KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2012-04

AUTHORS

Hélène Louis-Dit-Picard, Julien Barc, Daniel Trujillano, Stéphanie Miserey-Lenkei, Nabila Bouatia-Naji, Olena Pylypenko, Geneviève Beaurain, Amélie Bonnefond, Olivier Sand, Christophe Simian, Emmanuelle Vidal-Petiot, Christelle Soukaseum, Chantal Mandet, Françoise Broux, Olivier Chabre, Michel Delahousse, Vincent Esnault, Béatrice Fiquet, Pascal Houillier, Corinne Isnard Bagnis, Jens Koenig, Martin Konrad, Paul Landais, Chebel Mourani, Patrick Niaudet, Vincent Probst, Christel Thauvin, Robert J Unwin, Steven D Soroka, Georg Ehret, Stephan Ossowski, Mark Caulfield, International Consortium for Blood Pressure, Patrick Bruneval, Xavier Estivill, Philippe Froguel, Juliette Hadchouel, Jean-Jacques Schott, Xavier Jeunemaitre

ABSTRACT

Familial hyperkalemic hypertension (FHHt) is a Mendelian form of arterial hypertension that is partially explained by mutations in WNK1 and WNK4 that lead to increased activity of the Na(+)-Cl(-) cotransporter (NCC) in the distal nephron. Using combined linkage analysis and whole-exome sequencing in two families, we identified KLHL3 as a third gene responsible for FHHt. Direct sequencing of 43 other affected individuals revealed 11 additional missense mutations that were associated with heterogeneous phenotypes and diverse modes of inheritance. Polymorphisms at KLHL3 were not associated with blood pressure. The KLHL3 protein belongs to the BTB-BACK-kelch family of actin-binding proteins that recruit substrates for Cullin3-based ubiquitin ligase complexes. KLHL3 is coexpressed with NCC and downregulates NCC expression at the cell surface. Our study establishes a role for KLHL3 as a new member of the complex signaling pathway regulating ion homeostasis in the distal nephron and indirectly blood pressure. More... »

