Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2007-02

AUTHORS

Sarah Reid, Detlev Schindler, Helmut Hanenberg, Karen Barker, Sandra Hanks, Reinhard Kalb, Kornelia Neveling, Patrick Kelly, Sheila Seal, Marcel Freund, Melanie Wurm, Sat Dev Batish, Francis P Lach, Sevgi Yetgin, Heidemarie Neitzel, Hany Ariffin, Marc Tischkowitz, Christopher G Mathew, Arleen D Auerbach, Nazneen Rahman

ABSTRACT

PALB2 was recently identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and predispose to childhood malignancies. We identified pathogenic mutations in PALB2 (also known as FANCN) in seven families affected with Fanconi anemia and cancer in early childhood, demonstrating that biallelic PALB2 mutations cause a new subtype of Fanconi anemia, FA-N, and, similar to biallelic BRCA2 mutations, confer a high risk of childhood cancer. More... »

PAGES

162-164

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1947

DOI

http://dx.doi.org/10.1038/ng1947

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1030963670

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/17200671


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/2008/1112", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Oncology and Carcinogenesis", 
        "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": "Alleles", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Breast Neoplasms", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child, Preschool", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Fanconi Anemia", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Fanconi Anemia Complementation Group N Protein", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Fanconi Anemia Complementation Group Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Predisposition to Disease", 
        "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": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Nuclear Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Tumor Suppressor Proteins", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Institute of Cancer Research", 
          "id": "https://www.grid.ac/institutes/grid.18886.3f", 
          "name": [
            "Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Reid", 
        "givenName": "Sarah", 
        "id": "sg:person.01357730116.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01357730116.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of W\u00fcrzburg", 
          "id": "https://www.grid.ac/institutes/grid.8379.5", 
          "name": [
            "Department of Human Genetics, University of Wuerzburg, D-97074 Wuerzburg, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Schindler", 
        "givenName": "Detlev", 
        "id": "sg:person.01312711421.50", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01312711421.50"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Indiana University \u2013 Purdue University Indianapolis", 
          "id": "https://www.grid.ac/institutes/grid.257413.6", 
          "name": [
            "Department of Pediatric Oncology, Hematology and Immunology, Heinrich Heine University, D-40225 Duesseldorf, Germany.", 
            "Herman B. Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hanenberg", 
        "givenName": "Helmut", 
        "id": "sg:person.01001643175.87", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01001643175.87"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institute of Cancer Research", 
          "id": "https://www.grid.ac/institutes/grid.18886.3f", 
          "name": [
            "Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Barker", 
        "givenName": "Karen", 
        "id": "sg:person.01260474362.15", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01260474362.15"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institute of Cancer Research", 
          "id": "https://www.grid.ac/institutes/grid.18886.3f", 
          "name": [
            "Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hanks", 
        "givenName": "Sandra", 
        "id": "sg:person.0643162420.10", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0643162420.10"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of W\u00fcrzburg", 
          "id": "https://www.grid.ac/institutes/grid.8379.5", 
          "name": [
            "Department of Human Genetics, University of Wuerzburg, D-97074 Wuerzburg, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kalb", 
        "givenName": "Reinhard", 
        "id": "sg:person.01144727033.66", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01144727033.66"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of W\u00fcrzburg", 
          "id": "https://www.grid.ac/institutes/grid.8379.5", 
          "name": [
            "Department of Human Genetics, University of Wuerzburg, D-97074 Wuerzburg, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Neveling", 
        "givenName": "Kornelia", 
        "id": "sg:person.01253132563.17", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01253132563.17"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institute of Cancer Research", 
          "id": "https://www.grid.ac/institutes/grid.18886.3f", 
          "name": [
            "Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kelly", 
        "givenName": "Patrick", 
        "id": "sg:person.014600201002.38", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014600201002.38"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institute of Cancer Research", 
          "id": "https://www.grid.ac/institutes/grid.18886.3f", 
          "name": [
            "Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Seal", 
        "givenName": "Sheila", 
        "id": "sg:person.01315221535.21", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01315221535.21"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Heinrich Heine University D\u00fcsseldorf", 
          "id": "https://www.grid.ac/institutes/grid.411327.2", 
          "name": [
            "Department of Pediatric Oncology, Hematology and Immunology, Heinrich Heine University, D-40225 Duesseldorf, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Freund", 
        "givenName": "Marcel", 
        "id": "sg:person.01125711731.32", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01125711731.32"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Heinrich Heine University D\u00fcsseldorf", 
          "id": "https://www.grid.ac/institutes/grid.411327.2", 
          "name": [
            "Department of Pediatric Oncology, Hematology and Immunology, Heinrich Heine University, D-40225 Duesseldorf, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wurm", 
        "givenName": "Melanie", 
        "id": "sg:person.01306130465.44", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01306130465.44"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Cornell University", 
          "id": "https://www.grid.ac/institutes/grid.5386.8", 
          "name": [
            "Laboratory of Human Genetics and Hematology, The Rockefeller University, 1230 York Ave., New York, New York 10021, USA.", 
            "Department of Pathology and Laboratory Medicine, Weill Medical College of Cornell University, New York, New York 10021, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Batish", 
        "givenName": "Sat Dev", 
        "id": "sg:person.0742217131.91", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0742217131.91"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Rockefeller University", 
          "id": "https://www.grid.ac/institutes/grid.134907.8", 
          "name": [
