Pediatric Mastocytosis Is a Clonal Disease Associated with D816V and Other Activating c-KIT Mutations View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2010-03

AUTHORS

Christine Bodemer, Olivier Hermine, Fabienne Palmérini, Ying Yang, Catherine Grandpeix-Guyodo, Phillip S Leventhal, Smail Hadj-Rabia, Laurent Nasca, Sophie Georgin-Lavialle, Annick Cohen-Akenine, Jean-Marie Launay, Stéphane Barete, Frédéric Feger, Michel Arock, Benoît Catteau, Beatrix Sans, Jean François Stalder, Francois Skowron, Luc Thomas, Gérard Lorette, Patrice Plantin, Pierre Bordigoni, Olivier Lortholary, Yves de Prost, Alain Moussy, Hagay Sobol, Patrice Dubreuil

ABSTRACT

Adult mastocytosis is an incurable clonal disease associated with c-KIT mutations, mostly in exon 17 (D816V). In contrast, pediatric mastocytosis often spontaneously regresses and is considered a reactive disease. Previous studies on childhood mastocytosis assessed only a few patients and focused primarily on codon 816 mutations, with various results. In this study, we analyzed the entire c-KIT sequence from cutaneous biopsies of 50 children with mastocytosis (ages 0-16 years). A mutation of codon 816 (exon 17) was found in 42% of cases, and mutations outside exon 17 were observed in 44%. Unexpectedly, half of the mutations were located in the fifth Ig loop of c-KIT's extracellular domain, which is encoded by exons 8 and 9. All mutations identified in this study were somatic and caused a constitutive activation of c-KIT. There was no clear phenotype-genotype correlation, no clear relationship between the mutations and familial versus spontaneous disease, and no significant change in the relative expression of the c-KIT GNNK+ and GNNK isoforms. These findings strongly support the idea that, although pediatric mastocytosis can spontaneously regress, it is a clonal disease most commonly associated with activating mutations in c-KIT. More... »