PAGES

456

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.2218

DOI

http://dx.doi.org/10.1038/ng.2218

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1050920050

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/22406640


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": "Aged", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Aged, 80 and over", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Amino Acid Sequence", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Base Sequence", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Blood Pressure", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Carrier Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Ion Transport", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Kidney", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Middle Aged", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Molecular Sequence Data", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Nephrons", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polymorphism, Single Nucleotide", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pseudohypoaldosteronism", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sequence Analysis, DNA", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Signal Transduction", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sodium Chloride Symporters", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Young Adult", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Europ\u00e9en Georges-Pompidou", 
          "id": "https://www.grid.ac/institutes/grid.414093.b", 
          "name": [
            "Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), Unit\u00e9 Mixte de Recherche Scientifique (UMRS) 970, Paris\u2013Centre de Recherche Cardiovasculaire (PARCC), Paris, France.", 
            "Faculty of Medicine, Universit\u00e9 Paris Descartes, P\u00f4le de Recherche et d'Enseignement Sup\u00e9rieur (PRES) Sorbonne Paris Cit\u00e9, Paris, France.", 
            "D\u00e9partement de G\u00e9n\u00e9tique, Assistance Publique\u2013H\u00f4pitaux de Paris (AP-HP), H\u00f4pital Europ\u00e9en Georges Pompidou (HEGP), Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Louis-Dit-Picard", 
        "givenName": "H\u00e9l\u00e8ne", 
        "id": "sg:person.01123101421.84", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01123101421.84"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "French National Centre for Scientific Research", 
          "id": "https://www.grid.ac/institutes/grid.4444.0", 
          "name": [
            "INSERM, Unit\u00e9 Mixte de Recherche (UMR) 1087, Institut du Thorax, Universit\u00e9 de Nantes, Nantes, France.", 
            "Faculty of Medicine, Universit\u00e9 de Nantes, Nantes, France.", 
            "Centre National de la Recherche Scientifique (CNRS), \u00c9quipe de Recherche Labellis\u00e9e (ERL) 3147, Nantes, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Barc", 
        "givenName": "Julien", 
        "id": "sg:person.01231531553.77", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01231531553.77"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Epidemiolog\u00eda y Salud P\u00fablica", 
          "id": "https://www.grid.ac/institutes/grid.466571.7", 
          "name": [
            "Genes and Disease Program, Center for Genomic Regulation (CGR) and Pompeu Fabra University, Barcelona, Spain.", 
            "Public Health and Epidemiology Network Biomedical Research Center (CIBERESP), Barcelona, Spain."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Trujillano", 
        "givenName": "Daniel", 
        "id": "sg:person.01237330021.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237330021.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Subcellular Structure and Cellular Dynamics", 
          "id": "https://www.grid.ac/institutes/grid.462332.2", 
          "name": [
            "CNRS, UMR 144, Institut Curie, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Miserey-Lenkei", 
        "givenName": "St\u00e9phanie", 
        "id": "sg:person.01305443221.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01305443221.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Paris Descartes University", 
          "id": "https://www.grid.ac/institutes/grid.10992.33", 
          "name": [
            "Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), Unit\u00e9 Mixte de Recherche Scientifique (UMRS) 970, Paris\u2013Centre de Recherche Cardiovasculaire (PARCC), Paris, France.", 
            "Faculty of Medicine, Universit\u00e9 Paris Descartes, P\u00f4le de Recherche et d'Enseignement Sup\u00e9rieur (PRES) Sorbonne Paris Cit\u00e9, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bouatia-Naji", 
        "givenName": "Nabila", 
        "id": "sg:person.0626061227.06", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0626061227.06"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Subcellular Structure and Cellular Dynamics", 
          "id": "https://www.grid.ac/institutes/grid.462332.2", 
          "name": [
            "CNRS, UMR 144, Institut Curie, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pylypenko", 
        "givenName": "Olena", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Europ\u00e9en Georges-Pompidou", 
          "id": "https://www.grid.ac/institutes/grid.414093.b", 
          "name": [
            "Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), Unit\u00e9 Mixte de Recherche Scientifique (UMRS) 970, Paris\u2013Centre de Recherche Cardiovasculaire (PARCC), Paris, France.", 
            "Faculty of Medicine, Universit\u00e9 Paris Descartes, P\u00f4le de Recherche et d'Enseignement Sup\u00e9rieur (PRES) Sorbonne Paris Cit\u00e9, Paris, France.", 
            "D\u00e9partement de G\u00e9n\u00e9tique, Assistance Publique\u2013H\u00f4pitaux de Paris (AP-HP), H\u00f4pital Europ\u00e9en Georges Pompidou (HEGP), Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Beaurain", 
        "givenName": "Genevi\u00e8ve", 
        "id": "sg:person.01153143704.67", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01153143704.67"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "French National Centre for Scientific Research", 
          "id": "https://www.grid.ac/institutes/grid.4444.0", 
          "name": [
            "CNRS, UMR 8199, Lille Pasteur Institute, Lille, France.", 
            "Faculty of Medicine, Lille Nord de France University, Lille, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bonnefond", 
        "givenName": "Am\u00e9lie", 
        "id": "sg:person.0630161707.73", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0630161707.73"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "French National Centre for Scientific Research", 
          "id": "https://www.grid.ac/institutes/grid.4444.0", 
          "name": [
            "CNRS, UMR 8199, Lille Pasteur Institute, Lille, France.", 
            "Faculty of Medicine, Lille Nord de France University, Lille, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sand", 
        "givenName": "Olivier", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Europ\u00e9en Georges-Pompidou", 
          "id": "https://www.grid.ac/institutes/grid.414093.b", 
          "name": [
            "D\u00e9partement de G\u00e9n\u00e9tique, Assistance Publique\u2013H\u00f4pitaux de Paris (AP-HP), H\u00f4pital Europ\u00e9en Georges Pompidou (HEGP), Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Simian", 
        "givenName": "Christophe", 
        "id": "sg:person.01202265306.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01202265306.12"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Paris Descartes University", 
          "id": "https://www.grid.ac/institutes/grid.10992.33", 
          "name": [
            "Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), Unit\u00e9 Mixte de Recherche Scientifique (UMRS) 970, Paris\u2013Centre de Recherche Cardiovasculaire (PARCC), Paris, France.", 
            "Faculty of Medicine, Universit\u00e9 Paris Descartes, P\u00f4le de Recherche et d'Enseignement Sup\u00e9rieur (PRES) Sorbonne Paris Cit\u00e9, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Vidal-Petiot", 
        "givenName": "Emmanuelle", 
        "id": "sg:person.01364772247.08", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01364772247.08"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Paris Descartes University", 
          "id": "https://www.grid.ac/institutes/grid.10992.33", 
          "name": [
            "Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), Unit\u00e9 Mixte de Recherche Scientifique (UMRS) 970, Paris\u2013Centre de Recherche Cardiovasculaire (PARCC), Paris, France.", 
            "Faculty of Medicine, Universit\u00e9 Paris Descartes, P\u00f4le de Recherche et d'Enseignement Sup\u00e9rieur (PRES) Sorbonne Paris Cit\u00e9, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Soukaseum", 
        "givenName": "Christelle", 
        "id": "sg:person.01175055721.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01175055721.00"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Paris Descartes University", 
          "id": "https://www.grid.ac/institutes/grid.10992.33", 
          "name": [
            "Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), Unit\u00e9 Mixte de Recherche Scientifique (UMRS) 970, Paris\u2013Centre de Recherche Cardiovasculaire (PARCC), Paris, France.", 
            "Faculty of Medicine, Universit\u00e9 Paris Descartes, P\u00f4le de Recherche et d'Enseignement Sup\u00e9rieur (PRES) Sorbonne Paris Cit\u00e9, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mandet", 
        "givenName": "Chantal", 
        "id": "sg:person.056055065.61", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.056055065.61"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Rouen", 
          "id": "https://www.grid.ac/institutes/grid.10400.35", 
          "name": [
            "D\u00e9partement de P\u00e9diatrie M\u00e9dicale, Centre Hospitalier Universitaire (CHU) Charles Nicolle, Universit\u00e9 de Rouen, Rouen, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Broux", 
        "givenName": "Fran\u00e7oise", 
        "id": "sg:person.0746134044.63", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746134044.63"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "CHU de Grenoble, Universit\u00e9 Joseph Fourier, Grenoble, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Chabre", 
        "givenName": "Olivier", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Foch", 
          "id": "https://www.grid.ac/institutes/grid.414106.6", 
          "name": [
            "D\u00e9partement de Nephrologie, Hopital Foch, Suresnes, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Delahousse", 
        "givenName": "Michel", 
        "id": "sg:person.01314751203.80", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01314751203.80"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Nice Sophia Antipolis University", 
          "id": "https://www.grid.ac/institutes/grid.10737.32", 
          "name": [
            "Service de N\u00e9phrologie, CHU de Nice, H\u00f4pital Pasteur, Nice, France.", 
            "Faculty of Medicine, Universit\u00e9 de Nice Sophia Antipolis, Nice, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Esnault", 
        "givenName": "Vincent", 
        "id": "sg:person.01001727605.18", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01001727605.18"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Europ\u00e9en Georges-Pompidou", 
          "id": "https://www.grid.ac/institutes/grid.414093.b", 
          "name": [
            "Service d'Hypertension et M\u00e9decine Vasculaire, AP-HP, HEGP, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fiquet", 
        "givenName": "B\u00e9atrice", 
        "id": "sg:person.01127234251.70", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01127234251.70"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "French Institute of Health and Medical Research", 
          "id": "https://www.grid.ac/institutes/grid.7429.8", 
          "name": [
            "Faculty of Medicine, Universit\u00e9 Paris Descartes, P\u00f4le de Recherche et d'Enseignement Sup\u00e9rieur (PRES) Sorbonne Paris Cit\u00e9, Paris, France.", 
            "Service d'Explorations Fonctionnelles R\u00e9nales, AP-HP, HEGP, Paris, France.", 
            "INSERM, UMR S872\u2013Institut des Cordeliers, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Houillier", 
        "givenName": "Pascal", 
        "id": "sg:person.0606417301.85", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0606417301.85"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Piti\u00e9-Salp\u00eatri\u00e8re Hospital", 
          "id": "https://www.grid.ac/institutes/grid.411439.a", 
          "name": [
            "Nephrology Department, AP-HP, H\u00f4pital Piti\u00e9-Salp\u00e9tri\u00e8re, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bagnis", 
        "givenName": "Corinne Isnard", 
        "id": "sg:person.01242635311.30", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01242635311.30"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital M\u00fcnster", 
          "id": "https://www.grid.ac/institutes/grid.16149.3b", 
          "name": [
            "Department of General Pediatrics, University Children's Hospital M\u00fcnster, M\u00fcnster, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Koenig", 
        "givenName": "Jens", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Hospital M\u00fcnster", 
          "id": "https://www.grid.ac/institutes/grid.16149.3b", 
          "name": [
            "Department of General Pediatrics, University Children's Hospital M\u00fcnster, M\u00fcnster, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Konrad", 
        "givenName": "Martin", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "Faculty of Medicine, Universit\u00e9 Paris Descartes, P\u00f4le de Recherche et d'Enseignement Sup\u00e9rieur (PRES) Sorbonne Paris Cit\u00e9, Paris, France.", 
            "Services de N\u00e9phrologie et N\u00e9phrologie P\u00e9diatrique, AP-HP, H\u00f4pital Necker, Paris, France.", 
            "INSERM, U507, H\u00f4pital Necker, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Landais", 
        "givenName": "Paul", 
        "id": "sg:person.01336161505.85", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01336161505.85"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4tel-Dieu de France", 
          "id": "https://www.grid.ac/institutes/grid.413559.f", 
          "name": [
            "Departement de Pediatrie, Hotel Dieu de France, Beirut, Lebanon."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mourani", 
        "givenName": "Chebel", 
        "id": "sg:person.01315145421.19", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01315145421.19"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "Faculty of Medicine, Universit\u00e9 Paris Descartes, P\u00f4le de Recherche et d'Enseignement Sup\u00e9rieur (PRES) Sorbonne Paris Cit\u00e9, Paris, France.", 
            "Services de N\u00e9phrologie et N\u00e9phrologie P\u00e9diatrique, AP-HP, H\u00f4pital Necker, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Niaudet", 
        "givenName": "Patrick", 
        "id": "sg:person.01313011163.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313011163.25"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Universitaire de Nantes", 
          "id": "https://www.grid.ac/institutes/grid.277151.7", 
          "name": [
            "INSERM, Unit\u00e9 Mixte de Recherche (UMR) 1087, Institut du Thorax, Universit\u00e9 de Nantes, Nantes, France.", 
            "Faculty of Medicine, Universit\u00e9 de Nantes, Nantes, France.", 
            "Centre National de la Recherche Scientifique (CNRS), \u00c9quipe de Recherche Labellis\u00e9e (ERL) 3147, Nantes, France.", 
            "Service de Cardiologie Nantes, CHU de Nantes, Institut du Thorax, Nantes, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Probst", 
        "givenName": "Vincent", 
        "id": "sg:person.01350716445.92", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01350716445.92"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Burgundy", 
          "id": "https://www.grid.ac/institutes/grid.5613.1", 
          "name": [
            "CHU de Dijon, Centre de G\u00e9n\u00e9tique, Dijon, France.", 
            "Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Bourgogne, Dijon, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Thauvin", 
