:person.0634031005.32
    286 rdf:rest Ne0a918e968004974abdfe1eb03f1ec37
    287 Ndd0df17c45af4ec79c5628816d6a4ea5 rdf:first sg:person.01053773576.24
    288 rdf:rest N46918d98587f4b92b7c64012af80333f
    289 Ndf37edcf681c42cbaf8aa885a2466659 schema:name nlm_unique_id
    290 schema:value 8708728
    291 rdf:type schema:PropertyValue
    292 Ne0a918e968004974abdfe1eb03f1ec37 rdf:first sg:person.01254112321.45
    293 rdf:rest Nd1007d7a64c54fbb95c0c2b6bea1decf
    294 Ne18c4582fcf24f5ba5ce4ba25835715e schema:name Department of Nephrology and Dialysis, Assistance Publique-Hôpitaux de Paris, Tenon Hospital, Paris, France
    295 rdf:type schema:Organization
    296 Ne4e98e5ad04c4984ad947bd5833d1b0e rdf:first Nd6476814eb9f488398b27f2c3bb296a8
    297 rdf:rest N9451e0c5790441e1bc30e4ad2b060fb6
    298 Ne851e03d88b147d8b94379f9587d57b4 schema:name Kocaeli Academy for Solidarity, Kocaeli, Turkey
    299 rdf:type schema:Organization
    300 Ne876693191e947bdb77abadc7b57bdf4 schema:name Department of Pediatrics, Saint-Quentin Hospital, Saint-Quentin, France
    301 rdf:type schema:Organization
    302 Nf24ebddab1a04e5e99d5dc7091b9e5d6 rdf:first sg:person.016042200534.41
    303 rdf:rest Ndd0df17c45af4ec79c5628816d6a4ea5
    304 Nf683a78813534226acdd0663d1757f17 rdf:first sg:person.016204461537.13
    305 rdf:rest N2b468dcd395b4b848f45a319e5eb4ad1
    306 Nf8d9d179504a43b0892488e1f27a2f28 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    307 schema:name Male
    308 rdf:type schema:DefinedTerm
    309 Nf9939ee569364b91b400fff2bd593ce9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
    310 schema:name Adolescent
    311 rdf:type schema:DefinedTerm
    312 Nfbd5d378479b498f8639d6adeab33b2b schema:affiliation N3914d7d6c54b407f8de6f194692cddb2
    313 schema:familyName Cochat
    314 schema:givenName Pierre
    315 rdf:type schema:Person
    316 Nfeab2453ca4c4b86a6562e36d8d4a014 rdf:first N1eb53f9d66ca4497adffe006c4d0c4b1
    317 rdf:rest N4b5da65032b44b65be109d88c8f50ca4
    318 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
    319 schema:name Biological Sciences
    320 rdf:type schema:DefinedTerm
    321 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
    322 schema:name Genetics
    323 rdf:type schema:DefinedTerm
    324 sg:journal.1097267 schema:issn 0931-041X
    325 1432-198X
    326 schema:name Pediatric Nephrology
    327 rdf:type schema:Periodical
    328 sg:person.01000055212.12 schema:affiliation https://www.grid.ac/institutes/grid.411167.4
    329 schema:familyName Cloarec
    330 schema:givenName Sylvie
    331 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01000055212.12
    332 rdf:type schema:Person
    333 sg:person.01001666327.12 schema:affiliation https://www.grid.ac/institutes/grid.7429.8
    334 schema:familyName Mesnard
    335 schema:givenName Laurent
    336 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01001666327.12
    337 rdf:type schema:Person
    338 sg:person.01011310422.99 schema:affiliation https://www.grid.ac/institutes/grid.462336.6
    339 schema:familyName Martinez-Barquero
    340 schema:givenName Vanesa
    341 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01011310422.99
    342 rdf:type schema:Person
    343 sg:person.01014720134.75 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
    344 schema:familyName Salomon
    345 schema:givenName Rémi
    346 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01014720134.75
    347 rdf:type schema:Person
    348 sg:person.01044410053.08 schema:affiliation https://www.grid.ac/institutes/grid.150338.c
    349 schema:familyName Parvex
    350 schema:givenName Paloma
    351 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01044410053.08
    352 rdf:type schema:Person
    353 sg:person.01047336100.88 schema:affiliation https://www.grid.ac/institutes/grid.42399.35
    354 schema:familyName Llanas
    355 schema:givenName Brigitte
    356 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01047336100.88
    357 rdf:type schema:Person
    358 sg:person.01053773576.24 schema:affiliation https://www.grid.ac/institutes/grid.277151.7
    359 schema:familyName Dantal
    360 schema:givenName Jacques
    361 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01053773576.24
    362 rdf:type schema:Person
    363 sg:person.01070363637.51 schema:affiliation https://www.grid.ac/institutes/grid.414295.f
    364 schema:familyName Kamar
    365 schema:givenName Nassim
    366 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01070363637.51
    367 rdf:type schema:Person
    368 sg:person.01073200660.34 schema:affiliation https://www.grid.ac/institutes/grid.462336.6