PAGES

804-815

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jid.2009.281

DOI

http://dx.doi.org/10.1038/jid.2009.281

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1019775838

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/19865100


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": "Adolescent", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Age of Onset", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Animals", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Biopsy", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "COS Cells", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cercopithecus aethiops", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child, Preschool", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Clone Cells", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Exons", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genomics", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Infant", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Infant, Newborn", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mast Cells", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mastocytosis, Cutaneous", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Phenotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Point Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Proto-Oncogene Proteins c-kit", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Paris Descartes University", 
          "id": "https://www.grid.ac/institutes/grid.10992.33", 
          "name": [
            "Service de Dermatologie, H\u00f4pital Necker, Paris, France", 
            "CEREMAST, Centre de R\u00e9f\u00e9rence des Mastocytoses, Facult\u00e9 Necker, Paris, France", 
            "Universit\u00e9 Ren\u00e9 Descartes Paris V, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bodemer", 
        "givenName": "Christine", 
        "id": "sg:person.01307431726.54", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01307431726.54"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Necker-Enfants Malades Hospital", 
          "id": "https://www.grid.ac/institutes/grid.412134.1", 
          "name": [
            "CEREMAST, Centre de R\u00e9f\u00e9rence des Mastocytoses, Facult\u00e9 Necker, Paris, France", 
            "CNRS UMR 8147, H\u00f4pital Necker, Universit\u00e9 Paris V, Assistance Publique H\u00f4pitaux de Paris, Paris, France", 
            "Service d\u2019H\u00e9matologie Adulte, H\u00f4pital Necker, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hermine", 
        "givenName": "Olivier", 
        "id": "sg:person.01343737617.09", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01343737617.09"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Palm\u00e9rini", 
        "givenName": "Fabienne", 
        "id": "sg:person.01154376447.73", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01154376447.73"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre de Recherche en Canc\u00e9rologie de Marseille", 
          "id": "https://www.grid.ac/institutes/grid.463833.9", 
          "name": [
            "INSERM U891, Laboratoire d\u2019H\u00e9matopo\u00ef\u00e8se Mol\u00e9culaire et Fonctionnelle, Centre de Recherche en Canc\u00e9rologie de Marseille, Marseille, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Yang", 
        "givenName": "Ying", 
        "type": "Person"
      }, 
      {
        "familyName": "Grandpeix-Guyodo", 
        "givenName": "Catherine", 
        "id": "sg:person.01255260622.10", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01255260622.10"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Leventhal", 
        "givenName": "Phillip S", 
        "type": "Person"
      }, 
      {
        "familyName": "Hadj-Rabia", 
        "givenName": "Smail", 
        "id": "sg:person.0723765353.96", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0723765353.96"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre de Recherche en Canc\u00e9rologie de Marseille", 
          "id": "https://www.grid.ac/institutes/grid.463833.9", 
          "name": [
            "D\u00e9partement d\u2019Oncologie G\u00e9n\u00e9tique, Pr\u00e9vention et D\u00e9pistage, Institut Paoli Calmettes, Universit\u00e9 M\u00e9diterran\u00e9e, Marseille, France", 
            "INSERM U891, Laboratoire d\u2019H\u00e9matopo\u00ef\u00e8se Mol\u00e9culaire et Fonctionnelle, Centre de Recherche en Canc\u00e9rologie de Marseille, Marseille, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nasca", 
        "givenName": "Laurent", 
        "type": "Person"
      }, 
      {
        "familyName": "Georgin-Lavialle", 
        "givenName": "Sophie", 
        "id": "sg:person.0610631317.59", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0610631317.59"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "AFIRMM (Association Fran\u00e7aise pour les Initiatives de Recherche sur le Mastocyte et les Mastocytoses), Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cohen-Akenine", 
        "givenName": "Annick", 
        "id": "sg:person.01367240141.46", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01367240141.46"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Launay", 
        "givenName": "Jean-Marie", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Paris Descartes University", 
          "id": "https://www.grid.ac/institutes/grid.10992.33", 
          "name": [
            "CEREMAST, Centre de R\u00e9f\u00e9rence des Mastocytoses, Facult\u00e9 Necker, Paris, France", 
            "CNRS UMR 8147, H\u00f4pital Necker, Universit\u00e9 Paris V, Assistance Publique H\u00f4pitaux de Paris, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Barete", 
        "givenName": "St\u00e9phane", 
        "id": "sg:person.0617175247.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0617175247.25"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "CNRS UMR 8147, H\u00f4pital Necker, Universit\u00e9 Paris V, Assistance Publique H\u00f4pitaux de Paris, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Feger", 
        "givenName": "Fr\u00e9d\u00e9ric", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "CNRS UMR 8147, H\u00f4pital Necker, Universit\u00e9 Paris V, Assistance Publique H\u00f4pitaux de Paris, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Arock", 
        "givenName": "Michel", 
        "id": "sg:person.01062275377.97", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01062275377.97"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Catteau", 
        "givenName": "Beno\u00eet", 
        "type": "Person"
      }, 
      {
        "familyName": "Sans", 
        "givenName": "Beatrix", 
        "id": "sg:person.01357076021.30", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01357076021.30"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Stalder", 
        "givenName": "Jean Fran\u00e7ois", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre Hospitalier de Valence", 
          "id": "https://www.grid.ac/institutes/grid.440377.3", 
          "name": [
            "Service de Dermatologie, Centre Hospitalier de Valence, Valence, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Skowron", 
        "givenName": "Francois", 
        "id": "sg:person.01264506043.24", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01264506043.24"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4tel-Dieu de Lyon", 
          "id": "https://www.grid.ac/institutes/grid.413945.e", 
          "name": [
            "Service de Dermatologie, H\u00f4pital H\u00f4tel Dieu, Lyon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Thomas", 
        "givenName": "Luc", 
        "type": "Person"
      }, 
      {
        "familyName": "Lorette", 
        "givenName": "G\u00e9rard", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Laennec", 
          "id": "https://www.grid.ac/institutes/grid.414200.3", 
          "name": [
            "Service de Dermatologie, H\u00f4pital La\u00ebnnec, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Plantin", 
        "givenName": "Patrice", 
        "id": "sg:person.01011610150.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01011610150.22"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "D\u00e9partement d\u2019H\u00e9matologie\u2013Oncologie H\u00f4pitaux Brabois, Vandoeuvre, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bordigoni", 
        "givenName": "Pierre", 
        "type": "Person"
      }, 
      {
        "familyName": "Lortholary", 
        "givenName": "Olivier", 
        "type": "Person"
      }, 
      {
        "familyName": "de Prost", 
        "givenName": "Yves", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "AFIRMM (Association Fran\u00e7aise pour les Initiatives de Recherche sur le Mastocyte et les Mastocytoses), Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Moussy", 
        "givenName": "Alain", 
        "id": "sg:person.01161376017.34", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01161376017.34"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Aix-Marseille University", 
          "id": "https://www.grid.ac/institutes/grid.5399.6", 
          "name": [
            "D\u00e9partement d\u2019Oncologie G\u00e9n\u00e9tique, Pr\u00e9vention et D\u00e9pistage, Institut Paoli Calmettes, Universit\u00e9 M\u00e9diterran\u00e9e, Marseille, France", 
            "INSERM CIC-P 9502, Marseille, France", 
            "Universit\u00e9 d\u2019Aix-Marseille II, Marseille, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sobol", 
        "givenName": "Hagay", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Centre de Recherche en Canc\u00e9rologie de Marseille", 
          "id": "https://www.grid.ac/institutes/grid.463833.9", 
          "name": [
            "D\u00e9partement d\u2019Oncologie G\u00e9n\u00e9tique, Pr\u00e9vention et D\u00e9pistage, Institut Paoli Calmettes, Universit\u00e9 M\u00e9diterran\u00e9e, Marseille, France", 