        "givenName": "Christel", 
        "id": "sg:person.01037515214.11", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01037515214.11"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University College London", 
          "id": "https://www.grid.ac/institutes/grid.83440.3b", 
          "name": [
            "Centre for Nephrology, University College London Medical School, Royal Free Campus and Hospital, London, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Unwin", 
        "givenName": "Robert J", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Dalhousie University", 
          "id": "https://www.grid.ac/institutes/grid.55602.34", 
          "name": [
            "Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Soroka", 
        "givenName": "Steven D", 
        "id": "sg:person.0663676174.53", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0663676174.53"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Geneva", 
          "id": "https://www.grid.ac/institutes/grid.8591.5", 
          "name": [
            "McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.", 
            "Cardiology, Department of Specialties of Internal Medicine, Geneva University, Geneva, Switzerland."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ehret", 
        "givenName": "Georg", 
        "id": "sg:person.01351041437.40", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01351041437.40"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Pompeu Fabra University", 
          "id": "https://www.grid.ac/institutes/grid.5612.0", 
          "name": [
            "Genomic and Epigenomic Variation in Disease Group, CGR and Pompeu Fabra University, Barcelona, Spain."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ossowski", 
        "givenName": "Stephan", 
        "id": "sg:person.01240417541.45", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01240417541.45"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Queen Mary University of London", 
          "id": "https://www.grid.ac/institutes/grid.4868.2", 
          "name": [
            "Clinical Pharmacology and The Genome Centre, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Caulfield", 
        "givenName": "Mark", 
        "id": "sg:person.01115613606.51", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01115613606.51"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Pressure", 
        "givenName": "International Consortium for Blood", 
        "id": "sg:person.010222144267.59", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010222144267.59"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Europ\u00e9en Georges-Pompidou", 
          "id": "https://www.grid.ac/institutes/grid.414093.b", 
          "name": [
            "Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), Unit\u00e9 Mixte de Recherche Scientifique (UMRS) 970, Paris\u2013Centre de Recherche Cardiovasculaire (PARCC), Paris, France.", 
            "Faculty of Medicine, Universit\u00e9 Paris Descartes, P\u00f4le de Recherche et d'Enseignement Sup\u00e9rieur (PRES) Sorbonne Paris Cit\u00e9, Paris, France.", 
            "Service d'Anatomo Pathologie, AP-HP, HEGP, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bruneval", 
        "givenName": "Patrick", 
        "id": "sg:person.01274305514.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01274305514.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Pompeu Fabra University", 
          "id": "https://www.grid.ac/institutes/grid.5612.0", 
          "name": [
            "Genes and Disease Program, Center for Genomic Regulation (CGR) and Pompeu Fabra University, Barcelona, Spain.", 
            "Public Health and Epidemiology Network Biomedical Research Center (CIBERESP), Barcelona, Spain.", 
            "Department of Health and Life Sciences, Pompeu Fabra University, Barcelona, Spain."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Estivill", 
        "givenName": "Xavier", 
        "id": "sg:person.0675214555.67", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0675214555.67"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Imperial College London", 
          "id": "https://www.grid.ac/institutes/grid.7445.2", 
          "name": [
            "CNRS, UMR 8199, Lille Pasteur Institute, Lille, France.", 
            "Faculty of Medicine, Lille Nord de France University, Lille, France.", 
            "Department of Genomics of Common Disease, School of Public Health, Imperial College London, Hammersmith Hospital, London, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Froguel", 
        "givenName": "Philippe", 
        "id": "sg:person.015652454457.90", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015652454457.90"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Paris Descartes University", 
          "id": "https://www.grid.ac/institutes/grid.10992.33", 
          "name": [
            "Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), Unit\u00e9 Mixte de Recherche Scientifique (UMRS) 970, Paris\u2013Centre de Recherche Cardiovasculaire (PARCC), Paris, France.", 
            "Faculty of Medicine, Universit\u00e9 Paris Descartes, P\u00f4le de Recherche et d'Enseignement Sup\u00e9rieur (PRES) Sorbonne Paris Cit\u00e9, Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hadchouel", 
        "givenName": "Juliette", 
        "id": "sg:person.0606162142.42", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0606162142.42"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Universitaire de Nantes", 
          "id": "https://www.grid.ac/institutes/grid.277151.7", 
          "name": [
            "INSERM, Unit\u00e9 Mixte de Recherche (UMR) 1087, Institut du Thorax, Universit\u00e9 de Nantes, Nantes, France.", 
            "Faculty of Medicine, Universit\u00e9 de Nantes, Nantes, France.", 
            "Centre National de la Recherche Scientifique (CNRS), \u00c9quipe de Recherche Labellis\u00e9e (ERL) 3147, Nantes, France.", 
            "Genes and Disease Program, Center for Genomic Regulation (CGR) and Pompeu Fabra University, Barcelona, Spain.", 
            "Service de Cardiologie Nantes, CHU de Nantes, Institut du Thorax, Nantes, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Schott", 
        "givenName": "Jean-Jacques", 
        "id": "sg:person.01357245131.84", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01357245131.84"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Europ\u00e9en Georges-Pompidou", 
          "id": "https://www.grid.ac/institutes/grid.414093.b", 
          "name": [
            "Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), Unit\u00e9 Mixte de Recherche Scientifique (UMRS) 970, Paris\u2013Centre de Recherche Cardiovasculaire (PARCC), Paris, France.", 
            "Faculty of Medicine, Universit\u00e9 Paris Descartes, P\u00f4le de Recherche et d'Enseignement Sup\u00e9rieur (PRES) Sorbonne Paris Cit\u00e9, Paris, France.", 
            "D\u00e9partement de G\u00e9n\u00e9tique, Assistance Publique\u2013H\u00f4pitaux de Paris (AP-HP), H\u00f4pital Europ\u00e9en Georges Pompidou (HEGP), Paris, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Jeunemaitre", 
        "givenName": "Xavier", 
        "id": "sg:person.01301545572.88", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01301545572.88"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/nature10405", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000059117", 
          "https://doi.org/10.1038/nature10405"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0962-8924(99)01673-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002021768"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gkg509", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002198958"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nmeth0410-248", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007489634", 
          "https://doi.org/10.1038/nmeth0410-248"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nmeth0410-248", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007489634", 
          "https://doi.org/10.1038/nmeth0410-248"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1600-0854.2006.00395.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010123808"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.biocel.2006.09.003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010516970"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1471-2156-6-s1-s13", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013957099", 
          "https://doi.org/10.1186/1471-2156-6-s1-s13"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1681/asn.2005030314", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019060609"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1681/asn.2005030314", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019060609"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.m111.245126", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020562878"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/prot.340230306", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020617829"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/prot.340230306", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020617829"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/gkq603", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020792304"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1152/ajprenal.00441.2009", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027865980"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/geno.2000.6181", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028873925"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0092-8674(01)00241-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029883534"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1681/asn.2011020132", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031727968"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1681/asn.2011020132", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1031727968"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1371/journal.pone.0013630", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033698634"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1242/jcs.025312", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036315246"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cmet.2007.03.009", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036428050"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1152/physiolgenomics.00093.2010", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037415250"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1877", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037827426", 
          "https://doi.org/10.1038/ng1877"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1877", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037827426", 
          "https://doi.org/10.1038/ng1877"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature08250", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038593056", 
          "https://doi.org/10.1038/nature08250"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature08250", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038593056", 
          "https://doi.org/10.1038/nature08250"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature10814", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039812741", 
          "https://doi.org/10.1038/nature10814"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng786", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041343500", 
          "https://doi.org/10.1038/ng786"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng786", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041343500", 
          "https://doi.org/10.1038/ng786"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/bioinformatics/btp528", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041879321"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1083/jcb.200110063", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043357865"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1038/sj.emboj.7600186", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043448185"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1091/mbc.e03-12-0878", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044971047"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00004872-199408000-00018", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046245585"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00004872-199408000-00018", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046245585"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1091/mbc.10.7.2361", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046408694"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00004872-199400127-00005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047560910"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00004872-199400127-00005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047560910"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1101/gr.3715005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048048079"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ki.1995.432", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048645706", 
          "https://doi.org/10.1038/ki.1995.432"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1152/ajprenal.00401.2009", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048991808"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/bioinformatics/bti009", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050481280"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1152/physrev.00056.2003", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052833324"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1062844", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062445257"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082894758", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1152/physrev.1998.78.4.1109", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1083337135"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2012-04", 
    "datePublishedReg": "2012-04-01", 
    "description": "Familial hyperkalemic hypertension (FHHt) is a Mendelian form of arterial hypertension that is partially explained by mutations in WNK1 and WNK4 that lead to increased activity of the Na(+)-Cl(-) cotransporter (NCC) in the distal nephron. Using combined linkage analysis and whole-exome sequencing in two families, we identified KLHL3 as a third gene responsible for FHHt. Direct sequencing of 43 other affected individuals revealed 11 additional missense mutations that were associated with heterogeneous phenotypes and diverse modes of inheritance. Polymorphisms at KLHL3 were not associated with blood pressure. The KLHL3 protein belongs to the BTB-BACK-kelch family of actin-binding proteins that recruit substrates for Cullin3-based ubiquitin ligase complexes. KLHL3 is coexpressed with NCC and downregulates NCC expression at the cell surface. Our study establishes a role for KLHL3 as a new member of the complex signaling pathway regulating ion homeostasis in the distal nephron and indirectly blood pressure.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/ng.2218", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2754723", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.3786636", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1103138", 
        "issn": [
          "1061-4036", 
          "1546-1718"
        ], 
        "name": "Nature Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "4", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "44"
      }
    ], 
    "name": "KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron", 
    "pagination": "456", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "f29074c7213ce6736c6f4b4a4cb495e2b04b0f4e48f24467790947e2685e5dad"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "22406640"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9216904"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ng.2218"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1050920050"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ng.2218", 
      "https://app.dimensions.ai/details/publication/pub.1050920050"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T23:13", 
    "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/v90/0000000001_0000000264/records_8693_00000436.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/ng.2218"
  }
]
 