    369 schema:familyName Gribouval
    370 schema:givenName Olivier
    371 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01073200660.34
    372 rdf:type schema:Person
    373 sg:person.01073665043.11 schema:affiliation https://www.grid.ac/institutes/grid.42399.35
    374 schema:familyName Delmas
    375 schema:givenName Yahsou
    376 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01073665043.11
    377 rdf:type schema:Person
    378 sg:person.010772063203.63 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
    379 schema:familyName El Karoui
    380 schema:givenName Khalil
    381 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010772063203.63
    382 rdf:type schema:Person
    383 sg:person.01100040717.77 schema:affiliation https://www.grid.ac/institutes/grid.411147.6
    384 schema:familyName Champion
    385 schema:givenName Gérard
    386 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01100040717.77
    387 rdf:type schema:Person
    388 sg:person.01101613436.07 schema:affiliation https://www.grid.ac/institutes/grid.414295.f
    389 schema:familyName Chauveau
    390 schema:givenName Dominique
    391 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01101613436.07
    392 rdf:type schema:Person
    393 sg:person.01104467150.53 schema:affiliation https://www.grid.ac/institutes/grid.412201.4
    394 schema:familyName Fischbach
    395 schema:givenName Michel
    396 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01104467150.53
    397 rdf:type schema:Person
    398 sg:person.01112656133.44 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
    399 schema:familyName Antignac
    400 schema:givenName Corinne
    401 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01112656133.44
    402 rdf:type schema:Person
    403 sg:person.01125060332.86 schema:affiliation https://www.grid.ac/institutes/grid.5399.6
    404 schema:familyName Tsimaratos
    405 schema:givenName Michel
    406 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01125060332.86
    407 rdf:type schema:Person
    408 sg:person.01127760476.26 schema:affiliation https://www.grid.ac/institutes/grid.414153.6
    409 schema:familyName de Pontual
    410 schema:givenName Loic
    411 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01127760476.26
    412 rdf:type schema:Person
    413 sg:person.01133327740.79 schema:affiliation https://www.grid.ac/institutes/grid.139510.f
    414 schema:familyName Pietrement
    415 schema:givenName Christine
    416 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01133327740.79
    417 rdf:type schema:Person
    418 sg:person.01146710017.26 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
    419 schema:familyName Boyer
    420 schema:givenName Olivia
    421 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01146710017.26
    422 rdf:type schema:Person
    423 sg:person.011531205267.66 schema:affiliation https://www.grid.ac/institutes/grid.462336.6
    424 schema:familyName Dorval
    425 schema:givenName Guillaume
    426 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011531205267.66
    427 rdf:type schema:Person
    428 sg:person.01233620033.86 schema:affiliation https://www.grid.ac/institutes/grid.411178.a
    429 schema:familyName Guigonis
    430 schema:givenName Vincent
    431 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01233620033.86
    432 rdf:type schema:Person
    433 sg:person.01246202405.29 schema:affiliation https://www.grid.ac/institutes/grid.413776.0
    434 schema:familyName Ulinski
    435 schema:givenName Tim
    436 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01246202405.29
    437 rdf:type schema:Person
    438 sg:person.01254112321.45 schema:affiliation https://www.grid.ac/institutes/grid.412124.0
    439 schema:familyName Chabchoub
    440 schema:givenName Imen
    441 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01254112321.45
    442 rdf:type schema:Person
    443 sg:person.01262431555.58 schema:affiliation https://www.grid.ac/institutes/grid.411535.7
    444 schema:familyName Sallee
    445 schema:givenName Marion
    446 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01262431555.58
    447 rdf:type schema:Person
    448 sg:person.013034641021.32 schema:affiliation https://www.grid.ac/institutes/grid.413852.9
    449 schema:familyName Noble
    450 schema:givenName Claire Pouteil
    451 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013034641021.32
    452 rdf:type schema:Person
    453 sg:person.01305444570.12 schema:affiliation https://www.grid.ac/institutes/grid.412124.0
    454 schema:familyName Hachicha
    455 schema:givenName Mongia
