Targeted therapy in patients with PIK3CA-related overgrowth syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-06

AUTHORS

Quitterie Venot, Thomas Blanc, Smail Hadj Rabia, Laureline Berteloot, Sophia Ladraa, Jean-Paul Duong, Estelle Blanc, Simon C. Johnson, Clément Hoguin, Olivia Boccara, Sabine Sarnacki, Nathalie Boddaert, Stephanie Pannier, Frank Martinez, Sato Magassa, Junna Yamaguchi, Bertrand Knebelmann, Pierre Merville, Nicolas Grenier, Dominique Joly, Valérie Cormier-Daire, Caroline Michot, Christine Bole-Feysot, Arnaud Picard, Véronique Soupre, Stanislas Lyonnet, Jeremy Sadoine, Lotfi Slimani, Catherine Chaussain, Cécile Laroche-Raynaud, Laurent Guibaud, Christine Broissand, Jeanne Amiel, Christophe Legendre, Fabiola Terzi, Guillaume Canaud

ABSTRACT

CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA-related overgrowth syndromes (PROS). This rare condition has no specific treatment and a poor survival rate. Here, we describe a postnatal mouse model of PROS/CLOVES that partially recapitulates the human disease, and demonstrate the efficacy of BYL719, an inhibitor of PIK3CA, in preventing and improving organ dysfunction. On the basis of these results, we used BYL719 to treat nineteen patients with PROS. The drug improved the disease symptoms in all patients. Previously intractable vascular tumours became smaller, congestive heart failure was improved, hemihypertrophy was reduced, and scoliosis was attenuated. The treatment was not associated with any substantial side effects. In conclusion, this study provides the first direct evidence supporting PIK3CA inhibition as a promising therapeutic strategy in patients with PROS. More... »

PAGES

540-546

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41586-018-0217-9

DOI

http://dx.doi.org/10.1038/s41586-018-0217-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1104557096