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.10.1038/ng.2218'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/ng.2218'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng.2218'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng.2218'


 

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

633 TRIPLES      21 PREDICATES      90 URIs      44 LITERALS      32 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ng.2218 schema:about N018bb84097cf488dba40a61b563615e4
2 N0f35bd1102ed490aa4bd357385f75313
3 N13576c1b6ef148d9b5c17c0cd1a62825
4 N1e5cd2fa233a4d23824bae1001516304
5 N26df16d40de54765bfe75514fab51a75
6 N2ffa7be40fe64136ab728cb7afd29d1c
7 N3371cfbf2ffd4f46953e3383c272c49d
8 N40c105364cc54d3b8c4d1a3fbcfcfc8c
9 N4833a3634cec4fa98537dd252bb70e86
10 N49bafd6ef81a4eb88c69dc7bcf834551
11 N4c1e09a24e644ed9bcaf0fb752f4357e
12 N52e2a547243f48c9893d49e300ce179f
13 N642ce04cfc8448b69138e3863c43d9fa
14 N7dc672976a234a4e85b8772a7056199c
15 N80afc5e6f2274f619f6574a439270436
16 N89e4bed878d842079271d562aec576ab
17 Na3b90e9c6afb4e1f9d1381bb9bdb62e9
18 Na6cf2a452d134d68827737008b91e4c3
19 Nab62152d16504848ac3a6a78ea86fcaf
20 Nd3afe7797e7345e6816d046f3a429275
21 Nd50caac38dfe43b9bd6b09a4a48e63ec
22 Nd6d8ea42c5d5462ebe7b4e36feb837c7
23 Nfd04a171c8dc41579f679b7e4ab7b2c3
24 anzsrc-for:06
25 anzsrc-for:0604
26 schema:author N662473ef931246bcbd2051ddaa72d8de
27 schema:citation sg:pub.10.1038/ki.1995.432
28 sg:pub.10.1038/nature08250
29 sg:pub.10.1038/nature10405
30 sg:pub.10.1038/nature10814
31 sg:pub.10.1038/ng1877
32 sg:pub.10.1038/ng786
33 sg:pub.10.1038/nmeth0410-248
34 sg:pub.10.1186/1471-2156-6-s1-s13
35 https://app.dimensions.ai/details/publication/pub.1082894758
36 https://doi.org/10.1002/prot.340230306
37 https://doi.org/10.1006/geno.2000.6181
38 https://doi.org/10.1016/j.biocel.2006.09.003
39 https://doi.org/10.1016/j.cmet.2007.03.009
40 https://doi.org/10.1016/s0092-8674(01)00241-0
41 https://doi.org/10.1016/s0962-8924(99)01673-6
42 https://doi.org/10.1038/sj.emboj.7600186
43 https://doi.org/10.1074/jbc.m111.245126
44 https://doi.org/10.1083/jcb.200110063
45 https://doi.org/10.1091/mbc.10.7.2361
46 https://doi.org/10.1091/mbc.e03-12-0878
47 https://doi.org/10.1093/bioinformatics/bti009
48 https://doi.org/10.1093/bioinformatics/btp528
49 https://doi.org/10.1093/nar/gkg509
50 https://doi.org/10.1093/nar/gkq603
51 https://doi.org/10.1097/00004872-199400127-00005
52 https://doi.org/10.1097/00004872-199408000-00018
53 https://doi.org/10.1101/gr.3715005
54 https://doi.org/10.1111/j.1600-0854.2006.00395.x
55 https://doi.org/10.1126/science.1062844
56 https://doi.org/10.1152/ajprenal.00401.2009
57 https://doi.org/10.1152/ajprenal.00441.2009
58 https://doi.org/10.1152/physiolgenomics.00093.2010
59 https://doi.org/10.1152/physrev.00056.2003
60 https://doi.org/10.1152/physrev.1998.78.4.1109
61 https://doi.org/10.1242/jcs.025312
62 https://doi.org/10.1371/journal.pone.0013630
63 https://doi.org/10.1681/asn.2005030314
64 https://doi.org/10.1681/asn.2011020132
65 schema:datePublished 2012-04
66 schema:datePublishedReg 2012-04-01
67 schema:description Familial hyperkalemic hypertension (FHHt) is a Mendelian form of arterial hypertension that is partially explained by mutations in WNK1 and WNK4 that lead to increased activity of the Na(+)-Cl(-) cotransporter (NCC) in the distal nephron. Using combined linkage analysis and whole-exome sequencing in two families, we identified KLHL3 as a third gene responsible for FHHt. Direct sequencing of 43 other affected individuals revealed 11 additional missense mutations that were associated with heterogeneous phenotypes and diverse modes of inheritance. Polymorphisms at KLHL3 were not associated with blood pressure. The KLHL3 protein belongs to the BTB-BACK-kelch family of actin-binding proteins that recruit substrates for Cullin3-based ubiquitin ligase complexes. KLHL3 is coexpressed with NCC and downregulates NCC expression at the cell surface. Our study establishes a role for KLHL3 as a new member of the complex signaling pathway regulating ion homeostasis in the distal nephron and indirectly blood pressure.
68 schema:genre research_article
69 schema:inLanguage en
70 schema:isAccessibleForFree false
71 schema:isPartOf N1229c9c0667044d0af79c8f2b842505c
72 N74291c5613f740de8b9734455596b948
73 sg:journal.1103138
74 schema:name KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron
75 schema:pagination 456
76 schema:productId N4d3b6aeb81a947459c05d2eb3483dcc9
77 N5dffa40d97034244a2df690d36fd1cba
78 N6d0784813e4b414a942bda020c01b59b
79 N9d22227ca29644e3a38a2b0e3f83eb99
80 Nbe351fbdee35472faecd8cdf07049d57
81 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050920050
82 https://doi.org/10.1038/ng.2218
83 schema:sdDatePublished 2019-04-10T23:13
84 schema:sdLicense https://scigraph.springernature.com/explorer/license/
85 schema:sdPublisher N2766ff02bdc74c4fb6a628a3930e7aa0
86 schema:url https://www.nature.com/articles/ng.2218
87 sgo:license sg:explorer/license/
88 sgo:sdDataset articles
89 rdf:type schema:ScholarlyArticle
90 N00cea878b4dd4ff6a057d90781e17b19 rdf:first sg:person.0663676174.53
91 rdf:rest Nae24c6e7626f478ea1b29033f0d50108
92 N018bb84097cf488dba40a61b563615e4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
93 schema:name Kidney
94 rdf:type schema:DefinedTerm
95 N0f35bd1102ed490aa4bd357385f75313 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
96 schema:name Child
97 rdf:type schema:DefinedTerm
98 N1229c9c0667044d0af79c8f2b842505c schema:volumeNumber 44
99 rdf:type schema:PublicationVolume
100 N13576c1b6ef148d9b5c17c0cd1a62825 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
101 schema:name Aged, 80 and over
102 rdf:type schema:DefinedTerm
103 N1aa1b18c17a64eba8a5aab670956d592 rdf:first sg:person.01314751203.80
104 rdf:rest N684b10606751423cae1b5f8fcac15e36
105 N1e5cd2fa233a4d23824bae1001516304 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
106 schema:name Female
107 rdf:type schema:DefinedTerm
108 N1f1cd1728bef44c28223207ba32b2824 rdf:first sg:person.01242635311.30
109 rdf:rest N91835db7abdd49c289969e00b6bf13df
110 N26df16d40de54765bfe75514fab51a75 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
111 schema:name Molecular Sequence Data
112 rdf:type schema:DefinedTerm
113 N2766ff02bdc74c4fb6a628a3930e7aa0 schema:name Springer Nature - SN SciGraph project
114 rdf:type schema:Organization
115 N28e415452e34476b815b25bfab0671bd rdf:first sg:person.01336161505.85
116 rdf:rest N3aa37284df804700977d8269efb08a69
117 N2e2702aae21344ca9e21ad9d25007acd rdf:first sg:person.0630161707.73
118 rdf:rest N868b979bf81e44ce9f5cd71d80a033e6
119 N2ffa7be40fe64136ab728cb7afd29d1c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
120 schema:name Pseudohypoaldosteronism
121 rdf:type schema:DefinedTerm
122 N3371cfbf2ffd4f46953e3383c272c49d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
123 schema:name Nephrons
124 rdf:type schema:DefinedTerm
125 N38a55aaae7a342078f2d1b4c6fd18690 rdf:first sg:person.0746134044.63
126 rdf:rest N78abb52cffb54bf894c35c9c4af740a2
127 N3aa37284df804700977d8269efb08a69 rdf:first sg:person.01315145421.19
128 rdf:rest N51fe8510823742b3aedca00de8b9dd2b
129 N40c105364cc54d3b8c4d1a3fbcfcfc8c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
130 schema:name Male
131 rdf:type schema:DefinedTerm
132 N43aeb0e0ae5e483196fc02885dc499a6 rdf:first sg:person.01202265306.12
133 rdf:rest N5683c22a9a714cf7ab919bf960afe4e6
134 N4833a3634cec4fa98537dd252bb70e86 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