    456 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01305444570.12
    457 rdf:type schema:Person
    458 sg:person.01306636617.08 schema:affiliation https://www.grid.ac/institutes/grid.412846.d
    459 schema:familyName Mohsin
    460 schema:givenName Nabil
    461 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01306636617.08
    462 rdf:type schema:Person
    463 sg:person.01331313517.99 schema:affiliation https://www.grid.ac/institutes/grid.414295.f
    464 schema:familyName Ribes
    465 schema:givenName David
    466 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01331313517.99
    467 rdf:type schema:Person
    468 sg:person.01334101032.31 schema:affiliation https://www.grid.ac/institutes/grid.462336.6
    469 schema:familyName Tête
    470 schema:givenName Marie-Josèphe
    471 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01334101032.31
    472 rdf:type schema:Person
    473 sg:person.01345603567.82 schema:affiliation https://www.grid.ac/institutes/grid.413235.2
    474 schema:familyName Deschênes
    475 schema:givenName Georges
    476 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01345603567.82
    477 rdf:type schema:Person
    478 sg:person.01354001724.97 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
    479 schema:familyName Hummel
    480 schema:givenName Aurélie
    481 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01354001724.97
    482 rdf:type schema:Person
    483 sg:person.016042200534.41 schema:affiliation https://www.grid.ac/institutes/grid.452439.d
    484 schema:familyName Dahan
    485 schema:givenName Karin
    486 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016042200534.41
    487 rdf:type schema:Person
    488 sg:person.016204461537.13 schema:affiliation https://www.grid.ac/institutes/grid.277151.7
    489 schema:familyName Hourmant
    490 schema:givenName Maryvonne
    491 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016204461537.13
    492 rdf:type schema:Person
    493 sg:person.0630037751.14 schema:affiliation https://www.grid.ac/institutes/grid.413235.2
    494 schema:familyName Baudouin
    495 schema:givenName Véronique
    496 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0630037751.14
    497 rdf:type schema:Person
    498 sg:person.0634031005.32 schema:affiliation https://www.grid.ac/institutes/grid.411167.4
    499 schema:familyName Benoit
    500 schema:givenName Stéphane
    501 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0634031005.32
    502 rdf:type schema:Person
    503 sg:person.0642367723.58 schema:affiliation https://www.grid.ac/institutes/grid.42399.35
    504 schema:familyName Lacombe
    505 schema:givenName Didier
    506 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0642367723.58
    507 rdf:type schema:Person
    508 sg:person.0647641401.62 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
    509 schema:familyName Grunfeld
    510 schema:givenName Jean-Pierre
    511 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0647641401.62
    512 rdf:type schema:Person
    513 sg:person.0650367411.09 schema:affiliation https://www.grid.ac/institutes/grid.7429.8
    514 schema:familyName Ronco
    515 schema:givenName Pierre
    516 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0650367411.09
    517 rdf:type schema:Person
    518 sg:person.0705275552.29 schema:affiliation https://www.grid.ac/institutes/grid.411167.4
    519 schema:familyName Nivet
    520 schema:givenName Hubert
    521 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0705275552.29
    522 rdf:type schema:Person
    523 sg:person.0726467362.80 schema:affiliation https://www.grid.ac/institutes/grid.8515.9
    524 schema:familyName Chehade
    525 schema:givenName Hassib
    526 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0726467362.80
    527 rdf:type schema:Person
    528 sg:pub.10.1007/bf00859622 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014306517
    529 https://doi.org/10.1007/bf00859622
    530 rdf:type schema:CreativeWork
    531 sg:pub.10.1007/bf01958283 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027540931
    532 https://doi.org/10.1007/bf01958283
    533 rdf:type schema:CreativeWork
    534 sg:pub.10.1007/s00467-006-0409-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012480610
    535 https://doi.org/10.1007/s00467-006-0409-7
    536 rdf:type schema:CreativeWork
    537 sg:pub.10.1007/s00467-010-1692-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1037832017
    538 https://doi.org/10.1007/s00467-010-1692-x
    539 rdf:type schema:CreativeWork
    540 sg:pub.10.1007/s00467-012-2365-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048990119