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29899452


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/2008/1102", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Cardiorespiratory Medicine and Haematology", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adult", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Animals", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Class I Phosphatidylinositol 3-Kinases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Disease Models, Animal", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "HeLa Cells", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Heart Failure", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Lipoma", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mice", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Molecular Targeted Therapy", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Musculoskeletal Abnormalities", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Nevus", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Phenotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Scoliosis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sirolimus", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Syndrome", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Thiazoles", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Vascular Malformations", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Vascular Neoplasms", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Institut Necker Enfants Malades", 
          "id": "https://www.grid.ac/institutes/grid.465541.7", 
          "name": [
            "INSERM U1151, Institut Necker Enfants Malades, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Venot", 
        "givenName": "Quitterie", 
        "id": "sg:person.0766154125.21", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0766154125.21"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "INSERM U1151, Institut Necker Enfants Malades, Paris, France", 
            "Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France", 
            "Service de Chirurgie Visc\u00e9rale P\u00e9diatrique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Blanc", 
        "givenName": "Thomas", 
        "id": "sg:person.01071410670.06", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01071410670.06"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France", 
            "Service de Dermatologie P\u00e9diatrique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France", 
            "UMR-1163 Institut Imagine, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rabia", 
        "givenName": "Smail Hadj", 
        "id": "sg:person.01217065235.99", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01217065235.99"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "UMR-1163 Institut Imagine, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France", 
            "D\u00e9partement de Radiologie P\u00e9diatrique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Berteloot", 
        "givenName": "Laureline", 
        "id": "sg:person.01220123736.41", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01220123736.41"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institut Necker Enfants Malades", 
          "id": "https://www.grid.ac/institutes/grid.465541.7", 
          "name": [
            "INSERM U1151, Institut Necker Enfants Malades, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ladraa", 
        "givenName": "Sophia", 
        "id": "sg:person.01127461666.80", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01127461666.80"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France", 
            "D\u00e9partement d\u2019Anatomopathologie, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Duong", 
        "givenName": "Jean-Paul", 
        "id": "sg:person.01264451407.74", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01264451407.74"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Marie Lannelongue", 
          "id": "https://www.grid.ac/institutes/grid.414221.0", 
          "name": [
            "D\u00e9partement de M\u00e9decine Nucl\u00e9aire, H\u00f4pital Marie Lannelongue, Le Plessis Robinsson, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Blanc", 
        "givenName": "Estelle", 
        "id": "sg:person.01113204436.80", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01113204436.80"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Seattle Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.240741.4", 
          "name": [
            "Department of Integrative Brain Research, Seattle Children\u2019s Research Institute, Seattle, WA, USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Johnson", 
        "givenName": "Simon C.", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institut Necker Enfants Malades", 
          "id": "https://www.grid.ac/institutes/grid.465541.7", 
          "name": [
            "INSERM U1151, Institut Necker Enfants Malades, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hoguin", 
        "givenName": "Cl\u00e9ment", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "Service de Dermatologie P\u00e9diatrique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Boccara", 
        "givenName": "Olivia", 
        "id": "sg:person.0742607767.41", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0742607767.41"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France", 
            "Service de Chirurgie Visc\u00e9rale P\u00e9diatrique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sarnacki", 
        "givenName": "Sabine", 
        "id": "sg:person.01363022356.99", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01363022356.99"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France", 
            "UMR-1163 Institut Imagine, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France", 
            "D\u00e9partement de Radiologie P\u00e9diatrique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Boddaert", 
        "givenName": "Nathalie", 
        "id": "sg:person.01245421214.89", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01245421214.89"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France", 
            "Service d\u2019Orthop\u00e9die P\u00e9diatrique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pannier", 
        "givenName": "Stephanie", 
        "id": "sg:person.01175005101.94", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01175005101.94"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "Service de N\u00e9phrologie Transplantation Adultes, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Martinez", 
        "givenName": "Frank", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institut Necker Enfants Malades", 
          "id": "https://www.grid.ac/institutes/grid.465541.7", 
          "name": [
            "INSERM U1151, Institut Necker Enfants Malades, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Magassa", 
        "givenName": "Sato", 
        "id": "sg:person.014274747050.92", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014274747050.92"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institut Necker Enfants Malades", 
          "id": "https://www.grid.ac/institutes/grid.465541.7", 
          "name": [
            "INSERM U1151, Institut Necker Enfants Malades, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Yamaguchi", 
        "givenName": "Junna", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "INSERM U1151, Institut Necker Enfants Malades, Paris, France", 
            "Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France", 
            "Service de N\u00e9phrologie Transplantation Adultes, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Knebelmann", 
        "givenName": "Bertrand", 
        "id": "sg:person.01266456260.00", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01266456260.00"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "French National Centre for Scientific Research", 
          "id": "https://www.grid.ac/institutes/grid.4444.0", 
          "name": [
            "Service de N\u00e9phrologie, Transplantation, Dialyse, Aph\u00e9r\u00e8ses, Centre Hospitalier Universitaire Pellegrin, Bordeaux, France", 
            "UMR CNRS 5164, Immuno ConcEpT, CNRS, Bordeaux, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Merville", 
        "givenName": "Pierre", 
        "id": "sg:person.01023001176.35", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01023001176.35"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier Universitaire de Bordeaux", 
          "id": "https://www.grid.ac/institutes/grid.42399.35", 
          "name": [
            "Service d\u2019Imagerie Diagnostique et Interventionnelle de l\u2019Adulte, Centre Hospitalier Universitaire Pellegrin, Bordeaux, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Grenier", 
        "givenName": "Nicolas", 
        "id": "sg:person.01355045004.09", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01355045004.09"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "INSERM U1151, Institut Necker Enfants Malades, Paris, France", 
            "Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France", 
            "Service de N\u00e9phrologie Transplantation Adultes, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Joly", 
        "givenName": "Dominique", 
        "id": "sg:person.0606542021.34", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0606542021.34"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France", 
            "UMR-1163 Institut Imagine, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France", 
            "Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cormier-Daire", 
        "givenName": "Val\u00e9rie", 
        "id": "sg:person.01131140550.50", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01131140550.50"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France", 
            "UMR-1163 Institut Imagine, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France", 
            "Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Michot", 
        "givenName": "Caroline", 
        "id": "sg:person.01225303345.87", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225303345.87"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "UMR-1163 Institut Imagine, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bole-Feysot", 
        "givenName": "Christine", 
        "id": "sg:person.01324351512.85", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01324351512.85"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France", 
            "Service de Chirurgie Maxillo-faciale et Chirurgie Plastique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Picard", 
        "givenName": "Arnaud", 
        "id": "sg:person.0653655011.19", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653655011.19"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "Service de Chirurgie Maxillo-faciale et Chirurgie Plastique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Soupre", 
        "givenName": "V\u00e9ronique", 