            "INSERM U891, Laboratoire d\u2019H\u00e9matopo\u00ef\u00e8se Mol\u00e9culaire et Fonctionnelle, Centre de Recherche en Canc\u00e9rologie de Marseille, Marseille, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dubreuil", 
        "givenName": "Patrice", 
        "id": "sg:person.01275624417.35", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01275624417.35"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/s0002-9440(10)64946-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000731359"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.274.19.13399", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001221846"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.bbadis.2003.12.011", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001861035"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.m313381200", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004277370"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0145-2126(02)00168-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005299900"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng0396-312", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005847503", 
          "https://doi.org/10.1038/ng0396-312"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.onc.1202929", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006341638", 
          "https://doi.org/10.1038/sj.onc.1202929"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.onc.1202929", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006341638", 
          "https://doi.org/10.1038/sj.onc.1202929"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.96.4.1609", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006495168"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cell.2007.05.055", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006726356"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1182/blood-2002-02-0492", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006937015"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1046/j.1523-1747.1998.00414.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010825915", 
          "https://doi.org/10.1046/j.1523-1747.1998.00414.x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1046/j.1365-2141.2003.04575.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015778894"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.leukres.2005.08.015", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017194738"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1074/jbc.m403319200", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017400641"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1046/j.1523-1747.1999.00488.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021569674", 
          "https://doi.org/10.1046/j.1523-1747.1999.00488.x"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0190-9622(95)90336-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022184856"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1146/annurev.med.55.091902.103822", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022240053"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1468-3083.2004.00830.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022318274"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2003.015156", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022920585"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.leu.2402341", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023676804", 
          "https://doi.org/10.1038/sj.leu.2402341"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.leu.2402341", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023676804", 
          "https://doi.org/10.1038/sj.leu.2402341"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1182/asheducation-2004.1.146", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024558762"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1046/j.1365-2133.1999.02814.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1026969257"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1128/mcb.18.4.2089", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028627580"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1365-2133.2008.08827.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029310286"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s1525-1578(10)60552-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032240178"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00000441-198503000-00007", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033550292"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00000441-198503000-00007", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033550292"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.leu.2403870", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033700089", 
          "https://doi.org/10.1038/sj.leu.2403870"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.leu.2403870", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033700089", 
          "https://doi.org/10.1038/sj.leu.2403870"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.leu.2403870", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033700089", 
          "https://doi.org/10.1038/sj.leu.2403870"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1182/blood-2003-11-3816", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036160958"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1046/j.1365-2141.1999.01449.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037687547"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1053/j.gastro.2005.06.060", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042953043"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0145-2126(01)00028-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045455794"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000096907", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048339462"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.onc.1202939", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048561683", 
          "https://doi.org/10.1038/sj.onc.1202939"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.onc.1202939", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048561683", 
          "https://doi.org/10.1038/sj.onc.1202939"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/cyto.2001.0907", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052917001"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1079666", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062447255"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1200/jco.2003.04.190", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064203567"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1077055755", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/j.1460-2075.1987.tb02655.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1078849474"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/j.1460-2075.1988.tb02907.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1078871156"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1083095191", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1083134677", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2010-03", 
    "datePublishedReg": "2010-03-01", 
    "description": "Adult mastocytosis is an incurable clonal disease associated with c-KIT mutations, mostly in exon 17 (D816V). In contrast, pediatric mastocytosis often spontaneously regresses and is considered a reactive disease. Previous studies on childhood mastocytosis assessed only a few patients and focused primarily on codon 816 mutations, with various results. In this study, we analyzed the entire c-KIT sequence from cutaneous biopsies of 50 children with mastocytosis (ages 0-16 years). A mutation of codon 816 (exon 17) was found in 42% of cases, and mutations outside exon 17 were observed in 44%. Unexpectedly, half of the mutations were located in the fifth Ig loop of c-KIT's extracellular domain, which is encoded by exons 8 and 9. All mutations identified in this study were somatic and caused a constitutive activation of c-KIT. There was no clear phenotype-genotype correlation, no clear relationship between the mutations and familial versus spontaneous disease, and no significant change in the relative expression of the c-KIT GNNK+ and GNNK isoforms. These findings strongly support the idea that, although pediatric mastocytosis can spontaneously regress, it is a clonal disease most commonly associated with activating mutations in c-KIT.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/jid.2009.281", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1020153", 
        "issn": [
          "0022-202X", 
          "1523-1747"
        ], 
        "name": "Journal of Investigative Dermatology", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "3", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "130"
      }
    ], 
    "name": "Pediatric Mastocytosis Is a Clonal Disease Associated with D816V and Other Activating c-KIT Mutations", 
    "pagination": "804-815", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "5e3921c257763c7b03b852fd8154fdc9ee5a4209941ed343b545d6fb35003489"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "19865100"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "0426720"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/jid.2009.281"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1019775838"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/jid.2009.281", 
      "https://app.dimensions.ai/details/publication/pub.1019775838"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T12:58", 
    "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_8659_00000424.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/jid/journal/v130/n3/full/jid2009281a.html"
  }
]
 