            "Laboratory of Human Genetics and Hematology, The Rockefeller University, 1230 York Ave., New York, New York 10021, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lach", 
        "givenName": "Francis P", 
        "id": "sg:person.01236607242.26", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01236607242.26"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Hacettepe University", 
          "id": "https://www.grid.ac/institutes/grid.14442.37", 
          "name": [
            "Hacettepe University, Ihsan Dooramacy Children Hospital, Division of Pediatric Hematology, 06100 Ankara, Turkey."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Yetgin", 
        "givenName": "Sevgi", 
        "id": "sg:person.0662030052.99", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0662030052.99"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Charit\u00e9", 
          "id": "https://www.grid.ac/institutes/grid.6363.0", 
          "name": [
            "Department of Human Genetics Charit\u00e9-Universitaetsmedizin, D-13353 Berlin, Germany."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Neitzel", 
        "givenName": "Heidemarie", 
        "id": "sg:person.01246312345.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01246312345.48"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University Malaya Medical Centre", 
          "id": "https://www.grid.ac/institutes/grid.413018.f", 
          "name": [
            "Paediatric Haematology-Oncology Unit, University of Malaya Medical Centre, Kuala Lumpur, Malaysia."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ariffin", 
        "givenName": "Hany", 
        "id": "sg:person.01126321006.72", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01126321006.72"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "McGill University", 
          "id": "https://www.grid.ac/institutes/grid.14709.3b", 
          "name": [
            "Cancer Prevention Center, The Sir Mortimer B. Davis Jewish General Hospital, Montreal, Quebec H3T 1E2, Canada.", 
            "Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec H3A 1B1, Canada."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tischkowitz", 
        "givenName": "Marc", 
        "id": "sg:person.01331505626.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01331505626.25"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "King's College London", 
          "id": "https://www.grid.ac/institutes/grid.13097.3c", 
          "name": [
            "Kings College London School of Medicine, Department of Medical and Molecular Genetics, Guy's Hospital, London SE1 9RT, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mathew", 
        "givenName": "Christopher G", 
        "id": "sg:person.01313422073.62", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313422073.62"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Rockefeller University", 
          "id": "https://www.grid.ac/institutes/grid.134907.8", 
          "name": [
            "Laboratory of Human Genetics and Hematology, The Rockefeller University, 1230 York Ave., New York, New York 10021, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Auerbach", 
        "givenName": "Arleen D", 
        "id": "sg:person.01047023037.91", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01047023037.91"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institute of Cancer Research", 
          "id": "https://www.grid.ac/institutes/grid.18886.3f", 
          "name": [
            "Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rahman", 
        "givenName": "Nazneen", 
        "id": "sg:person.01056542504.81", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01056542504.81"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1182/blood-2003-09-3138", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000725928"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.molcel.2006.05.022", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007379344"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1073834", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010676859"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.mrfmmm.2005.07.008", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012773818"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1182/blood-2002-07-2170", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014649497"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/jnci/djg072", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014728718"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.cell.2005.12.009", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017919985"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymthe.2005.04.021", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019708002"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ymthe.2005.04.021", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019708002"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1182/blood-2003-06-1970", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033977075"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ceb.2005.03.002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037656531"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1182/blood-2005-10-4240", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047124119"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.2004.022673", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048794715"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.dnarep.2004.03.008", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052697353"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1079493677", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2007-02", 
    "datePublishedReg": "2007-02-01", 
    "description": "PALB2 was recently identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and predispose to childhood malignancies. We identified pathogenic mutations in PALB2 (also known as FANCN) in seven families affected with Fanconi anemia and cancer in early childhood, demonstrating that biallelic PALB2 mutations cause a new subtype of Fanconi anemia, FA-N, and, similar to biallelic BRCA2 mutations, confer a high risk of childhood cancer.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/ng1947", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.3635287", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2635684", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2474422", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2786745", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1103138", 
        "issn": [
          "1061-4036", 
          "1546-1718"
        ], 
        "name": "Nature Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "2", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "39"
      }
    ], 
    "name": "Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer", 
    "pagination": "162-164", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "938251ff53cfa681d4ce1950353a396eeb0b33b47c47a3d76fdaff4f67ccd848"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "17200671"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9216904"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ng1947"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1030963670"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ng1947", 
      "https://app.dimensions.ai/details/publication/pub.1030963670"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T12:15", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000361_0000000361/records_54014_00000000.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/articles/ng1947"
  }
]
 