        "id": "sg:person.0756471077.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0756471077.25"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France", 
            "UMR-1163 Institut Imagine, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France", 
            "Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lyonnet", 
        "givenName": "Stanislas", 
        "id": "sg:person.01177147171.55", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01177147171.55"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Laboratory EA 2496 Orofacial Pathologies, Imaging and Biotherapies, Montrouge, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sadoine", 
        "givenName": "Jeremy", 
        "id": "sg:person.01120033235.04", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01120033235.04"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Laboratory EA 2496 Orofacial Pathologies, Imaging and Biotherapies, Montrouge, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Slimani", 
        "givenName": "Lotfi", 
        "id": "sg:person.01263312116.52", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01263312116.52"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Paris Descartes University", 
          "id": "https://www.grid.ac/institutes/grid.10992.33", 
          "name": [
            "Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France", 
            "Laboratory EA 2496 Orofacial Pathologies, Imaging and Biotherapies, Montrouge, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Chaussain", 
        "givenName": "Catherine", 
        "id": "sg:person.0766600750.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0766600750.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Service de Neurop\u00e9diatrie, H\u00f4pital de la M\u00e8re et de l\u2019Enfant, Limoges, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Laroche-Raynaud", 
        "givenName": "C\u00e9cile", 
        "id": "sg:person.0746423351.40", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746423351.40"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Femme-M\u00e8re-Enfant", 
          "id": "https://www.grid.ac/institutes/grid.414103.3", 
          "name": [
            "Service d\u2019Imagerie P\u00e9diatrique, H\u00f4pital Femme-M\u00e8re-Enfant, Bron, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Guibaud", 
        "givenName": "Laurent", 
        "id": "sg:person.01123510142.28", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01123510142.28"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "Pharmacie, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Broissand", 
        "givenName": "Christine", 
        "id": "sg:person.01106356357.20", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01106356357.20"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France", 
            "UMR-1163 Institut Imagine, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France", 
            "Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Amiel", 
        "givenName": "Jeanne", 
        "id": "sg:person.015046510322.20", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015046510322.20"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "INSERM U1151, Institut Necker Enfants Malades, Paris, France", 
            "Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France", 
            "Service de N\u00e9phrologie Transplantation Adultes, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Legendre", 
        "givenName": "Christophe", 
        "id": "sg:person.07562422057.98", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07562422057.98"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Paris Descartes University", 
          "id": "https://www.grid.ac/institutes/grid.10992.33", 
          "name": [
            "INSERM U1151, Institut Necker Enfants Malades, Paris, France", 
            "Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Terzi", 
        "givenName": "Fabiola", 
        "id": "sg:person.0577532075.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0577532075.25"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "INSERM U1151, Institut Necker Enfants Malades, Paris, France", 
            "Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France", 
            "Service de N\u00e9phrologie Transplantation Adultes, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Canaud", 
        "givenName": "Guillaume", 
        "id": "sg:person.01123337007.24", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01123337007.24"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1002/pbc.23124", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005455111"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1158/1535-7163.mct-13-0865", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009399453"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1158/1535-7163.mct-13-0865", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009399453"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.36552", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011820854"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/dbio.2002.0597", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014465698"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1096/fj.14-262782", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014484324"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ajhg.2012.05.006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014687232"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1158/0008-5472.can-05-2925", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016365658"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrc2664", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016821519", 
          "https://doi.org/10.1038/nrc2664"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrc2664", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016821519", 
          "https://doi.org/10.1038/nrc2664"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1158/1078-0432.ccr-16-0134", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017560001"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ydbio.2015.04.022", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025334750"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.36836", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034694906"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cell.2009.08.041", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037293630"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1128/mcb.16.8.4117", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038781953"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/gb-2002-3-7-research0034", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039751959", 
          "https://doi.org/10.1186/gb-2002-3-7-research0034"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrm3290", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041336945", 
          "https://doi.org/10.1038/nrm3290"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0092-8674(92)90166-a", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043312135"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1172/jci.insight.87623", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043794007"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1172/jci.insight.87623", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043794007"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00000421-198212000-00014", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045278392"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00000421-198212000-00014", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045278392"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nm.3313", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046808338", 
          "https://doi.org/10.1038/nm.3313"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.bmcl.2013.05.007", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052040265"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejmoa1312890", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053743092"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1715094", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062502504"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.279.5351.710", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062559462"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/scitranslmed.aad9982", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062689049"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1590/s0036-36342002000400009", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1068098489"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3791/2033", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1071422452"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cell.2017.04.001", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1084972993"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2018-06", 
    "datePublishedReg": "2018-06-01", 
    "description": "CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA-related overgrowth syndromes (PROS). This rare condition has no specific treatment and a poor survival rate. Here, we describe a postnatal mouse model of PROS/CLOVES that partially recapitulates the human disease, and demonstrate the efficacy of BYL719, an inhibitor of PIK3CA, in preventing and improving organ dysfunction. On the basis of these results, we used BYL719 to treat nineteen patients with PROS. The drug improved the disease symptoms in all patients. Previously intractable vascular tumours became smaller, congestive heart failure was improved, hemihypertrophy was reduced, and scoliosis was attenuated. The treatment was not associated with any substantial side effects. In conclusion, this study provides the first direct evidence supporting PIK3CA inhibition as a promising therapeutic strategy in patients with PROS.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/s41586-018-0217-9", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1018957", 
        "issn": [
          "0090-0028", 
          "1476-4687"
        ], 
        "name": "Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "7711", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "558"
      }
    ], 
    "name": "Targeted therapy in patients with PIK3CA-related overgrowth syndrome", 
    "pagination": "540-546", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "7e44675a1fcdb81247b776a6af1d27f279ed5ba660d9aaae9a195649b2cdab97"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "29899452"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "0410462"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/s41586-018-0217-9"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1104557096"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/s41586-018-0217-9", 
      "https://app.dimensions.ai/details/publication/pub.1104557096"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T13:50", 
    "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/v90/0000000371_0000000371/records_130794_00000005.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://www.nature.com/articles/s41586-018-0217-9"
  }
]
 