    541 https://doi.org/10.1007/s00467-012-2365-8
    542 rdf:type schema:CreativeWork
    543 sg:pub.10.1007/s00467-014-2860-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007226870
    544 https://doi.org/10.1007/s00467-014-2860-1
    545 rdf:type schema:CreativeWork
    546 sg:pub.10.1007/s00467-015-3082-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1025202300
    547 https://doi.org/10.1007/s00467-015-3082-x
    548 rdf:type schema:CreativeWork
    549 sg:pub.10.1007/s00467-016-3456-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018896214
    550 https://doi.org/10.1007/s00467-016-3456-8
    551 rdf:type schema:CreativeWork
    552 sg:pub.10.1007/s00467-016-3509-z schema:sameAs https://app.dimensions.ai/details/publication/pub.1046874993
    553 https://doi.org/10.1007/s00467-016-3509-z
    554 rdf:type schema:CreativeWork
    555 sg:pub.10.1007/s004670000549 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039176417
    556 https://doi.org/10.1007/s004670000549
    557 rdf:type schema:CreativeWork
    558 sg:pub.10.1007/s004670050478 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022433707
    559 https://doi.org/10.1007/s004670050478
    560 rdf:type schema:CreativeWork
    561 sg:pub.10.1007/s10157-008-0117-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031288712
    562 https://doi.org/10.1007/s10157-008-0117-7
    563 rdf:type schema:CreativeWork
    564 sg:pub.10.1007/s10157-016-1237-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027495727
    565 https://doi.org/10.1007/s10157-016-1237-0
    566 rdf:type schema:CreativeWork
    567 sg:pub.10.1038/ki.1991.232 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050553313
    568 https://doi.org/10.1038/ki.1991.232
    569 rdf:type schema:CreativeWork
    570 sg:pub.10.1038/kisup.2012.27 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024851361
    571 https://doi.org/10.1038/kisup.2012.27
    572 rdf:type schema:CreativeWork
    573 sg:pub.10.1038/nature15393 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021812064
    574 https://doi.org/10.1038/nature15393
    575 rdf:type schema:CreativeWork
    576 sg:pub.10.1038/nature19057 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022281897
    577 https://doi.org/10.1038/nature19057
    578 rdf:type schema:CreativeWork
    579 sg:pub.10.1038/nmeth.1701 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049894869
    580 https://doi.org/10.1038/nmeth.1701
    581 rdf:type schema:CreativeWork
    582 sg:pub.10.1111/j.1523-1755.2004.00775.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1034192510
    583 https://doi.org/10.1111/j.1523-1755.2004.00775.x
    584 rdf:type schema:CreativeWork
    585 sg:pub.10.1186/1471-2369-14-65 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045277817
    586 https://doi.org/10.1186/1471-2369-14-65
    587 rdf:type schema:CreativeWork
    588 sg:pub.10.1203/01.pdr.0000250041.19306.3d schema:sameAs https://app.dimensions.ai/details/publication/pub.1020743174
    589 https://doi.org/10.1203/01.pdr.0000250041.19306.3d
    590 rdf:type schema:CreativeWork
    591 https://app.dimensions.ai/details/publication/pub.1074750918 schema:CreativeWork
    592 https://app.dimensions.ai/details/publication/pub.1078647421 schema:CreativeWork
    593 https://app.dimensions.ai/details/publication/pub.1080190058 schema:CreativeWork
    594 https://app.dimensions.ai/details/publication/pub.1080590618 schema:CreativeWork
    595 https://app.dimensions.ai/details/publication/pub.1081694994 schema:CreativeWork
    596 https://doi.org/10.1001/archpedi.1971.02100160098015 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029052502
    597 rdf:type schema:CreativeWork
    598 https://doi.org/10.1002/humu.22844 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020371094
    599 rdf:type schema:CreativeWork
    600 https://doi.org/10.1016/0002-9343(74)90748-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019962195
    601 rdf:type schema:CreativeWork
    602 https://doi.org/10.1016/j.ajhg.2014.04.010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025373836
    603 rdf:type schema:CreativeWork
    604 https://doi.org/10.1016/s0022-3476(81)80760-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022626465
    605 rdf:type schema:CreativeWork
    606 https://doi.org/10.1016/s0140-6736(72)91734-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004081040
    607 rdf:type schema:CreativeWork
    608 https://doi.org/10.1016/s0140-6736(74)91880-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017067259
    609 rdf:type schema:CreativeWork