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/ng1947'

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/ng1947'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng1947'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng1947'


 

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

332 TRIPLES      21 PREDICATES      55 URIs      33 LITERALS      21 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ng1947 schema:about N07ed8ed1fbd94f91ae240a8dfcb7aa25
2 N1964e11f74d4494285ca8baa12e7575b
3 N2d50c91a04ce430387ab0ff7608bf559
4 N3f6e39016bb44d538fe17ec1f0a4d29c
5 N49b8d4dfde984127826d7b4bc8077422
6 N541894a6794142dfa4f0154b605cd2cd
7 N76cadabd358b48a38e35825413d3d6ef
8 N7fbed49a3fae4717bbf70224057c9729
9 N9e9edd655d024e66b5996356862cef30
10 Ne204076fe9ca4c668dfd78e1e580e102
11 Ne557191909fd4b28817df3ce308c60c8
12 Necf2171146de43849236a698b107185c
13 anzsrc-for:11
14 anzsrc-for:1112
15 schema:author N145cbd365f724c418f217e58eabbc712
16 schema:citation https://app.dimensions.ai/details/publication/pub.1079493677
17 https://doi.org/10.1016/j.ceb.2005.03.002
18 https://doi.org/10.1016/j.cell.2005.12.009
19 https://doi.org/10.1016/j.dnarep.2004.03.008
20 https://doi.org/10.1016/j.molcel.2006.05.022
21 https://doi.org/10.1016/j.mrfmmm.2005.07.008
22 https://doi.org/10.1016/j.ymthe.2005.04.021
23 https://doi.org/10.1093/jnci/djg072
24 https://doi.org/10.1126/science.1073834
25 https://doi.org/10.1136/jmg.2004.022673
26 https://doi.org/10.1182/blood-2002-07-2170
27 https://doi.org/10.1182/blood-2003-06-1970
28 https://doi.org/10.1182/blood-2003-09-3138
29 https://doi.org/10.1182/blood-2005-10-4240
30 schema:datePublished 2007-02
31 schema:datePublishedReg 2007-02-01
32 schema:description PALB2 was recently identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and predispose to childhood malignancies. We identified pathogenic mutations in PALB2 (also known as FANCN) in seven families affected with Fanconi anemia and cancer in early childhood, demonstrating that biallelic PALB2 mutations cause a new subtype of Fanconi anemia, FA-N, and, similar to biallelic BRCA2 mutations, confer a high risk of childhood cancer.
33 schema:genre research_article
34 schema:inLanguage en
35 schema:isAccessibleForFree false
36 schema:isPartOf Ncb88f7b37bc64bf5806be491ed21662a
37 Ndcbe989dd071440fa6ad64c7370f0b12
38 sg:journal.1103138
39 schema:name Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
40 schema:pagination 162-164
41 schema:productId N3ccf8980925041248677577562b4082c
42 N43303f4e33a9440080f786aaad876a74
43 N6d1da6f90762485090b765b199870fcf
44 Na2e3aad99c334cd3a0c414b056f3fbea
45 Nb423f5a1fa49443f82bbaac6f7a5d5c7
46 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030963670
47 https://doi.org/10.1038/ng1947
48 schema:sdDatePublished 2019-04-11T12:15
49 schema:sdLicense https://scigraph.springernature.com/explorer/license/
50 schema:sdPublisher N3c382cc4f3db4e4fb22349bd317b6504
51 schema:url http://www.nature.com/articles/ng1947
52 sgo:license sg:explorer/license/
53 sgo:sdDataset articles
54 rdf:type schema:ScholarlyArticle
55 N00526079f6264e8ebc9bea1035328fc9 rdf:first sg:person.01126321006.72
56 rdf:rest N4f0b0577984245c2ac254fee898fb3b7
57 N07ed8ed1fbd94f91ae240a8dfcb7aa25 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
58 schema:name Humans
59 rdf:type schema:DefinedTerm