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.10.1038/s41586-018-0217-9'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s41586-018-0217-9'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41586-018-0217-9'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41586-018-0217-9'


 

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

524 TRIPLES      21 PREDICATES      78 URIs      43 LITERALS      31 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/s41586-018-0217-9 schema:about N03752d8dcdd2492b844dda4c04205816
2 N0b04de3198ca4deca2cfbbe8ffe2b022
3 N0e899b643fbb45bc958efe873d32fa46
4 N2cd29d71707b4860a2fdcc1fc85c45b4
5 N367ef5b6d81b42898f083eeec5a04903
6 N38ccb7fb7ecc43b6a04a507537f8683e
7 N4769df5108e14d21a3762d45e9ed553e
8 N4ff156d95d1949d9acddaa62562e481a
9 N527bdbc43ac441ad9f46fb15dc154ade
10 N6c9aa8e66cda40f89fe75d272d93ac4d
11 N74d7104b3e564e0b89d007e83c55c609
12 N7affc2e5bcf14f65877c8ff49c498758
13 N8b7efacbd27b4d479a0f530149be6e1d
14 N9ac2226f2b994a3f8894a0cd17a57855
15 Nae224705e5c84dedab5e6f5d5711e048
16 Nae48c8fab9404d9aac921edacef930a8
17 Nb611904abd1c49e39300ef982cac5d1c
18 Nc5b9d736966644c5ab8735a248a942bb
19 Nd9ff2a0cdd2d44178b36aa24ac19f8cb
20 Ne104d041b1a34e9991fa72c64c04da2d
21 Ne980edd07a05451c9d379f7f61fa74b7
22 Nfcd3afc4ad04449eb085c9ac97d4f19a
23 anzsrc-for:11
24 anzsrc-for:1102
25 schema:author Nc03901b3f03f4243a55d6ea9e57edbd5
26 schema:citation sg:pub.10.1038/nm.3313
27 sg:pub.10.1038/nrc2664
28 sg:pub.10.1038/nrm3290
29 sg:pub.10.1186/gb-2002-3-7-research0034
30 https://doi.org/10.1002/ajmg.a.36552
31 https://doi.org/10.1002/ajmg.a.36836
32 https://doi.org/10.1002/pbc.23124
33 https://doi.org/10.1006/dbio.2002.0597
34 https://doi.org/10.1016/0092-8674(92)90166-a
35 https://doi.org/10.1016/j.ajhg.2012.05.006
36 https://doi.org/10.1016/j.bmcl.2013.05.007
37 https://doi.org/10.1016/j.cell.2009.08.041
38 https://doi.org/10.1016/j.cell.2017.04.001
39 https://doi.org/10.1016/j.ydbio.2015.04.022
40 https://doi.org/10.1056/nejmoa1312890
41 https://doi.org/10.1096/fj.14-262782
42 https://doi.org/10.1097/00000421-198212000-00014
43 https://doi.org/10.1126/science.1715094
44 https://doi.org/10.1126/science.279.5351.710
45 https://doi.org/10.1126/scitranslmed.aad9982
46 https://doi.org/10.1128/mcb.16.8.4117
47 https://doi.org/10.1158/0008-5472.can-05-2925
48 https://doi.org/10.1158/1078-0432.ccr-16-0134
49 https://doi.org/10.1158/1535-7163.mct-13-0865
50 https://doi.org/10.1172/jci.insight.87623
51 https://doi.org/10.1590/s0036-36342002000400009
52 https://doi.org/10.3791/2033
53 schema:datePublished 2018-06
54 schema:datePublishedReg 2018-06-01
55 schema:description CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA-related overgrowth syndromes (PROS). This rare condition has no specific treatment and a poor survival rate. Here, we describe a postnatal mouse model of PROS/CLOVES that partially recapitulates the human disease, and demonstrate the efficacy of BYL719, an inhibitor of PIK3CA, in preventing and improving organ dysfunction. On the basis of these results, we used BYL719 to treat nineteen patients with PROS. The drug improved the disease symptoms in all patients. Previously intractable vascular tumours became smaller, congestive heart failure was improved, hemihypertrophy was reduced, and scoliosis was attenuated. The treatment was not associated with any substantial side effects. In conclusion, this study provides the first direct evidence supporting PIK3CA inhibition as a promising therapeutic strategy in patients with PROS.
56 schema:genre research_article
57 schema:inLanguage en
58 schema:isAccessibleForFree false
59 schema:isPartOf N0de8f97100c64f58a50bf0be9330a3f8
60 Ncde1782833b44b7c95b96c0e62316973
61 sg:journal.1018957
62 schema:name Targeted therapy in patients with PIK3CA-related overgrowth syndrome
63 schema:pagination 540-546
64 schema:productId N5d3383ad30df4d6f805e8e8f8a78b0a1
65 N63be43d435d84886b413305985856267
66 N8d20322310234afcaab4ca51f0c6b9a4
67 N9349f793037f4382a680c21c313e5953
68 Ne7694c97e76a4db0baeaa3aaa024af12
69 schema:sameAs https://app.dimensions.ai/details/publication/pub.1104557096
70 https://doi.org/10.1038/s41586-018-0217-9
71 schema:sdDatePublished 2019-04-11T13:50
72 schema:sdLicense https://scigraph.springernature.com/explorer/license/
73 schema:sdPublisher N3749e2d58e614545964bef4a0fae49ed
74 schema:url https://www.nature.com/articles/s41586-018-0217-9
75 sgo:license sg:explorer/license/
76 sgo:sdDataset articles
77 rdf:type schema:ScholarlyArticle
78 N00a22136f93344ee9be0444d44914ae4 rdf:first sg:person.01363022356.99
79 rdf:rest N89e8f6b61f47460ebb56f967464be2b3
80 N03752d8dcdd2492b844dda4c04205816 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
81 schema:name Lipoma
82 rdf:type schema:DefinedTerm
83 N0b04de3198ca4deca2cfbbe8ffe2b022 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
84 schema:name Nevus
85 rdf:type schema:DefinedTerm
86 N0c940375a95b438fbdcd837ad7dd863a rdf:first Nbbfb19ac3c014434ad000822834013fc
87 rdf:rest Nce539c2d35ca4db182145f157cb08877
88 N0de8f97100c64f58a50bf0be9330a3f8 schema:volumeNumber 558
89 rdf:type schema:PublicationVolume
90 N0e899b643fbb45bc958efe873d32fa46 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
91 schema:name Musculoskeletal Abnormalities
92 rdf:type schema:DefinedTerm
93 N0f019244872d48d798816be818a6888c rdf:first sg:person.01175005101.94
94 rdf:rest N0c940375a95b438fbdcd837ad7dd863a
95 N1065825b30db4497b57d117177288a00 rdf:first sg:person.01120033235.04
96 rdf:rest N145947197cc54248b5e69dacb5b9026a
97 N10b7f602672f4af6a1bb871d4da14abd rdf:first N9011610e3d644b70b19167626a1baafa
98 rdf:rest N91364ff9bacb4f60a5d32a2fbb39444e
99 N12b40cfa0a8242ce8bf1d46ee138cd75 rdf:first sg:person.01023001176.35
100 rdf:rest N44fd86cba4384ee49bf4d0e7ac977c37
101 N145947197cc54248b5e69dacb5b9026a rdf:first sg:person.01263312116.52
102 rdf:rest N7a5a92f237954d80a8970c5628dedbd4