    610 https://doi.org/10.1038/sj.emboj.7601014 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005037572
    611 rdf:type schema:CreativeWork
    612 https://doi.org/10.1056/nejm199401063300102 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017692411
    613 rdf:type schema:CreativeWork
    614 https://doi.org/10.1056/nejm199604043341402 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018659571
    615 rdf:type schema:CreativeWork
    616 https://doi.org/10.1056/nejm200102013440517 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009139407
    617 rdf:type schema:CreativeWork
    618 https://doi.org/10.1074/jbc.m702117200 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003705350
    619 rdf:type schema:CreativeWork
    620 https://doi.org/10.1093/hmg/ddp328 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008796718
    621 rdf:type schema:CreativeWork
    622 https://doi.org/10.1093/nar/29.1.308 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005817660
    623 rdf:type schema:CreativeWork
    624 https://doi.org/10.1093/ndt/gfv355 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059933204
    625 rdf:type schema:CreativeWork
    626 https://doi.org/10.1097/01.asn.0000070070.03811.02 schema:sameAs https://app.dimensions.ai/details/publication/pub.1060319177
    627 rdf:type schema:CreativeWork
    628 https://doi.org/10.1542/peds.2008-1559 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000683517
    629 rdf:type schema:CreativeWork
    630 https://doi.org/10.1681/asn.2007080842 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046597108
    631 rdf:type schema:CreativeWork
    632 https://doi.org/10.1681/asn.2013080852 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013403032
    633 rdf:type schema:CreativeWork
    634 https://doi.org/10.1681/asn.2014030247 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049522560
    635 rdf:type schema:CreativeWork
    636 https://doi.org/10.2215/cjn.03910808 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023696450
    637 rdf:type schema:CreativeWork
    638 https://doi.org/10.6061/clinics/2013(05)08 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033203404
    639 rdf:type schema:CreativeWork
    640 https://www.grid.ac/institutes/grid.139510.f schema:alternateName Centre Hospitalier Universitaire De Reims
    641 schema:name Departement of Pediatrics, Nephrology Unit, University Hospital of Reims, Reims, France
    642 Faculty of Medicine, Laboratory of Biochemistry and Molecular Biology, UMR, CNRS/URCA n°7369, University of Champagne-Ardenne, Reims, France
    643 rdf:type schema:Organization
    644 https://www.grid.ac/institutes/grid.150338.c schema:alternateName University Hospital of Geneva
    645 schema:name Department of Pediatrics, Division of Pediatric Nephrology, Geneva University Hospital, Geneva, Switzerland
    646 rdf:type schema:Organization
    647 https://www.grid.ac/institutes/grid.277151.7 schema:alternateName Centre Hospitalier Universitaire de Nantes
    648 schema:name Nephrology and Immunology Department, University Hospital of Nantes, Nantes, France
    649 rdf:type schema:Organization
    650 https://www.grid.ac/institutes/grid.411147.6 schema:alternateName Centre Hospitalier Universitaire de Angers
    651 schema:name Department of Pediatrics, University Hospital of Angers, Angers, France
    652 rdf:type schema:Organization
    653 https://www.grid.ac/institutes/grid.411167.4 schema:alternateName Centre Hospitalier Universitaire de Tours
    654 schema:name Department of Nephrology, University Hospital of Tours, Tours, France
    655 rdf:type schema:Organization
    656 https://www.grid.ac/institutes/grid.411178.a schema:alternateName Centre Hospitalier Universitaire de Limoges
    657 schema:name Department of Pediatrics, University Hospital of Limoges, Limoges, France
    658 rdf:type schema:Organization
    659 https://www.grid.ac/institutes/grid.411535.7 schema:alternateName Hôpital de la Conception
    660 schema:name Department of Nephrology and Kidney Transplantation, The Conception Hospital, Marseille, France
    661 rdf:type schema:Organization
    662 https://www.grid.ac/institutes/grid.411838.7 schema:alternateName University of Monastir
    663 schema:name Department of Pediatrics, Monastir University, Monastir, Tunisia
    664 rdf:type schema:Organization
    665 https://www.grid.ac/institutes/grid.412124.0 schema:alternateName University of Sfax
    666 schema:name Department of Pediatrics, Sfax University, Sfax, Tunisia
    667 rdf:type schema:Organization
    668 https://www.grid.ac/institutes/grid.412134.1 schema:alternateName Necker-Enfants Malades Hospital