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/jid.2009.281'

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/jid.2009.281'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/jid.2009.281'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/jid.2009.281'


 

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

477 TRIPLES      21 PREDICATES      92 URIs      43 LITERALS      31 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/jid.2009.281 schema:about N03237a7a865d4828a23f5bd780e36ec9
2 N2346f19a0f90407881183b1f57151ca1
3 N49abb3a8212d4721af8628bad71f723a
4 N526f40bd6b9e4624bded665a60dee370
5 N5886201ea7f740bdb63a3889fbc88ccc
6 N63b752c618e2475489fc417e48cfc812
7 N694abdeae9e44ce99b96782bdfd51c5b
8 N69bd47379a014c6ebd7186c117660449
9 N6d6b8c1362e84e5e8ddb94fe92c56293
10 N71892a066d29468181913b2c3ebe7e03
11 N730aabe299ec41a9b09770ea872eb9ed
12 N7eed8d320f0b4d67887a27cb0a380220
13 N85776b8404774d1dbdb30380f44c2bde
14 N8ab9b1e5a17e42449cbed7915e73ef37
15 N94a12747513e419d8f676c35bb52e0d9
16 Na64ddadc88ca4e569f26a1175fcab233
17 Na99614109dd442e0af48462cfdeeddce
18 Nb1caf729e9c84bf9b37735f7b94bdb3f
19 Nbc9dbeffe69f40ebb2d14e494d4b7497
20 Ncfac2bd51fe34abfb4598b1c1eed3182
21 Nf5cadeb0b2a94cbfa449a7b42cfda5da
22 Nf6f1bf160d774963b455c9e9092d034a
23 anzsrc-for:11
24 anzsrc-for:1102
25 schema:author Nf9578b5b486a40a9a798c316b822307c
26 schema:citation sg:pub.10.1038/ng0396-312
27 sg:pub.10.1038/sj.leu.2402341
28 sg:pub.10.1038/sj.leu.2403870
29 sg:pub.10.1038/sj.onc.1202929
30 sg:pub.10.1038/sj.onc.1202939
31 sg:pub.10.1046/j.1523-1747.1998.00414.x
32 sg:pub.10.1046/j.1523-1747.1999.00488.x
33 https://app.dimensions.ai/details/publication/pub.1077055755
34 https://app.dimensions.ai/details/publication/pub.1083095191
35 https://app.dimensions.ai/details/publication/pub.1083134677
36 https://doi.org/10.1002/j.1460-2075.1987.tb02655.x
37 https://doi.org/10.1002/j.1460-2075.1988.tb02907.x
38 https://doi.org/10.1006/cyto.2001.0907
39 https://doi.org/10.1016/0190-9622(95)90336-4
40 https://doi.org/10.1016/j.bbadis.2003.12.011
41 https://doi.org/10.1016/j.cell.2007.05.055
42 https://doi.org/10.1016/j.leukres.2005.08.015
43 https://doi.org/10.1016/s0002-9440(10)64946-2
44 https://doi.org/10.1016/s0145-2126(01)00028-5
45 https://doi.org/10.1016/s0145-2126(02)00168-6
46 https://doi.org/10.1016/s1525-1578(10)60552-1
47 https://doi.org/10.1046/j.1365-2133.1999.02814.x
48 https://doi.org/10.1046/j.1365-2141.1999.01449.x
49 https://doi.org/10.1046/j.1365-2141.2003.04575.x
50 https://doi.org/10.1053/j.gastro.2005.06.060
51 https://doi.org/10.1073/pnas.96.4.1609
52 https://doi.org/10.1074/jbc.274.19.13399
53 https://doi.org/10.1074/jbc.m313381200
54 https://doi.org/10.1074/jbc.m403319200
55 https://doi.org/10.1097/00000441-198503000-00007
56 https://doi.org/10.1111/j.1365-2133.2008.08827.x
57 https://doi.org/10.1111/j.1468-3083.2004.00830.x
58 https://doi.org/10.1126/science.1079666
59 https://doi.org/10.1128/mcb.18.4.2089
60 https://doi.org/10.1136/jmg.2003.015156
61 https://doi.org/10.1146/annurev.med.55.091902.103822
62 https://doi.org/10.1159/000096907
63 https://doi.org/10.1182/asheducation-2004.1.146
64 https://doi.org/10.1182/blood-2002-02-0492
65 https://doi.org/10.1182/blood-2003-11-3816
66 https://doi.org/10.1200/jco.2003.04.190
67 schema:datePublished 2010-03
68 schema:datePublishedReg 2010-03-01
69 schema:description Adult mastocytosis is an incurable clonal disease associated with c-KIT mutations, mostly in exon 17 (D816V). In contrast, pediatric mastocytosis often spontaneously regresses and is considered a reactive disease. Previous studies on childhood mastocytosis assessed only a few patients and focused primarily on codon 816 mutations, with various results. In this study, we analyzed the entire c-KIT sequence from cutaneous biopsies of 50 children with mastocytosis (ages 0-16 years). A mutation of codon 816 (exon 17) was found in 42% of cases, and mutations outside exon 17 were observed in 44%. Unexpectedly, half of the mutations were located in the fifth Ig loop of c-KIT's extracellular domain, which is encoded by exons 8 and 9. All mutations identified in this study were somatic and caused a constitutive activation of c-KIT. There was no clear phenotype-genotype correlation, no clear relationship between the mutations and familial versus spontaneous disease, and no significant change in the relative expression of the c-KIT GNNK+ and GNNK isoforms. These findings strongly support the idea that, although pediatric mastocytosis can spontaneously regress, it is a clonal disease most commonly associated with activating mutations in c-KIT.
70 schema:genre research_article
71 schema:inLanguage en
72 schema:isAccessibleForFree true
73 schema:isPartOf N4bb6a38c9cb44e8d986413a04a22ed41
74 Na5d12296aa10420db476be8f2e8a3dca
75 sg:journal.1020153
76 schema:name Pediatric Mastocytosis Is a Clonal Disease Associated with D816V and Other Activating c-KIT Mutations
77 schema:pagination 804-815
78 schema:productId N03a5d3b711314adfb15298b71b1df374
79 N2331820a6b254d68ae55d8b1dd049ee3
80 N8c57724b7d2344a1b96430d084c5fa08
81 Nd721eaaacef04482bd6141c3f4a1ccce
82 Ndaf6cc3babee42b1bdd3c363073a6ccc
83 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019775838
84 https://doi.org/10.1038/jid.2009.281
85 schema:sdDatePublished 2019-04-10T12:58
86 schema:sdLicense https://scigraph.springernature.com/explorer/license/
87 schema:sdPublisher N60e4e1926cfb408abe2a6c738d50399a
88 schema:url http://www.nature.com/jid/journal/v130/n3/full/jid2009281a.html
89 sgo:license sg:explorer/license/
90 sgo:sdDataset articles