103 N1b6059ff064446a8b084ad2259f11a17 rdf:first sg:person.015046510322.20
104 rdf:rest N9b002973686b425d85cbed1396d91306
105 N23a2be5540d04cd7b7cbc79e19d7e14f rdf:first sg:person.01225303345.87
106 rdf:rest Na3f30bee95c9402f8918c97971260ce0
107 N2cd29d71707b4860a2fdcc1fc85c45b4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
108 schema:name Child
109 rdf:type schema:DefinedTerm
110 N2cdbdad624d1448faa1a26d5b2d784df rdf:first sg:person.01127461666.80
111 rdf:rest N6a39e763981944099c63f8fae0e4a0f7
112 N367ef5b6d81b42898f083eeec5a04903 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
113 schema:name Female
114 rdf:type schema:DefinedTerm
115 N3749e2d58e614545964bef4a0fae49ed schema:name Springer Nature - SN SciGraph project
116 rdf:type schema:Organization
117 N383aca1a84c54549bcd40c899e4158e6 schema:affiliation https://www.grid.ac/institutes/grid.240741.4
118 schema:familyName Johnson
119 schema:givenName Simon C.
120 rdf:type schema:Person
121 N38ccb7fb7ecc43b6a04a507537f8683e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
122 schema:name Thiazoles
123 rdf:type schema:DefinedTerm
124 N44ca42a3c9ff4aa0be61887543a34bdc rdf:first sg:person.01131140550.50
125 rdf:rest N23a2be5540d04cd7b7cbc79e19d7e14f
126 N44fd86cba4384ee49bf4d0e7ac977c37 rdf:first sg:person.01355045004.09
127 rdf:rest Nff22d8a2499e479b84c34e84c75c3869
128 N4769df5108e14d21a3762d45e9ed553e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
129 schema:name Phenotype
130 rdf:type schema:DefinedTerm
131 N4ff156d95d1949d9acddaa62562e481a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
132 schema:name Molecular Targeted Therapy
133 rdf:type schema:DefinedTerm
134 N51b85d30971847a7a054f18d113512df schema:name Service de Neuropédiatrie, Hôpital de la Mère et de l’Enfant, Limoges, France
135 rdf:type schema:Organization
136 N527bdbc43ac441ad9f46fb15dc154ade schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
137 schema:name Vascular Neoplasms
138 rdf:type schema:DefinedTerm
139 N5628086708624e6eb996510c2a16a0dd rdf:first sg:person.01113204436.80
140 rdf:rest Naae9e770154e4a10b27578db92007732
141 N5760c64361444a3f9d68c2a6ff1c025a rdf:first sg:person.01071410670.06
142 rdf:rest Nab87f3b5b39b4930ba1c55f3ef184907
143 N59de030097704d508a83e1b1b628f718 rdf:first sg:person.01106356357.20
144 rdf:rest N1b6059ff064446a8b084ad2259f11a17
145 N5d3383ad30df4d6f805e8e8f8a78b0a1 schema:name doi
146 schema:value 10.1038/s41586-018-0217-9
147 rdf:type schema:PropertyValue
148 N63be43d435d84886b413305985856267 schema:name dimensions_id
149 schema:value pub.1104557096
150 rdf:type schema:PropertyValue
151 N6a39e763981944099c63f8fae0e4a0f7 rdf:first sg:person.01264451407.74
152 rdf:rest N5628086708624e6eb996510c2a16a0dd
153 N6b4193c855c841a48c0e0a01c7ee90d5 rdf:first sg:person.0756471077.25
154 rdf:rest Nc642e66eb7a24555956f9d110fb1910a
155 N6c9aa8e66cda40f89fe75d272d93ac4d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
156 schema:name Heart Failure
157 rdf:type schema:DefinedTerm
158 N74d7104b3e564e0b89d007e83c55c609 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
159 schema:name Male
160 rdf:type schema:DefinedTerm
161 N7a5a92f237954d80a8970c5628dedbd4 rdf:first sg:person.0766600750.31
162 rdf:rest N7f5bd777a3c14391bf847f1831df597e
163 N7a5dbfa5ee1c45b3a5669b306ec5dd05 rdf:first sg:person.01220123736.41
164 rdf:rest N2cdbdad624d1448faa1a26d5b2d784df
165 N7affc2e5bcf14f65877c8ff49c498758 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
166 schema:name Class I Phosphatidylinositol 3-Kinases
167 rdf:type schema:DefinedTerm
168 N7f5bd777a3c14391bf847f1831df597e rdf:first sg:person.0746423351.40
169 rdf:rest Nf1263486471e45d7b73af1aa6e2a8b9c
170 N7fc05a1c2aa04a089b0441d1a5422a79 schema:name Laboratory EA 2496 Orofacial Pathologies, Imaging and Biotherapies, Montrouge, France
171 rdf:type schema:Organization
172 N89e8f6b61f47460ebb56f967464be2b3 rdf:first sg:person.01245421214.89
173 rdf:rest N0f019244872d48d798816be818a6888c
174 N8b7efacbd27b4d479a0f530149be6e1d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
175 schema:name Adult
176 rdf:type schema:DefinedTerm
177 N8d20322310234afcaab4ca51f0c6b9a4 schema:name readcube_id
178 schema:value 7e44675a1fcdb81247b776a6af1d27f279ed5ba660d9aaae9a195649b2cdab97
179 rdf:type schema:PropertyValue
180 N8efcd919d7a341e49c8d1ceaa53a386f schema:name Laboratory EA 2496 Orofacial Pathologies, Imaging and Biotherapies, Montrouge, France
181 rdf:type schema:Organization
182 N9011610e3d644b70b19167626a1baafa schema:affiliation https://www.grid.ac/institutes/grid.465541.7
183 schema:familyName Hoguin
184 schema:givenName Clément
185 rdf:type schema:Person
186 N91364ff9bacb4f60a5d32a2fbb39444e rdf:first sg:person.0742607767.41
187 rdf:rest N00a22136f93344ee9be0444d44914ae4
188 N9349f793037f4382a680c21c313e5953 schema:name pubmed_id
189 schema:value 29899452
190 rdf:type schema:PropertyValue
191 N9ac2226f2b994a3f8894a0cd17a57855 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
192 schema:name Sirolimus
193 rdf:type schema:DefinedTerm
194 N9b002973686b425d85cbed1396d91306 rdf:first sg:person.07562422057.98
195 rdf:rest Nedf704cf227b4aae9643fe7d33496206
196 Na3f30bee95c9402f8918c97971260ce0 rdf:first sg:person.01324351512.85
197 rdf:rest Nd75fb741ac9d46949f775cbb1b6b1a14
198 Naae9e770154e4a10b27578db92007732 rdf:first N383aca1a84c54549bcd40c899e4158e6
199 rdf:rest N10b7f602672f4af6a1bb871d4da14abd
200 Nab87f3b5b39b4930ba1c55f3ef184907 rdf:first sg:person.01217065235.99
201 rdf:rest N7a5dbfa5ee1c45b3a5669b306ec5dd05
202 Nae224705e5c84dedab5e6f5d5711e048 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
203 schema:name Disease Models, Animal
204 rdf:type schema:DefinedTerm
205 Nae48c8fab9404d9aac921edacef930a8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
206 schema:name Mice
207 rdf:type schema:DefinedTerm
208 Nb560df31da3f406a854bc62fa6ebbb86 rdf:first sg:person.01123337007.24
209 rdf:rest rdf:nil
210 Nb611904abd1c49e39300ef982cac5d1c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