135 schema:name Blood Pressure
136 rdf:type schema:DefinedTerm
137 N49bafd6ef81a4eb88c69dc7bcf834551 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
138 schema:name Carrier Proteins
139 rdf:type schema:DefinedTerm
140 N4b972f05302948fcb402603e4554e86b rdf:first sg:person.01305443221.13
141 rdf:rest N667b9e8feb69455297dec100468713c9
142 N4c1e09a24e644ed9bcaf0fb752f4357e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
143 schema:name Sodium Chloride Symporters
144 rdf:type schema:DefinedTerm
145 N4c360092e30d474d97b21757f7435058 schema:affiliation https://www.grid.ac/institutes/grid.16149.3b
146 schema:familyName Konrad
147 schema:givenName Martin
148 rdf:type schema:Person
149 N4d3b6aeb81a947459c05d2eb3483dcc9 schema:name pubmed_id
150 schema:value 22406640
151 rdf:type schema:PropertyValue
152 N512da355afdc477ba2fa0f986e0c4713 rdf:first sg:person.01037515214.11
153 rdf:rest N93b0c264222c420d921cc0f3bb178c8e
154 N51fe8510823742b3aedca00de8b9dd2b rdf:first sg:person.01313011163.25
155 rdf:rest Nb97a1fae3a5b414eb50b2c249db2e1e3
156 N52e2a547243f48c9893d49e300ce179f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
157 schema:name Young Adult
158 rdf:type schema:DefinedTerm
159 N5484608ae6354d7ea3f1e51ec285bf9c rdf:first sg:person.01231531553.77
160 rdf:rest Nb4693d56230d4d5dbe34d0817c92a6b9
161 N559eda508d434fadaf3ff57444454f21 rdf:first sg:person.0606417301.85
162 rdf:rest N1f1cd1728bef44c28223207ba32b2824
163 N5683c22a9a714cf7ab919bf960afe4e6 rdf:first sg:person.01364772247.08
164 rdf:rest Nc19816e07a3d42e0ac9b445f212d07a9
165 N576a6fad442a40f3b4499fdd0f3a7ee8 schema:affiliation https://www.grid.ac/institutes/grid.4444.0
166 schema:familyName Sand
167 schema:givenName Olivier
168 rdf:type schema:Person
169 N5dffa40d97034244a2df690d36fd1cba schema:name dimensions_id
170 schema:value pub.1050920050
171 rdf:type schema:PropertyValue
172 N642ce04cfc8448b69138e3863c43d9fa schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
173 schema:name Adolescent
174 rdf:type schema:DefinedTerm
175 N65926c7ead8b4625ba83c61e567c3564 rdf:first N4c360092e30d474d97b21757f7435058
176 rdf:rest N28e415452e34476b815b25bfab0671bd
177 N662473ef931246bcbd2051ddaa72d8de rdf:first sg:person.01123101421.84
178 rdf:rest N5484608ae6354d7ea3f1e51ec285bf9c
179 N667b9e8feb69455297dec100468713c9 rdf:first sg:person.0626061227.06
180 rdf:rest Nc36f29534b4540c88de3988e50639ed3
181 N67a506cf98f8419fbfcc035400b19a62 rdf:first sg:person.010222144267.59
182 rdf:rest N998f0126542740e083d1a74dbb8acca0
183 N684b10606751423cae1b5f8fcac15e36 rdf:first sg:person.01001727605.18
184 rdf:rest N6ea913edd60c4178be26a8360c942c25
185 N6d0784813e4b414a942bda020c01b59b schema:name doi
186 schema:value 10.1038/ng.2218
187 rdf:type schema:PropertyValue
188 N6ea913edd60c4178be26a8360c942c25 rdf:first sg:person.01127234251.70
189 rdf:rest N559eda508d434fadaf3ff57444454f21
190 N734249214a4646dd9bb35c40467aac56 schema:affiliation https://www.grid.ac/institutes/grid.462332.2
191 schema:familyName Pylypenko
192 schema:givenName Olena
193 rdf:type schema:Person
194 N74291c5613f740de8b9734455596b948 schema:issueNumber 4
195 rdf:type schema:PublicationIssue
196 N78abb52cffb54bf894c35c9c4af740a2 rdf:first Nd441cc25ffa5440fb22f82763730fd1d
197 rdf:rest N1aa1b18c17a64eba8a5aab670956d592
198 N7dc672976a234a4e85b8772a7056199c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
199 schema:name Base Sequence
200 rdf:type schema:DefinedTerm
201 N80afc5e6f2274f619f6574a439270436 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
202 schema:name Ion Transport
203 rdf:type schema:DefinedTerm
204 N830278ba8f9d49739fba2cde9ffdf5df rdf:first sg:person.0675214555.67
205 rdf:rest Ne1f25bd096844d2abf065ba7e30d7d34
206 N868b979bf81e44ce9f5cd71d80a033e6 rdf:first N576a6fad442a40f3b4499fdd0f3a7ee8
207 rdf:rest N43aeb0e0ae5e483196fc02885dc499a6
208 N89e4bed878d842079271d562aec576ab schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
209 schema:name Sequence Analysis, DNA
210 rdf:type schema:DefinedTerm
211 N91835db7abdd49c289969e00b6bf13df rdf:first N985a0ecf67f44a539c2241b96de3d0e8
212 rdf:rest N65926c7ead8b4625ba83c61e567c3564
213 N93b0c264222c420d921cc0f3bb178c8e rdf:first Nc3b2476142de473a9fc1d6fe478ac5f5
214 rdf:rest N00cea878b4dd4ff6a057d90781e17b19
215 N985a0ecf67f44a539c2241b96de3d0e8 schema:affiliation https://www.grid.ac/institutes/grid.16149.3b
216 schema:familyName Koenig
217 schema:givenName Jens
218 rdf:type schema:Person
219 N998f0126542740e083d1a74dbb8acca0 rdf:first sg:person.01274305514.13
220 rdf:rest N830278ba8f9d49739fba2cde9ffdf5df
221 N9d22227ca29644e3a38a2b0e3f83eb99 schema:name nlm_unique_id
222 schema:value 9216904
223 rdf:type schema:PropertyValue
224 Na2833896b18045c6b116ae71eb4b2ada rdf:first sg:person.01153143704.67
225 rdf:rest N2e2702aae21344ca9e21ad9d25007acd
226 Na3b90e9c6afb4e1f9d1381bb9bdb62e9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
227 schema:name Signal Transduction
228 rdf:type schema:DefinedTerm
229 Na6cf2a452d134d68827737008b91e4c3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
230 schema:name Adult
231 rdf:type schema:DefinedTerm
232 Nab62152d16504848ac3a6a78ea86fcaf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
233 schema:name Middle Aged
234 rdf:type schema:DefinedTerm
235 Nae24c6e7626f478ea1b29033f0d50108 rdf:first sg:person.01351041437.40
236 rdf:rest Ndbe522482ee740eb98d7ca5a79c26b9f
237 Nb4693d56230d4d5dbe34d0817c92a6b9 rdf:first sg:person.01237330021.31
238 rdf:rest N4b972f05302948fcb402603e4554e86b
239 Nb97a1fae3a5b414eb50b2c249db2e1e3 rdf:first sg:person.01350716445.92
240 rdf:rest N512da355afdc477ba2fa0f986e0c4713
241 Nbe351fbdee35472faecd8cdf07049d57 schema:name readcube_id
242 schema:value f29074c7213ce6736c6f4b4a4cb495e2b04b0f4e48f24467790947e2685e5dad
243 rdf:type schema:PropertyValue
244 Nc19816e07a3d42e0ac9b445f212d07a9 rdf:first sg:person.01175055721.00
245 rdf:rest Nea5af430a4d34ca1ba2aa35d65fe29a2
246 Nc36f29534b4540c88de3988e50639ed3 rdf:first N734249214a4646dd9bb35c40467aac56
247 rdf:rest Na2833896b18045c6b116ae71eb4b2ada
248 Nc3b2476142de473a9fc1d6fe478ac5f5 schema:affiliation https://www.grid.ac/institutes/grid.83440.3b
249 schema:familyName Unwin
250 schema:givenName Robert J
251 rdf:type schema:Person
252 Nc8f0af6f214b47009b1ebed105a5cb0a rdf:first sg:person.01357245131.84
253 rdf:rest Ncf6127711d5d4209ace9a67bde62e90a
254 Ncf6127711d5d4209ace9a67bde62e90a rdf:first sg:person.01301545572.88
255 rdf:rest rdf:nil
256 Nd3afe7797e7345e6816d046f3a429275 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
257 schema:name Polymorphism, Single Nucleotide
258 rdf:type schema:DefinedTerm
259 Nd441cc25ffa5440fb22f82763730fd1d schema:affiliation Nfe6840cfdf524977baec4419223847eb
260 schema:familyName Chabre
261 schema:givenName Olivier
262 rdf:type schema:Person
263 Nd50caac38dfe43b9bd6b09a4a48e63ec schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
264 schema:name Humans
265 rdf:type schema:DefinedTerm
266 Nd6d8ea42c5d5462ebe7b4e36feb837c7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
267 schema:name Amino Acid Sequence
268 rdf:type schema:DefinedTerm
269 Ndbe522482ee740eb98d7ca5a79c26b9f rdf:first sg:person.01240417541.45
270 rdf:rest Ned6b80928c134aeebaf0891dca3d026c
271 Ne1f25bd096844d2abf065ba7e30d7d34 rdf:first sg:person.015652454457.90
272 rdf:rest Nf620b31a68ac4edbb603db7e313e7e53
273 Nea5af430a4d34ca1ba2aa35d65fe29a2 rdf:first sg:person.056055065.61
274 rdf:rest N38a55aaae7a342078f2d1b4c6fd18690