    669 schema:name Centre de Référence Syndrome Néphrotique Idiopathique de l’enfant et de l’adulte, Paris, France
    670 Department of Genetics, Assistance Publique-Hôpitaux de Paris, Necker-Enfants malades Hospital, Paris, France
    671 Department of Nephrology, Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades Hospital, Paris, France
    672 Department of Pediatric Nephrology, Centre de référence du syndrome néphrotique idiopathique de l’enfant et l’adulte, Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades Hospital, Paris, France
    673 INSERM UMR1163, Laboratory of Hereditary Kidney Diseases, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France
    674 Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France
    675 rdf:type schema:Organization
    676 https://www.grid.ac/institutes/grid.412201.4 schema:alternateName Hôpital d'Hautepierre
    677 schema:name Department of Nephrology, University Hospital Hautepierre, Strasbourg, France
    678 Nephrology Dialysis Transplantation Children’s Unit, University Hospital Hautepierre, Strasbourg, France
    679 rdf:type schema:Organization
    680 https://www.grid.ac/institutes/grid.412846.d schema:alternateName Sultan Qaboos University
    681 schema:name College of Medicine, Sultan Qaboos University, Muscat, Oman
    682 rdf:type schema:Organization
    683 https://www.grid.ac/institutes/grid.413235.2 schema:alternateName Hôpital Robert Debré
    684 schema:name Department of Pediatric Nephrology, Assistance Publique-Hôpitaux de Paris, Robert Debré Hospital, Paris, France
    685 rdf:type schema:Organization
    686 https://www.grid.ac/institutes/grid.413776.0 schema:alternateName Hôpital Armand Trousseau
    687 schema:name Department of Pediatric Nephrology, Assistance Publique-Hôpitaux de Paris, Armand Trousseau Hospital, Paris, France
    688 rdf:type schema:Organization
    689 https://www.grid.ac/institutes/grid.413852.9 schema:alternateName Hospices Civils de Lyon
    690 schema:name Department of Nephrology and Transplantation, University Hospital of Lyon, Lyon, France
    691 rdf:type schema:Organization
    692 https://www.grid.ac/institutes/grid.414153.6 schema:alternateName Hôpital Jean-Verdier
    693 schema:name Department of Pediatrics, Assistance Publique-Hôpitaux de Paris, Jean Verdier Hospital, Bondy, France
    694 rdf:type schema:Organization
    695 https://www.grid.ac/institutes/grid.414295.f schema:alternateName Hôpital Rangueil
    696 schema:name Department of Nephrology and Organ Transplantation, University Hospital Rangueil, Toulouse, France
    697 rdf:type schema:Organization
    698 https://www.grid.ac/institutes/grid.42399.35 schema:alternateName Centre Hospitalier Universitaire de Bordeaux
    699 schema:name Department of Genetics, University Hospital of Bordeaux, Bordeaux, France
    700 Department of Nephrology, University Hospital of Bordeaux, Bordeaux, France
    701 Department of Pediatrics, University Hospital of Bordeaux, Bordeaux, France
    702 rdf:type schema:Organization
    703 https://www.grid.ac/institutes/grid.452439.d schema:alternateName Institute of Pathology and Genetics
    704 schema:name Department of Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium
    705 rdf:type schema:Organization
    706 https://www.grid.ac/institutes/grid.462336.6 schema:alternateName Imagine Institute for Genetic Diseases
    707 schema:name INSERM UMR1163, Laboratory of Hereditary Kidney Diseases, Imagine Institute, 24 Boulevard du Montparnasse, 75015, Paris, France
    708 Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France
    709 rdf:type schema:Organization
    710 https://www.grid.ac/institutes/grid.5399.6 schema:alternateName Aix-Marseille University
    711 schema:name Department of Multidisciplinary Pediatrics Timone, Assistance Publique Hôpitaux de Marseille, Aix-Marseille University, Marseille, France
    712 rdf:type schema:Organization
    713 https://www.grid.ac/institutes/grid.7429.8 schema:alternateName French Institute of Health and Medical Research
    714 schema:name Department of Nephrology and Dialysis, Assistance Publique-Hôpitaux de Paris, Tenon Hospital, Paris, France
    715 INSERM, UMR_S 1155, 75020, Paris, France
    716 Sorbonne University, UPMC University Paris 06, Paris, France
    717 rdf:type schema:Organization
    718 https://www.grid.ac/institutes/grid.8515.9 schema:alternateName University Hospital of Lausanne
    719 schema:name Department of Pediatrics, Division of Pediatric Nephrology, Lausanne University Hospital, Lausanne, Switzerland
    720 rdf:type schema:Organization
     




    Preview window. Press ESC to close (or click here)


    ...