211 schema:name Vascular Malformations
212 rdf:type schema:DefinedTerm
213 Nba2aef9f95184cd396c197824745aa75 rdf:first Nbdb0870ad09747f192b4fe8cf4a5faac
214 rdf:rest Nc39a51ac5e974551bd83878378d4188f
215 Nbbfb19ac3c014434ad000822834013fc schema:affiliation https://www.grid.ac/institutes/grid.412134.1
216 schema:familyName Martinez
217 schema:givenName Frank
218 rdf:type schema:Person
219 Nbdb0870ad09747f192b4fe8cf4a5faac schema:affiliation https://www.grid.ac/institutes/grid.465541.7
220 schema:familyName Yamaguchi
221 schema:givenName Junna
222 rdf:type schema:Person
223 Nc03901b3f03f4243a55d6ea9e57edbd5 rdf:first sg:person.0766154125.21
224 rdf:rest N5760c64361444a3f9d68c2a6ff1c025a
225 Nc39a51ac5e974551bd83878378d4188f rdf:first sg:person.01266456260.00
226 rdf:rest N12b40cfa0a8242ce8bf1d46ee138cd75
227 Nc5b9d736966644c5ab8735a248a942bb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
228 schema:name Humans
229 rdf:type schema:DefinedTerm
230 Nc642e66eb7a24555956f9d110fb1910a rdf:first sg:person.01177147171.55
231 rdf:rest N1065825b30db4497b57d117177288a00
232 Ncde1782833b44b7c95b96c0e62316973 schema:issueNumber 7711
233 rdf:type schema:PublicationIssue
234 Nce539c2d35ca4db182145f157cb08877 rdf:first sg:person.014274747050.92
235 rdf:rest Nba2aef9f95184cd396c197824745aa75
236 Nd75fb741ac9d46949f775cbb1b6b1a14 rdf:first sg:person.0653655011.19
237 rdf:rest N6b4193c855c841a48c0e0a01c7ee90d5
238 Nd9ff2a0cdd2d44178b36aa24ac19f8cb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
239 schema:name Animals
240 rdf:type schema:DefinedTerm
241 Ne104d041b1a34e9991fa72c64c04da2d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
242 schema:name Syndrome
243 rdf:type schema:DefinedTerm
244 Ne7694c97e76a4db0baeaa3aaa024af12 schema:name nlm_unique_id
245 schema:value 0410462
246 rdf:type schema:PropertyValue
247 Ne980edd07a05451c9d379f7f61fa74b7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
248 schema:name Scoliosis
249 rdf:type schema:DefinedTerm
250 Nedf704cf227b4aae9643fe7d33496206 rdf:first sg:person.0577532075.25
251 rdf:rest Nb560df31da3f406a854bc62fa6ebbb86
252 Nf1263486471e45d7b73af1aa6e2a8b9c rdf:first sg:person.01123510142.28
253 rdf:rest N59de030097704d508a83e1b1b628f718
254 Nfcd3afc4ad04449eb085c9ac97d4f19a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
255 schema:name HeLa Cells
256 rdf:type schema:DefinedTerm
257 Nff22d8a2499e479b84c34e84c75c3869 rdf:first sg:person.0606542021.34
258 rdf:rest N44ca42a3c9ff4aa0be61887543a34bdc
259 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
260 schema:name Medical and Health Sciences
261 rdf:type schema:DefinedTerm
262 anzsrc-for:1102 schema:inDefinedTermSet anzsrc-for:
263 schema:name Cardiorespiratory Medicine and Haematology
264 rdf:type schema:DefinedTerm
265 sg:journal.1018957 schema:issn 0090-0028
266 1476-4687
267 schema:name Nature
268 rdf:type schema:Periodical
269 sg:person.01023001176.35 schema:affiliation https://www.grid.ac/institutes/grid.4444.0
270 schema:familyName Merville
271 schema:givenName Pierre
272 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01023001176.35
273 rdf:type schema:Person
274 sg:person.01071410670.06 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
275 schema:familyName Blanc
276 schema:givenName Thomas
277 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01071410670.06
278 rdf:type schema:Person
279 sg:person.01106356357.20 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
280 schema:familyName Broissand
281 schema:givenName Christine
282 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01106356357.20
283 rdf:type schema:Person
284 sg:person.01113204436.80 schema:affiliation https://www.grid.ac/institutes/grid.414221.0
285 schema:familyName Blanc
286 schema:givenName Estelle
287 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01113204436.80
288 rdf:type schema:Person
289 sg:person.01120033235.04 schema:affiliation N8efcd919d7a341e49c8d1ceaa53a386f
290 schema:familyName Sadoine
291 schema:givenName Jeremy
292 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01120033235.04
293 rdf:type schema:Person
294 sg:person.01123337007.24 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
295 schema:familyName Canaud
296 schema:givenName Guillaume
297 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01123337007.24
298 rdf:type schema:Person
299 sg:person.01123510142.28 schema:affiliation https://www.grid.ac/institutes/grid.414103.3
300 schema:familyName Guibaud
301 schema:givenName Laurent
302 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01123510142.28
303 rdf:type schema:Person
304 sg:person.01127461666.80 schema:affiliation https://www.grid.ac/institutes/grid.465541.7
305 schema:familyName Ladraa
306 schema:givenName Sophia
307 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01127461666.80
308 rdf:type schema:Person
309 sg:person.01131140550.50 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
310 schema:familyName Cormier-Daire
311 schema:givenName Valérie
312 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01131140550.50
313 rdf:type schema:Person
314 sg:person.01175005101.94 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
315 schema:familyName Pannier
316 schema:givenName Stephanie
317 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01175005101.94
318 rdf:type schema:Person
319 sg:person.01177147171.55 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
320 schema:familyName Lyonnet
321 schema:givenName Stanislas
322 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01177147171.55
323 rdf:type schema:Person
324 sg:person.01217065235.99 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
325 schema:familyName Rabia
326 schema:givenName Smail Hadj
327 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01217065235.99
328 rdf:type schema:Person
329 sg:person.01220123736.41 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