275 Ned6b80928c134aeebaf0891dca3d026c rdf:first sg:person.01115613606.51
276 rdf:rest N67a506cf98f8419fbfcc035400b19a62
277 Nf620b31a68ac4edbb603db7e313e7e53 rdf:first sg:person.0606162142.42
278 rdf:rest Nc8f0af6f214b47009b1ebed105a5cb0a
279 Nfd04a171c8dc41579f679b7e4ab7b2c3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
280 schema:name Aged
281 rdf:type schema:DefinedTerm
282 Nfe6840cfdf524977baec4419223847eb schema:name CHU de Grenoble, Université Joseph Fourier, Grenoble, France.
283 rdf:type schema:Organization
284 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
285 schema:name Biological Sciences
286 rdf:type schema:DefinedTerm
287 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
288 schema:name Genetics
289 rdf:type schema:DefinedTerm
290 sg:grant.2754723 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.2218
291 rdf:type schema:MonetaryGrant
292 sg:grant.3786636 http://pending.schema.org/fundedItem sg:pub.10.1038/ng.2218
293 rdf:type schema:MonetaryGrant
294 sg:journal.1103138 schema:issn 1061-4036
295 1546-1718
296 schema:name Nature Genetics
297 rdf:type schema:Periodical
298 sg:person.01001727605.18 schema:affiliation https://www.grid.ac/institutes/grid.10737.32
299 schema:familyName Esnault
300 schema:givenName Vincent
301 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01001727605.18
302 rdf:type schema:Person
303 sg:person.010222144267.59 schema:familyName Pressure
304 schema:givenName International Consortium for Blood
305 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010222144267.59
306 rdf:type schema:Person
307 sg:person.01037515214.11 schema:affiliation https://www.grid.ac/institutes/grid.5613.1
308 schema:familyName Thauvin
309 schema:givenName Christel
310 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01037515214.11
311 rdf:type schema:Person
312 sg:person.01115613606.51 schema:affiliation https://www.grid.ac/institutes/grid.4868.2
313 schema:familyName Caulfield
314 schema:givenName Mark
315 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01115613606.51
316 rdf:type schema:Person
317 sg:person.01123101421.84 schema:affiliation https://www.grid.ac/institutes/grid.414093.b
318 schema:familyName Louis-Dit-Picard
319 schema:givenName Hélène
320 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01123101421.84
321 rdf:type schema:Person
322 sg:person.01127234251.70 schema:affiliation https://www.grid.ac/institutes/grid.414093.b
323 schema:familyName Fiquet
324 schema:givenName Béatrice
325 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01127234251.70
326 rdf:type schema:Person
327 sg:person.01153143704.67 schema:affiliation https://www.grid.ac/institutes/grid.414093.b
328 schema:familyName Beaurain
329 schema:givenName Geneviève
330 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01153143704.67
331 rdf:type schema:Person
332 sg:person.01175055721.00 schema:affiliation https://www.grid.ac/institutes/grid.10992.33
333 schema:familyName Soukaseum
334 schema:givenName Christelle
335 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01175055721.00
336 rdf:type schema:Person
337 sg:person.01202265306.12 schema:affiliation https://www.grid.ac/institutes/grid.414093.b
338 schema:familyName Simian
339 schema:givenName Christophe
340 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01202265306.12
341 rdf:type schema:Person
342 sg:person.01231531553.77 schema:affiliation https://www.grid.ac/institutes/grid.4444.0
343 schema:familyName Barc
344 schema:givenName Julien
345 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01231531553.77
346 rdf:type schema:Person
347 sg:person.01237330021.31 schema:affiliation https://www.grid.ac/institutes/grid.466571.7
348 schema:familyName Trujillano
349 schema:givenName Daniel
350 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237330021.31
351 rdf:type schema:Person
352 sg:person.01240417541.45 schema:affiliation https://www.grid.ac/institutes/grid.5612.0
353 schema:familyName Ossowski
354 schema:givenName Stephan
355 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01240417541.45
356 rdf:type schema:Person
357 sg:person.01242635311.30 schema:affiliation https://www.grid.ac/institutes/grid.411439.a
358 schema:familyName Bagnis
359 schema:givenName Corinne Isnard
360 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01242635311.30
361 rdf:type schema:Person
362 sg:person.01274305514.13 schema:affiliation https://www.grid.ac/institutes/grid.414093.b
363 schema:familyName Bruneval
364 schema:givenName Patrick
365 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01274305514.13
366 rdf:type schema:Person
367 sg:person.01301545572.88 schema:affiliation https://www.grid.ac/institutes/grid.414093.b
368 schema:familyName Jeunemaitre
369 schema:givenName Xavier
370 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01301545572.88
371 rdf:type schema:Person
372 sg:person.01305443221.13 schema:affiliation https://www.grid.ac/institutes/grid.462332.2
373 schema:familyName Miserey-Lenkei
374 schema:givenName Stéphanie
375 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01305443221.13
376 rdf:type schema:Person
377 sg:person.01313011163.25 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
378 schema:familyName Niaudet
379 schema:givenName Patrick
380 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313011163.25
381 rdf:type schema:Person
382 sg:person.01314751203.80 schema:affiliation https://www.grid.ac/institutes/grid.414106.6
383 schema:familyName Delahousse
384 schema:givenName Michel
385 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01314751203.80
386 rdf:type schema:Person
387 sg:person.01315145421.19 schema:affiliation https://www.grid.ac/institutes/grid.413559.f
388 schema:familyName Mourani
389 schema:givenName Chebel
390 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01315145421.19
391 rdf:type schema:Person
392 sg:person.01336161505.85 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
393 schema:familyName Landais
394 schema:givenName Paul
395 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01336161505.85
396 rdf:type schema:Person
397 sg:person.01350716445.92 schema:affiliation https://www.grid.ac/institutes/grid.277151.7
398 schema:familyName Probst
399 schema:givenName Vincent
400 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01350716445.92
401 rdf:type schema:Person
402 sg:person.01351041437.40 schema:affiliation https://www.grid.ac/institutes/grid.8591.5
403 schema:familyName Ehret
404 schema:givenName Georg
405 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01351041437.40
406 rdf:type schema:Person
407 sg:person.01357245131.84 schema:affiliation https://www.grid.ac/institutes/grid.277151.7
408 schema:familyName Schott
409 schema:givenName Jean-Jacques
410 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01357245131.84
411 rdf:type schema:Person
412 sg:person.01364772247.08 schema:affiliation https://www.grid.ac/institutes/grid.10992.33
413 schema:familyName Vidal-Petiot
414 schema:givenName Emmanuelle
415 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01364772247.08
416 rdf:type schema:Person
417 sg:person.015652454457.90 schema:affiliation https://www.grid.ac/institutes/grid.7445.2
418 schema:familyName Froguel
419 schema:givenName Philippe
420 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015652454457.90
421 rdf:type schema:Person
422 sg:person.056055065.61 schema:affiliation https://www.grid.ac/institutes/grid.10992.33
423 schema:familyName Mandet