91 rdf:type schema:ScholarlyArticle
92 N03237a7a865d4828a23f5bd780e36ec9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
93 schema:name Animals
94 rdf:type schema:DefinedTerm
95 N03a5d3b711314adfb15298b71b1df374 schema:name dimensions_id
96 schema:value pub.1019775838
97 rdf:type schema:PropertyValue
98 N097969f73ff14fb083e10fa6683579bd rdf:first sg:person.0610631317.59
99 rdf:rest N41eed420982346c48562d0e63198c6d0
100 N1428a2f33c2744ef978222545fee57b9 schema:name CNRS UMR 8147, Hôpital Necker, Université Paris V, Assistance Publique Hôpitaux de Paris, Paris, France
101 rdf:type schema:Organization
102 N188ad773baf94d309140df0fd0e4738c rdf:first N865516b4056449d297f3caeed296b1cc
103 rdf:rest Nbdaeb6edff6d4be388564608ead880ac
104 N1c8ddffd977946ab8219d528349efce9 rdf:first Nac7a0538cb124c22ad71aab5e6dcaa5b
105 rdf:rest N91fd28923e604a9ba59dbd7d0ccc7263
106 N2331820a6b254d68ae55d8b1dd049ee3 schema:name readcube_id
107 schema:value 5e3921c257763c7b03b852fd8154fdc9ee5a4209941ed343b545d6fb35003489
108 rdf:type schema:PropertyValue
109 N2346f19a0f90407881183b1f57151ca1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
110 schema:name Child, Preschool
111 rdf:type schema:DefinedTerm
112 N329f07fdeefb42a8925ce6eae4e4632f rdf:first Nc4f90d24576f49229b587a0905f68243
113 rdf:rest Naf7754583ca045d98fad8a0311b2d92a
114 N365c40448fb04ed6bc660cb7a56a2a25 rdf:first N53585478e47f4208bc664cdb5a10e9ab
115 rdf:rest Na1b3912d9f0c48a5856c883d0d16b63d
116 N41eed420982346c48562d0e63198c6d0 rdf:first sg:person.01367240141.46
117 rdf:rest N7961b51caa7b4874b9c847b7956d2dd9
118 N44f9b33ab0a74185b6d4ab7cfa8efcf7 schema:familyName Stalder
119 schema:givenName Jean François
120 rdf:type schema:Person
121 N476669201c91485a9f89b8861090e8a5 rdf:first sg:person.01343737617.09
122 rdf:rest N7c035037678645278ab1704d3defb5c9
123 N49abb3a8212d4721af8628bad71f723a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
124 schema:name Infant
125 rdf:type schema:DefinedTerm
126 N49f3e72af20c445d975f1374a4728952 schema:affiliation https://www.grid.ac/institutes/grid.413945.e
127 schema:familyName Thomas
128 schema:givenName Luc
129 rdf:type schema:Person
130 N4bb6a38c9cb44e8d986413a04a22ed41 schema:issueNumber 3
131 rdf:type schema:PublicationIssue
132 N526a07e6849649ee95503e5412daa0b4 rdf:first Ne42b9d09f7f4467ead33ff9391b52b29
133 rdf:rest N8832a5a929294ca5b969f3909cf23b75
134 N526f40bd6b9e4624bded665a60dee370 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
135 schema:name Proto-Oncogene Proteins c-kit
136 rdf:type schema:DefinedTerm
137 N53585478e47f4208bc664cdb5a10e9ab schema:affiliation Ne178934cf6174d8d8266747fcfd5ae15
138 schema:familyName Bordigoni
139 schema:givenName Pierre
140 rdf:type schema:Person
141 N55f857d785164e1685fdfd133657984f rdf:first N49f3e72af20c445d975f1374a4728952
142 rdf:rest N188ad773baf94d309140df0fd0e4738c
143 N5886201ea7f740bdb63a3889fbc88ccc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
144 schema:name Male
145 rdf:type schema:DefinedTerm
146 N60e4e1926cfb408abe2a6c738d50399a schema:name Springer Nature - SN SciGraph project
147 rdf:type schema:Organization
148 N63b752c618e2475489fc417e48cfc812 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
149 schema:name Mast Cells
150 rdf:type schema:DefinedTerm
151 N63b9d40c70494d51964de094a7e5700d schema:affiliation https://www.grid.ac/institutes/grid.463833.9
152 schema:familyName Nasca
153 schema:givenName Laurent
154 rdf:type schema:Person
155 N694abdeae9e44ce99b96782bdfd51c5b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
156 schema:name Child
157 rdf:type schema:DefinedTerm
158 N69bd47379a014c6ebd7186c117660449 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
159 schema:name Adolescent
160 rdf:type schema:DefinedTerm
161 N6d6b8c1362e84e5e8ddb94fe92c56293 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
162 schema:name Female
163 rdf:type schema:DefinedTerm
164 N6e5a2003c273467b9bcbaff3b5df4bcc schema:name AFIRMM (Association Française pour les Initiatives de Recherche sur le Mastocyte et les Mastocytoses), Paris, France
165 rdf:type schema:Organization
166 N71892a066d29468181913b2c3ebe7e03 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
167 schema:name Genomics
168 rdf:type schema:DefinedTerm
169 N730aabe299ec41a9b09770ea872eb9ed schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
170 schema:name Mastocytosis, Cutaneous
171 rdf:type schema:DefinedTerm
172 N7484ad7deb2145dd8d7aca259d2adcb8 schema:familyName Lortholary
173 schema:givenName Olivier
174 rdf:type schema:Person
175 N7961b51caa7b4874b9c847b7956d2dd9 rdf:first Nba9e239681074db18284e84c01cf2633
176 rdf:rest N7e6cf483816e455abf1fe9bc1f7470b4
177 N7b5912791c3f4f2387771dbdd6124a65 rdf:first sg:person.01255260622.10
178 rdf:rest N526a07e6849649ee95503e5412daa0b4
179 N7c035037678645278ab1704d3defb5c9 rdf:first sg:person.01154376447.73
180 rdf:rest Nfdbd2431cd114dc48582955ad1581450
181 N7e6cf483816e455abf1fe9bc1f7470b4 rdf:first sg:person.0617175247.25
182 rdf:rest N329f07fdeefb42a8925ce6eae4e4632f
183 N7eed8d320f0b4d67887a27cb0a380220 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
184 schema:name COS Cells
185 rdf:type schema:DefinedTerm
186 N85776b8404774d1dbdb30380f44c2bde schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
187 schema:name Genotype
188 rdf:type schema:DefinedTerm
189 N865516b4056449d297f3caeed296b1cc schema:familyName Lorette
190 schema:givenName Gérard
191 rdf:type schema:Person
192 N8832a5a929294ca5b969f3909cf23b75 rdf:first sg:person.0723765353.96
193 rdf:rest Ne503af7ebd5b4e8ca4de51fb119e9d04