330 schema:familyName Berteloot
331 schema:givenName Laureline
332 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01220123736.41
333 rdf:type schema:Person
334 sg:person.01225303345.87 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
335 schema:familyName Michot
336 schema:givenName Caroline
337 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225303345.87
338 rdf:type schema:Person
339 sg:person.01245421214.89 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
340 schema:familyName Boddaert
341 schema:givenName Nathalie
342 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01245421214.89
343 rdf:type schema:Person
344 sg:person.01263312116.52 schema:affiliation N7fc05a1c2aa04a089b0441d1a5422a79
345 schema:familyName Slimani
346 schema:givenName Lotfi
347 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01263312116.52
348 rdf:type schema:Person
349 sg:person.01264451407.74 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
350 schema:familyName Duong
351 schema:givenName Jean-Paul
352 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01264451407.74
353 rdf:type schema:Person
354 sg:person.01266456260.00 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
355 schema:familyName Knebelmann
356 schema:givenName Bertrand
357 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01266456260.00
358 rdf:type schema:Person
359 sg:person.01324351512.85 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
360 schema:familyName Bole-Feysot
361 schema:givenName Christine
362 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01324351512.85
363 rdf:type schema:Person
364 sg:person.01355045004.09 schema:affiliation https://www.grid.ac/institutes/grid.42399.35
365 schema:familyName Grenier
366 schema:givenName Nicolas
367 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01355045004.09
368 rdf:type schema:Person
369 sg:person.01363022356.99 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
370 schema:familyName Sarnacki
371 schema:givenName Sabine
372 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01363022356.99
373 rdf:type schema:Person
374 sg:person.014274747050.92 schema:affiliation https://www.grid.ac/institutes/grid.465541.7
375 schema:familyName Magassa
376 schema:givenName Sato
377 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014274747050.92
378 rdf:type schema:Person
379 sg:person.015046510322.20 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
380 schema:familyName Amiel
381 schema:givenName Jeanne
382 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015046510322.20
383 rdf:type schema:Person
384 sg:person.0577532075.25 schema:affiliation https://www.grid.ac/institutes/grid.10992.33
385 schema:familyName Terzi
386 schema:givenName Fabiola
387 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0577532075.25
388 rdf:type schema:Person
389 sg:person.0606542021.34 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
390 schema:familyName Joly
391 schema:givenName Dominique
392 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0606542021.34
393 rdf:type schema:Person
394 sg:person.0653655011.19 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
395 schema:familyName Picard
396 schema:givenName Arnaud
397 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653655011.19
398 rdf:type schema:Person
399 sg:person.0742607767.41 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
400 schema:familyName Boccara
401 schema:givenName Olivia
402 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0742607767.41
403 rdf:type schema:Person
404 sg:person.0746423351.40 schema:affiliation N51b85d30971847a7a054f18d113512df
405 schema:familyName Laroche-Raynaud
406 schema:givenName Cécile
407 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746423351.40
408 rdf:type schema:Person
409 sg:person.07562422057.98 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
410 schema:familyName Legendre
411 schema:givenName Christophe
412 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07562422057.98
413 rdf:type schema:Person
414 sg:person.0756471077.25 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
415 schema:familyName Soupre
416 schema:givenName Véronique
417 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0756471077.25
418 rdf:type schema:Person
419 sg:person.0766154125.21 schema:affiliation https://www.grid.ac/institutes/grid.465541.7
420 schema:familyName Venot
421 schema:givenName Quitterie
422 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0766154125.21
423 rdf:type schema:Person
424 sg:person.0766600750.31 schema:affiliation https://www.grid.ac/institutes/grid.10992.33
425 schema:familyName Chaussain
426 schema:givenName Catherine
427 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0766600750.31
428 rdf:type schema:Person
429 sg:pub.10.1038/nm.3313 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046808338
430 https://doi.org/10.1038/nm.3313
431 rdf:type schema:CreativeWork
432 sg:pub.10.1038/nrc2664 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016821519
433 https://doi.org/10.1038/nrc2664
434 rdf:type schema:CreativeWork
435 sg:pub.10.1038/nrm3290 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041336945
436 https://doi.org/10.1038/nrm3290
437 rdf:type schema:CreativeWork
438 sg:pub.10.1186/gb-2002-3-7-research0034 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039751959
439 https://doi.org/10.1186/gb-2002-3-7-research0034
440 rdf:type schema:CreativeWork
441 https://doi.org/10.1002/ajmg.a.36552 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011820854
442 rdf:type schema:CreativeWork
443 https://doi.org/10.1002/ajmg.a.36836 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034694906
444 rdf:type schema:CreativeWork
445 https://doi.org/10.1002/pbc.23124 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005455111
446 rdf:type schema:CreativeWork
447 https://doi.org/10.1006/dbio.2002.0597 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014465698