424 schema:givenName Chantal
425 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.056055065.61
426 rdf:type schema:Person
427 sg:person.0606162142.42 schema:affiliation https://www.grid.ac/institutes/grid.10992.33
428 schema:familyName Hadchouel
429 schema:givenName Juliette
430 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0606162142.42
431 rdf:type schema:Person
432 sg:person.0606417301.85 schema:affiliation https://www.grid.ac/institutes/grid.7429.8
433 schema:familyName Houillier
434 schema:givenName Pascal
435 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0606417301.85
436 rdf:type schema:Person
437 sg:person.0626061227.06 schema:affiliation https://www.grid.ac/institutes/grid.10992.33
438 schema:familyName Bouatia-Naji
439 schema:givenName Nabila
440 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0626061227.06
441 rdf:type schema:Person
442 sg:person.0630161707.73 schema:affiliation https://www.grid.ac/institutes/grid.4444.0
443 schema:familyName Bonnefond
444 schema:givenName Amélie
445 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0630161707.73
446 rdf:type schema:Person
447 sg:person.0663676174.53 schema:affiliation https://www.grid.ac/institutes/grid.55602.34
448 schema:familyName Soroka
449 schema:givenName Steven D
450 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0663676174.53
451 rdf:type schema:Person
452 sg:person.0675214555.67 schema:affiliation https://www.grid.ac/institutes/grid.5612.0
453 schema:familyName Estivill
454 schema:givenName Xavier
455 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0675214555.67
456 rdf:type schema:Person
457 sg:person.0746134044.63 schema:affiliation https://www.grid.ac/institutes/grid.10400.35
458 schema:familyName Broux
459 schema:givenName Françoise
460 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746134044.63
461 rdf:type schema:Person
462 sg:pub.10.1038/ki.1995.432 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048645706
463 https://doi.org/10.1038/ki.1995.432
464 rdf:type schema:CreativeWork
465 sg:pub.10.1038/nature08250 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038593056
466 https://doi.org/10.1038/nature08250
467 rdf:type schema:CreativeWork
468 sg:pub.10.1038/nature10405 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000059117
469 https://doi.org/10.1038/nature10405
470 rdf:type schema:CreativeWork
471 sg:pub.10.1038/nature10814 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039812741
472 https://doi.org/10.1038/nature10814
473 rdf:type schema:CreativeWork
474 sg:pub.10.1038/ng1877 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037827426
475 https://doi.org/10.1038/ng1877
476 rdf:type schema:CreativeWork
477 sg:pub.10.1038/ng786 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041343500
478 https://doi.org/10.1038/ng786
479 rdf:type schema:CreativeWork
480 sg:pub.10.1038/nmeth0410-248 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007489634
481 https://doi.org/10.1038/nmeth0410-248
482 rdf:type schema:CreativeWork
483 sg:pub.10.1186/1471-2156-6-s1-s13 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013957099
484 https://doi.org/10.1186/1471-2156-6-s1-s13
485 rdf:type schema:CreativeWork
486 https://app.dimensions.ai/details/publication/pub.1082894758 schema:CreativeWork
487 https://doi.org/10.1002/prot.340230306 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020617829
488 rdf:type schema:CreativeWork
489 https://doi.org/10.1006/geno.2000.6181 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028873925
490 rdf:type schema:CreativeWork
491 https://doi.org/10.1016/j.biocel.2006.09.003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010516970
492 rdf:type schema:CreativeWork
493 https://doi.org/10.1016/j.cmet.2007.03.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036428050
494 rdf:type schema:CreativeWork
495 https://doi.org/10.1016/s0092-8674(01)00241-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029883534
496 rdf:type schema:CreativeWork
497 https://doi.org/10.1016/s0962-8924(99)01673-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002021768
498 rdf:type schema:CreativeWork
499 https://doi.org/10.1038/sj.emboj.7600186 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043448185
500 rdf:type schema:CreativeWork
501 https://doi.org/10.1074/jbc.m111.245126 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020562878
502 rdf:type schema:CreativeWork
503 https://doi.org/10.1083/jcb.200110063 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043357865
504 rdf:type schema:CreativeWork
505 https://doi.org/10.1091/mbc.10.7.2361 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046408694
506 rdf:type schema:CreativeWork
507 https://doi.org/10.1091/mbc.e03-12-0878 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044971047
508 rdf:type schema:CreativeWork
509 https://doi.org/10.1093/bioinformatics/bti009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050481280
510 rdf:type schema:CreativeWork
511 https://doi.org/10.1093/bioinformatics/btp528 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041879321
512 rdf:type schema:CreativeWork
513 https://doi.org/10.1093/nar/gkg509 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002198958
514 rdf:type schema:CreativeWork
515 https://doi.org/10.1093/nar/gkq603 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020792304
516 rdf:type schema:CreativeWork
517 https://doi.org/10.1097/00004872-199400127-00005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047560910
518 rdf:type schema:CreativeWork
519 https://doi.org/10.1097/00004872-199408000-00018 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046245585
520 rdf:type schema:CreativeWork
521 https://doi.org/10.1101/gr.3715005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048048079
522 rdf:type schema:CreativeWork
523 https://doi.org/10.1111/j.1600-0854.2006.00395.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1010123808
524 rdf:type schema:CreativeWork
525 https://doi.org/10.1126/science.1062844 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062445257
526 rdf:type schema:CreativeWork
527 https://doi.org/10.1152/ajprenal.00401.2009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048991808
528 rdf:type schema:CreativeWork
529 https://doi.org/10.1152/ajprenal.00441.2009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027865980
530 rdf:type schema:CreativeWork
531 https://doi.org/10.1152/physiolgenomics.00093.2010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037415250
532 rdf:type schema:CreativeWork
533 https://doi.org/10.1152/physrev.00056.2003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052833324
534 rdf:type schema:CreativeWork
535 https://doi.org/10.1152/physrev.1998.78.4.1109 schema:sameAs https://app.dimensions.ai/details/publication/pub.1083337135
536 rdf:type schema:CreativeWork
537 https://doi.org/10.1242/jcs.025312 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036315246
538 rdf:type schema:CreativeWork
539 https://doi.org/10.1371/journal.pone.0013630 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033698634
540 rdf:type schema:CreativeWork
541 https://doi.org/10.1681/asn.2005030314 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019060609
542 rdf:type schema:CreativeWork
543 https://doi.org/10.1681/asn.2011020132 schema:sameAs https://app.dimensions.ai/details/publication/pub.1031727968
544 rdf:type schema:CreativeWork
545 https://www.grid.ac/institutes/grid.10400.35 schema:alternateName University of Rouen