194 N8986d17a14eb40fbac1d3254699aaa47 schema:name CNRS UMR 8147, Hôpital Necker, Université Paris V, Assistance Publique Hôpitaux de Paris, Paris, France
195 rdf:type schema:Organization
196 N8ab9b1e5a17e42449cbed7915e73ef37 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
197 schema:name Age of Onset
198 rdf:type schema:DefinedTerm
199 N8c57724b7d2344a1b96430d084c5fa08 schema:name doi
200 schema:value 10.1038/jid.2009.281
201 rdf:type schema:PropertyValue
202 N8dc87c0888ad47bd8fbcfe2c71f211c3 rdf:first sg:person.01275624417.35
203 rdf:rest rdf:nil
204 N8ecbdf17f36e4271b1dc214bf0d2afd0 rdf:first Nd05969009ab54cfbb7d294b84963de80
205 rdf:rest N8dc87c0888ad47bd8fbcfe2c71f211c3
206 N91fd28923e604a9ba59dbd7d0ccc7263 rdf:first sg:person.01161376017.34
207 rdf:rest N8ecbdf17f36e4271b1dc214bf0d2afd0
208 N94a12747513e419d8f676c35bb52e0d9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
209 schema:name Clone Cells
210 rdf:type schema:DefinedTerm
211 N9ac10e2b657e479480bb074ca3b2b63f rdf:first Nf66b0765fadd4c408a23f4f308d0f991
212 rdf:rest Nd76ed80826ba4d0682e3b2ce580e9e51
213 Na1b3912d9f0c48a5856c883d0d16b63d rdf:first N7484ad7deb2145dd8d7aca259d2adcb8
214 rdf:rest N1c8ddffd977946ab8219d528349efce9
215 Na5d12296aa10420db476be8f2e8a3dca schema:volumeNumber 130
216 rdf:type schema:PublicationVolume
217 Na64ddadc88ca4e569f26a1175fcab233 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
218 schema:name Cercopithecus aethiops
219 rdf:type schema:DefinedTerm
220 Na68a4baaf27744c4b31675fcb5cd82e6 schema:affiliation https://www.grid.ac/institutes/grid.463833.9
221 schema:familyName Yang
222 schema:givenName Ying
223 rdf:type schema:Person
224 Na99614109dd442e0af48462cfdeeddce schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
225 schema:name Biopsy
226 rdf:type schema:DefinedTerm
227 Nac7a0538cb124c22ad71aab5e6dcaa5b schema:familyName de Prost
228 schema:givenName Yves
229 rdf:type schema:Person
230 Naf7754583ca045d98fad8a0311b2d92a rdf:first sg:person.01062275377.97
231 rdf:rest N9ac10e2b657e479480bb074ca3b2b63f
232 Nb1caf729e9c84bf9b37735f7b94bdb3f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
233 schema:name Infant, Newborn
234 rdf:type schema:DefinedTerm
235 Nb3af8a055e364d0e8a7607852e06ea75 rdf:first N44f9b33ab0a74185b6d4ab7cfa8efcf7
236 rdf:rest Nfaa26659b1bc44618ad5c0241038e31d
237 Nba9e239681074db18284e84c01cf2633 schema:familyName Launay
238 schema:givenName Jean-Marie
239 rdf:type schema:Person
240 Nbc9dbeffe69f40ebb2d14e494d4b7497 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
241 schema:name Humans
242 rdf:type schema:DefinedTerm
243 Nbdaeb6edff6d4be388564608ead880ac rdf:first sg:person.01011610150.22
244 rdf:rest N365c40448fb04ed6bc660cb7a56a2a25
245 Nc4f90d24576f49229b587a0905f68243 schema:affiliation N1428a2f33c2744ef978222545fee57b9
246 schema:familyName Feger
247 schema:givenName Frédéric
248 rdf:type schema:Person
249 Ncfac2bd51fe34abfb4598b1c1eed3182 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
250 schema:name Phenotype
251 rdf:type schema:DefinedTerm
252 Nd05969009ab54cfbb7d294b84963de80 schema:affiliation https://www.grid.ac/institutes/grid.5399.6
253 schema:familyName Sobol
254 schema:givenName Hagay
255 rdf:type schema:Person
256 Nd721eaaacef04482bd6141c3f4a1ccce schema:name nlm_unique_id
257 schema:value 0426720
258 rdf:type schema:PropertyValue
259 Nd76ed80826ba4d0682e3b2ce580e9e51 rdf:first sg:person.01357076021.30
260 rdf:rest Nb3af8a055e364d0e8a7607852e06ea75
261 Ndaf6cc3babee42b1bdd3c363073a6ccc schema:name pubmed_id
262 schema:value 19865100
263 rdf:type schema:PropertyValue
264 Ne178934cf6174d8d8266747fcfd5ae15 schema:name Département d’Hématologie–Oncologie Hôpitaux Brabois, Vandoeuvre, France
265 rdf:type schema:Organization
266 Ne42b9d09f7f4467ead33ff9391b52b29 schema:familyName Leventhal
267 schema:givenName Phillip S
268 rdf:type schema:Person
269 Ne503af7ebd5b4e8ca4de51fb119e9d04 rdf:first N63b9d40c70494d51964de094a7e5700d
270 rdf:rest N097969f73ff14fb083e10fa6683579bd
271 Nf5cadeb0b2a94cbfa449a7b42cfda5da schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
272 schema:name Point Mutation
273 rdf:type schema:DefinedTerm
274 Nf66b0765fadd4c408a23f4f308d0f991 schema:familyName Catteau
275 schema:givenName Benoît
276 rdf:type schema:Person
277 Nf6f1bf160d774963b455c9e9092d034a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
278 schema:name Exons
279 rdf:type schema:DefinedTerm
280 Nf8e278f59dd74950a03c279d5f27c144 schema:name AFIRMM (Association Française pour les Initiatives de Recherche sur le Mastocyte et les Mastocytoses), Paris, France
281 rdf:type schema:Organization
282 Nf9578b5b486a40a9a798c316b822307c rdf:first sg:person.01307431726.54
283 rdf:rest N476669201c91485a9f89b8861090e8a5
284 Nfaa26659b1bc44618ad5c0241038e31d rdf:first sg:person.01264506043.24
285 rdf:rest N55f857d785164e1685fdfd133657984f
286 Nfdbd2431cd114dc48582955ad1581450 rdf:first Na68a4baaf27744c4b31675fcb5cd82e6
287 rdf:rest N7b5912791c3f4f2387771dbdd6124a65
288 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
289 schema:name Medical and Health Sciences
290 rdf:type schema:DefinedTerm
291 anzsrc-for:1102 schema:inDefinedTermSet anzsrc-for:
292 schema:name Cardiorespiratory Medicine and Haematology
293 rdf:type schema:DefinedTerm
294 sg:journal.1020153 schema:issn 0022-202X
295 1523-1747
296 schema:name Journal of Investigative Dermatology
297 rdf:type schema:Periodical
298 sg:person.01011610150.22 schema:affiliation https://www.grid.ac/institutes/grid.414200.3
299 schema:familyName Plantin
300 schema:givenName Patrice
301 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01011610150.22