448 rdf:type schema:CreativeWork
449 https://doi.org/10.1016/0092-8674(92)90166-a schema:sameAs https://app.dimensions.ai/details/publication/pub.1043312135
450 rdf:type schema:CreativeWork
451 https://doi.org/10.1016/j.ajhg.2012.05.006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014687232
452 rdf:type schema:CreativeWork
453 https://doi.org/10.1016/j.bmcl.2013.05.007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052040265
454 rdf:type schema:CreativeWork
455 https://doi.org/10.1016/j.cell.2009.08.041 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037293630
456 rdf:type schema:CreativeWork
457 https://doi.org/10.1016/j.cell.2017.04.001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084972993
458 rdf:type schema:CreativeWork
459 https://doi.org/10.1016/j.ydbio.2015.04.022 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025334750
460 rdf:type schema:CreativeWork
461 https://doi.org/10.1056/nejmoa1312890 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053743092
462 rdf:type schema:CreativeWork
463 https://doi.org/10.1096/fj.14-262782 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014484324
464 rdf:type schema:CreativeWork
465 https://doi.org/10.1097/00000421-198212000-00014 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045278392
466 rdf:type schema:CreativeWork
467 https://doi.org/10.1126/science.1715094 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062502504
468 rdf:type schema:CreativeWork
469 https://doi.org/10.1126/science.279.5351.710 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062559462
470 rdf:type schema:CreativeWork
471 https://doi.org/10.1126/scitranslmed.aad9982 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062689049
472 rdf:type schema:CreativeWork
473 https://doi.org/10.1128/mcb.16.8.4117 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038781953
474 rdf:type schema:CreativeWork
475 https://doi.org/10.1158/0008-5472.can-05-2925 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016365658
476 rdf:type schema:CreativeWork
477 https://doi.org/10.1158/1078-0432.ccr-16-0134 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017560001
478 rdf:type schema:CreativeWork
479 https://doi.org/10.1158/1535-7163.mct-13-0865 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009399453
480 rdf:type schema:CreativeWork
481 https://doi.org/10.1172/jci.insight.87623 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043794007
482 rdf:type schema:CreativeWork
483 https://doi.org/10.1590/s0036-36342002000400009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1068098489
484 rdf:type schema:CreativeWork
485 https://doi.org/10.3791/2033 schema:sameAs https://app.dimensions.ai/details/publication/pub.1071422452
486 rdf:type schema:CreativeWork
487 https://www.grid.ac/institutes/grid.10992.33 schema:alternateName Paris Descartes University
488 schema:name INSERM U1151, Institut Necker Enfants Malades, Paris, France
489 Laboratory EA 2496 Orofacial Pathologies, Imaging and Biotherapies, Montrouge, France
490 Université Paris Descartes, Sorbonne Paris Cité, Paris, France
491 rdf:type schema:Organization
492 https://www.grid.ac/institutes/grid.240741.4 schema:alternateName Seattle Children's Hospital
493 schema:name Department of Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA, USA
494 rdf:type schema:Organization
495 https://www.grid.ac/institutes/grid.412134.1 schema:alternateName Necker-Enfants Malades Hospital
496 schema:name Département de Radiologie Pédiatrique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
497 Département d’Anatomopathologie, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
498 INSERM U1151, Institut Necker Enfants Malades, Paris, France
499 Pharmacie, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
500 Service de Chirurgie Maxillo-faciale et Chirurgie Plastique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
501 Service de Chirurgie Viscérale Pédiatrique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
502 Service de Dermatologie Pédiatrique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
503 Service de Génétique Médicale, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
504 Service de Néphrologie Transplantation Adultes, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
505 Service d’Orthopédie Pédiatrique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
506 UMR-1163 Institut Imagine, Hôpital Necker-Enfants Malades, AP-HP, Paris, France
507 Université Paris Descartes, Sorbonne Paris Cité, Paris, France
508 rdf:type schema:Organization
509 https://www.grid.ac/institutes/grid.414103.3 schema:alternateName Hôpital Femme-Mère-Enfant
510 schema:name Service d’Imagerie Pédiatrique, Hôpital Femme-Mère-Enfant, Bron, France
511 rdf:type schema:Organization
512 https://www.grid.ac/institutes/grid.414221.0 schema:alternateName Hôpital Marie Lannelongue
513 schema:name Département de Médecine Nucléaire, Hôpital Marie Lannelongue, Le Plessis Robinsson, France
514 rdf:type schema:Organization
515 https://www.grid.ac/institutes/grid.42399.35 schema:alternateName Centre Hospitalier Universitaire de Bordeaux
516 schema:name Service d’Imagerie Diagnostique et Interventionnelle de l’Adulte, Centre Hospitalier Universitaire Pellegrin, Bordeaux, France
517 rdf:type schema:Organization
518 https://www.grid.ac/institutes/grid.4444.0 schema:alternateName French National Centre for Scientific Research
519 schema:name Service de Néphrologie, Transplantation, Dialyse, Aphérèses, Centre Hospitalier Universitaire Pellegrin, Bordeaux, France
520 UMR CNRS 5164, Immuno ConcEpT, CNRS, Bordeaux, France
521 rdf:type schema:Organization
522 https://www.grid.ac/institutes/grid.465541.7 schema:alternateName Institut Necker Enfants Malades
523 schema:name INSERM U1151, Institut Necker Enfants Malades, Paris, France
524 rdf:type schema:Organization
 




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


...