546 schema:name Département de Pédiatrie Médicale, Centre Hospitalier Universitaire (CHU) Charles Nicolle, Université de Rouen, Rouen, France.
547 rdf:type schema:Organization
548 https://www.grid.ac/institutes/grid.10737.32 schema:alternateName Nice Sophia Antipolis University
549 schema:name Faculty of Medicine, Université de Nice Sophia Antipolis, Nice, France.
550 Service de Néphrologie, CHU de Nice, Hôpital Pasteur, Nice, France.
551 rdf:type schema:Organization
552 https://www.grid.ac/institutes/grid.10992.33 schema:alternateName Paris Descartes University
553 schema:name Faculty of Medicine, Université Paris Descartes, Pôle de Recherche et d'Enseignement Supérieur (PRES) Sorbonne Paris Cité, Paris, France.
554 Institut National de la Santé et de la Recherche Médicale (INSERM), Unité Mixte de Recherche Scientifique (UMRS) 970, Paris–Centre de Recherche Cardiovasculaire (PARCC), Paris, France.
555 rdf:type schema:Organization
556 https://www.grid.ac/institutes/grid.16149.3b schema:alternateName University Hospital Münster
557 schema:name Department of General Pediatrics, University Children's Hospital Münster, Münster, Germany.
558 rdf:type schema:Organization
559 https://www.grid.ac/institutes/grid.277151.7 schema:alternateName Centre Hospitalier Universitaire de Nantes
560 schema:name Centre National de la Recherche Scientifique (CNRS), Équipe de Recherche Labellisée (ERL) 3147, Nantes, France.
561 Faculty of Medicine, Université de Nantes, Nantes, France.
562 Genes and Disease Program, Center for Genomic Regulation (CGR) and Pompeu Fabra University, Barcelona, Spain.
563 INSERM, Unité Mixte de Recherche (UMR) 1087, Institut du Thorax, Université de Nantes, Nantes, France.
564 Service de Cardiologie Nantes, CHU de Nantes, Institut du Thorax, Nantes, France.
565 rdf:type schema:Organization
566 https://www.grid.ac/institutes/grid.411439.a schema:alternateName Pitié-Salpêtrière Hospital
567 schema:name Nephrology Department, AP-HP, Hôpital Pitié-Salpétrière, Paris, France.
568 rdf:type schema:Organization
569 https://www.grid.ac/institutes/grid.412134.1 schema:alternateName Necker-Enfants Malades Hospital
570 schema:name Faculty of Medicine, Université Paris Descartes, Pôle de Recherche et d'Enseignement Supérieur (PRES) Sorbonne Paris Cité, Paris, France.
571 INSERM, U507, Hôpital Necker, Paris, France.
572 Services de Néphrologie et Néphrologie Pédiatrique, AP-HP, Hôpital Necker, Paris, France.
573 rdf:type schema:Organization
574 https://www.grid.ac/institutes/grid.413559.f schema:alternateName Hôtel-Dieu de France
575 schema:name Departement de Pediatrie, Hotel Dieu de France, Beirut, Lebanon.
576 rdf:type schema:Organization
577 https://www.grid.ac/institutes/grid.414093.b schema:alternateName Hôpital Européen Georges-Pompidou
578 schema:name Département de Génétique, Assistance Publique–Hôpitaux de Paris (AP-HP), Hôpital Européen Georges Pompidou (HEGP), Paris, France.
579 Faculty of Medicine, Université Paris Descartes, Pôle de Recherche et d'Enseignement Supérieur (PRES) Sorbonne Paris Cité, Paris, France.
580 Institut National de la Santé et de la Recherche Médicale (INSERM), Unité Mixte de Recherche Scientifique (UMRS) 970, Paris–Centre de Recherche Cardiovasculaire (PARCC), Paris, France.
581 Service d'Anatomo Pathologie, AP-HP, HEGP, Paris, France.
582 Service d'Hypertension et Médecine Vasculaire, AP-HP, HEGP, Paris, France.
583 rdf:type schema:Organization
584 https://www.grid.ac/institutes/grid.414106.6 schema:alternateName Hôpital Foch
585 schema:name Département de Nephrologie, Hopital Foch, Suresnes, France.
586 rdf:type schema:Organization
587 https://www.grid.ac/institutes/grid.4444.0 schema:alternateName French National Centre for Scientific Research
588 schema:name CNRS, UMR 8199, Lille Pasteur Institute, Lille, France.
589 Centre National de la Recherche Scientifique (CNRS), Équipe de Recherche Labellisée (ERL) 3147, Nantes, France.
590 Faculty of Medicine, Lille Nord de France University, Lille, France.
591 Faculty of Medicine, Université de Nantes, Nantes, France.
592 INSERM, Unité Mixte de Recherche (UMR) 1087, Institut du Thorax, Université de Nantes, Nantes, France.
593 rdf:type schema:Organization
594 https://www.grid.ac/institutes/grid.462332.2 schema:alternateName Subcellular Structure and Cellular Dynamics
595 schema:name CNRS, UMR 144, Institut Curie, Paris, France.
596 rdf:type schema:Organization
597 https://www.grid.ac/institutes/grid.466571.7 schema:alternateName Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública
598 schema:name Genes and Disease Program, Center for Genomic Regulation (CGR) and Pompeu Fabra University, Barcelona, Spain.
599 Public Health and Epidemiology Network Biomedical Research Center (CIBERESP), Barcelona, Spain.
600 rdf:type schema:Organization
601 https://www.grid.ac/institutes/grid.4868.2 schema:alternateName Queen Mary University of London
602 schema:name Clinical Pharmacology and The Genome Centre, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
603 rdf:type schema:Organization
604 https://www.grid.ac/institutes/grid.55602.34 schema:alternateName Dalhousie University
605 schema:name Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.
606 rdf:type schema:Organization
607 https://www.grid.ac/institutes/grid.5612.0 schema:alternateName Pompeu Fabra University
608 schema:name Department of Health and Life Sciences, Pompeu Fabra University, Barcelona, Spain.
609 Genes and Disease Program, Center for Genomic Regulation (CGR) and Pompeu Fabra University, Barcelona, Spain.
610 Genomic and Epigenomic Variation in Disease Group, CGR and Pompeu Fabra University, Barcelona, Spain.
611 Public Health and Epidemiology Network Biomedical Research Center (CIBERESP), Barcelona, Spain.
612 rdf:type schema:Organization
613 https://www.grid.ac/institutes/grid.5613.1 schema:alternateName University of Burgundy
614 schema:name CHU de Dijon, Centre de Génétique, Dijon, France.
615 Faculté de Médecine, Université de Bourgogne, Dijon, France.
616 rdf:type schema:Organization
617 https://www.grid.ac/institutes/grid.7429.8 schema:alternateName French Institute of Health and Medical Research
618 schema:name Faculty of Medicine, Université Paris Descartes, Pôle de Recherche et d'Enseignement Supérieur (PRES) Sorbonne Paris Cité, Paris, France.
619 INSERM, UMR S872–Institut des Cordeliers, Paris, France.
620 Service d'Explorations Fonctionnelles Rénales, AP-HP, HEGP, Paris, France.
621 rdf:type schema:Organization
622 https://www.grid.ac/institutes/grid.7445.2 schema:alternateName Imperial College London
623 schema:name CNRS, UMR 8199, Lille Pasteur Institute, Lille, France.
624 Department of Genomics of Common Disease, School of Public Health, Imperial College London, Hammersmith Hospital, London, UK.
625 Faculty of Medicine, Lille Nord de France University, Lille, France.
626 rdf:type schema:Organization
627 https://www.grid.ac/institutes/grid.83440.3b schema:alternateName University College London
628 schema:name Centre for Nephrology, University College London Medical School, Royal Free Campus and Hospital, London, UK.
629 rdf:type schema:Organization
630 https://www.grid.ac/institutes/grid.8591.5 schema:alternateName University of Geneva
631 schema:name Cardiology, Department of Specialties of Internal Medicine, Geneva University, Geneva, Switzerland.
632 McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
633 rdf:type schema:Organization
 




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


...