302 rdf:type schema:Person
303 sg:person.01062275377.97 schema:affiliation N8986d17a14eb40fbac1d3254699aaa47
304 schema:familyName Arock
305 schema:givenName Michel
306 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01062275377.97
307 rdf:type schema:Person
308 sg:person.01154376447.73 schema:familyName Palmérini
309 schema:givenName Fabienne
310 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01154376447.73
311 rdf:type schema:Person
312 sg:person.01161376017.34 schema:affiliation Nf8e278f59dd74950a03c279d5f27c144
313 schema:familyName Moussy
314 schema:givenName Alain
315 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01161376017.34
316 rdf:type schema:Person
317 sg:person.01255260622.10 schema:familyName Grandpeix-Guyodo
318 schema:givenName Catherine
319 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01255260622.10
320 rdf:type schema:Person
321 sg:person.01264506043.24 schema:affiliation https://www.grid.ac/institutes/grid.440377.3
322 schema:familyName Skowron
323 schema:givenName Francois
324 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01264506043.24
325 rdf:type schema:Person
326 sg:person.01275624417.35 schema:affiliation https://www.grid.ac/institutes/grid.463833.9
327 schema:familyName Dubreuil
328 schema:givenName Patrice
329 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01275624417.35
330 rdf:type schema:Person
331 sg:person.01307431726.54 schema:affiliation https://www.grid.ac/institutes/grid.10992.33
332 schema:familyName Bodemer
333 schema:givenName Christine
334 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01307431726.54
335 rdf:type schema:Person
336 sg:person.01343737617.09 schema:affiliation https://www.grid.ac/institutes/grid.412134.1
337 schema:familyName Hermine
338 schema:givenName Olivier
339 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01343737617.09
340 rdf:type schema:Person
341 sg:person.01357076021.30 schema:familyName Sans
342 schema:givenName Beatrix
343 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01357076021.30
344 rdf:type schema:Person
345 sg:person.01367240141.46 schema:affiliation N6e5a2003c273467b9bcbaff3b5df4bcc
346 schema:familyName Cohen-Akenine
347 schema:givenName Annick
348 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01367240141.46
349 rdf:type schema:Person
350 sg:person.0610631317.59 schema:familyName Georgin-Lavialle
351 schema:givenName Sophie
352 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0610631317.59
353 rdf:type schema:Person
354 sg:person.0617175247.25 schema:affiliation https://www.grid.ac/institutes/grid.10992.33
355 schema:familyName Barete
356 schema:givenName Stéphane
357 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0617175247.25
358 rdf:type schema:Person
359 sg:person.0723765353.96 schema:familyName Hadj-Rabia
360 schema:givenName Smail
361 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0723765353.96
362 rdf:type schema:Person
363 sg:pub.10.1038/ng0396-312 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005847503
364 https://doi.org/10.1038/ng0396-312
365 rdf:type schema:CreativeWork
366 sg:pub.10.1038/sj.leu.2402341 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023676804
367 https://doi.org/10.1038/sj.leu.2402341
368 rdf:type schema:CreativeWork
369 sg:pub.10.1038/sj.leu.2403870 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033700089
370 https://doi.org/10.1038/sj.leu.2403870
371 rdf:type schema:CreativeWork
372 sg:pub.10.1038/sj.onc.1202929 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006341638
373 https://doi.org/10.1038/sj.onc.1202929
374 rdf:type schema:CreativeWork
375 sg:pub.10.1038/sj.onc.1202939 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048561683
376 https://doi.org/10.1038/sj.onc.1202939
377 rdf:type schema:CreativeWork
378 sg:pub.10.1046/j.1523-1747.1998.00414.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1010825915
379 https://doi.org/10.1046/j.1523-1747.1998.00414.x
380 rdf:type schema:CreativeWork
381 sg:pub.10.1046/j.1523-1747.1999.00488.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1021569674
382 https://doi.org/10.1046/j.1523-1747.1999.00488.x
383 rdf:type schema:CreativeWork
384 https://app.dimensions.ai/details/publication/pub.1077055755 schema:CreativeWork
385 https://app.dimensions.ai/details/publication/pub.1083095191 schema:CreativeWork
386 https://app.dimensions.ai/details/publication/pub.1083134677 schema:CreativeWork
387 https://doi.org/10.1002/j.1460-2075.1987.tb02655.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1078849474
388 rdf:type schema:CreativeWork
389 https://doi.org/10.1002/j.1460-2075.1988.tb02907.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1078871156
390 rdf:type schema:CreativeWork
391 https://doi.org/10.1006/cyto.2001.0907 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052917001
392 rdf:type schema:CreativeWork
393 https://doi.org/10.1016/0190-9622(95)90336-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022184856
394 rdf:type schema:CreativeWork
395 https://doi.org/10.1016/j.bbadis.2003.12.011 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001861035
396 rdf:type schema:CreativeWork
397 https://doi.org/10.1016/j.cell.2007.05.055 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006726356
398 rdf:type schema:CreativeWork
399 https://doi.org/10.1016/j.leukres.2005.08.015 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017194738
400 rdf:type schema:CreativeWork
401 https://doi.org/10.1016/s0002-9440(10)64946-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000731359
402 rdf:type schema:CreativeWork
403 https://doi.org/10.1016/s0145-2126(01)00028-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045455794
404 rdf:type schema:CreativeWork
405 https://doi.org/10.1016/s0145-2126(02)00168-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005299900
406 rdf:type schema:CreativeWork
407 https://doi.org/10.1016/s1525-1578(10)60552-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032240178
408 rdf:type schema:CreativeWork
409 https://doi.org/10.1046/j.1365-2133.1999.02814.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1026969257
410 rdf:type schema:CreativeWork
411 https://doi.org/10.1046/j.1365-2141.1999.01449.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1037687547
412 rdf:type schema:CreativeWork
413 https://doi.org/10.1046/j.1365-2141.2003.04575.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1015778894
414 rdf:type schema:CreativeWork
415 https://doi.org/10.1053/j.gastro.2005.06.060 schema:sameAs https://app.dimensions.ai/details/publication/pub.1042953043
416 rdf:type schema:CreativeWork
417 https://doi.org/10.1073/pnas.96.4.1609 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006495168
418 rdf:type schema:CreativeWork
419 https://doi.org/10.1074/jbc.274.19.13399 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001221846
420 rdf:type schema:CreativeWork
421 https://doi.org/10.1074/jbc.m313381200 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004277370
422 rdf:type schema:CreativeWork
423 https://doi.org/10.1074/jbc.m403319200 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017400641
424 rdf:type schema:CreativeWork
425 https://doi.org/10.1097/00000441-198503000-00007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033550292
426 rdf:type schema:CreativeWork
427 https://doi.org/10.1111/j.1365-2133.2008.08827.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1029310286
428 rdf:type schema:CreativeWork
429 https://doi.org/10.1111/j.1468-3083.2004.00830.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1022318274
430 rdf:type schema:CreativeWork
431 https://doi.org/10.1126/science.1079666 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062447255
432 rdf:type schema:CreativeWork
433 https://doi.org/10.1128/mcb.18.4.2089 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028627580
434 rdf:type schema:CreativeWork
435 https://doi.org/10.1136/jmg.2003.015156 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022920585
436 rdf:type schema:CreativeWork
437 https://doi.org/10.1146/annurev.med.55.091902.103822 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022240053
438 rdf:type schema:CreativeWork
439 https://doi.org/10.1159/000096907 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048339462
440 rdf:type schema:CreativeWork
441 https://doi.org/10.1182/asheducation-2004.1.146 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024558762
442 rdf:type schema:CreativeWork
443 https://doi.org/10.1182/blood-2002-02-0492 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006937015
444 rdf:type schema:CreativeWork
445 https://doi.org/10.1182/blood-2003-11-3816 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036160958
446 rdf:type schema:CreativeWork
447 https://doi.org/10.1200/jco.2003.04.190 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064203567
448 rdf:type schema:CreativeWork
449 https://www.grid.ac/institutes/grid.10992.33 schema:alternateName Paris Descartes University
450 schema:name CEREMAST, Centre de Référence des Mastocytoses, Faculté Necker, Paris, France
451 CNRS UMR 8147, Hôpital Necker, Université Paris V, Assistance Publique Hôpitaux de Paris, Paris, France
452 Service de Dermatologie, Hôpital Necker, Paris, France
453 Université René Descartes Paris V, Paris, France
454 rdf:type schema:Organization
455 https://www.grid.ac/institutes/grid.412134.1 schema:alternateName Necker-Enfants Malades Hospital
456 schema:name CEREMAST, Centre de Référence des Mastocytoses, Faculté Necker, Paris, France
457 CNRS UMR 8147, Hôpital Necker, Université Paris V, Assistance Publique Hôpitaux de Paris, Paris, France
458 Service d’Hématologie Adulte, Hôpital Necker, Paris, France
459 rdf:type schema:Organization
460 https://www.grid.ac/institutes/grid.413945.e schema:alternateName Hôtel-Dieu de Lyon
461 schema:name Service de Dermatologie, Hôpital Hôtel Dieu, Lyon, France
462 rdf:type schema:Organization
463 https://www.grid.ac/institutes/grid.414200.3 schema:alternateName Hôpital Laennec
464 schema:name Service de Dermatologie, Hôpital Laënnec, Paris, France
465 rdf:type schema:Organization
466 https://www.grid.ac/institutes/grid.440377.3 schema:alternateName Centre Hospitalier de Valence
467 schema:name Service de Dermatologie, Centre Hospitalier de Valence, Valence, France
468 rdf:type schema:Organization
469 https://www.grid.ac/institutes/grid.463833.9 schema:alternateName Centre de Recherche en Cancérologie de Marseille
470 schema:name Département d’Oncologie Génétique, Prévention et Dépistage, Institut Paoli Calmettes, Université Méditerranée, Marseille, France
471 INSERM U891, Laboratoire d’Hématopoïèse Moléculaire et Fonctionnelle, Centre de Recherche en Cancérologie de Marseille, Marseille, France
472 rdf:type schema:Organization
473 https://www.grid.ac/institutes/grid.5399.6 schema:alternateName Aix-Marseille University
474 schema:name Département d’Oncologie Génétique, Prévention et Dépistage, Institut Paoli Calmettes, Université Méditerranée, Marseille, France
475 INSERM CIC-P 9502, Marseille, France
476 Université d’Aix-Marseille II, Marseille, France
477 rdf:type schema:Organization
 




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


...