60 N145cbd365f724c418f217e58eabbc712 rdf:first sg:person.01357730116.31
61 rdf:rest N586eabb5827a423ca0b08d874dbcf9af
62 N1834f30010dd45dca3e1e86045de2221 rdf:first sg:person.01315221535.21
63 rdf:rest Ne752c11a983a437194f6d3396275a2db
64 N1964e11f74d4494285ca8baa12e7575b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
65 schema:name Nuclear Proteins
66 rdf:type schema:DefinedTerm
67 N2d50c91a04ce430387ab0ff7608bf559 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
68 schema:name Fanconi Anemia
69 rdf:type schema:DefinedTerm
70 N3c382cc4f3db4e4fb22349bd317b6504 schema:name Springer Nature - SN SciGraph project
71 rdf:type schema:Organization
72 N3ccf8980925041248677577562b4082c schema:name nlm_unique_id
73 schema:value 9216904
74 rdf:type schema:PropertyValue
75 N3f6e39016bb44d538fe17ec1f0a4d29c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
76 schema:name Infant
77 rdf:type schema:DefinedTerm
78 N43303f4e33a9440080f786aaad876a74 schema:name doi
79 schema:value 10.1038/ng1947
80 rdf:type schema:PropertyValue
81 N49b8d4dfde984127826d7b4bc8077422 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
82 schema:name Child, Preschool
83 rdf:type schema:DefinedTerm
84 N4f0b0577984245c2ac254fee898fb3b7 rdf:first sg:person.01331505626.25
85 rdf:rest Ncaa48751e98b4072aac9473bf37946a4
86 N509f2374d4454aebb755b58711dd8da1 rdf:first sg:person.01056542504.81
87 rdf:rest rdf:nil
88 N541894a6794142dfa4f0154b605cd2cd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
89 schema:name Mutation
90 rdf:type schema:DefinedTerm
91 N54ca6da981194e4984e206b7322e18f2 rdf:first sg:person.0742217131.91
92 rdf:rest Nb8804b08089d43bbba68c15509bb1e6c
93 N586eabb5827a423ca0b08d874dbcf9af rdf:first sg:person.01312711421.50
94 rdf:rest N6f6a82a8c48a4818b92a6df1ad6bf85b
95 N6661af1073344bb580c08f09fa52a91a rdf:first sg:person.014600201002.38
96 rdf:rest N1834f30010dd45dca3e1e86045de2221
97 N6ae692a33c754201a21b9ea89b7880bc rdf:first sg:person.01253132563.17
98 rdf:rest N6661af1073344bb580c08f09fa52a91a
99 N6d1da6f90762485090b765b199870fcf schema:name dimensions_id
100 schema:value pub.1030963670
101 rdf:type schema:PropertyValue
102 N6f6a82a8c48a4818b92a6df1ad6bf85b rdf:first sg:person.01001643175.87
103 rdf:rest Nec57af50d0ad48af8b1df928afcc4c12
104 N76cadabd358b48a38e35825413d3d6ef schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
105 schema:name Tumor Suppressor Proteins
106 rdf:type schema:DefinedTerm
107 N7fbed49a3fae4717bbf70224057c9729 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
108 schema:name Genetic Predisposition to Disease
109 rdf:type schema:DefinedTerm
110 N8a17a7ae4599406bad955657a70523ee rdf:first sg:person.01144727033.66
111 rdf:rest N6ae692a33c754201a21b9ea89b7880bc
112 N9e9edd655d024e66b5996356862cef30 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
113 schema:name Fanconi Anemia Complementation Group Proteins
114 rdf:type schema:DefinedTerm
115 Na2e3aad99c334cd3a0c414b056f3fbea schema:name pubmed_id
116 schema:value 17200671
117 rdf:type schema:PropertyValue
118 Nb423f5a1fa49443f82bbaac6f7a5d5c7 schema:name readcube_id
119 schema:value 938251ff53cfa681d4ce1950353a396eeb0b33b47c47a3d76fdaff4f67ccd848
120 rdf:type schema:PropertyValue
121 Nb6995139eda347c08a9c03c5b0f7cc02 rdf:first sg:person.0662030052.99
122 rdf:rest Ne8771435f4764100a05ae63b32201c45
123 Nb8804b08089d43bbba68c15509bb1e6c rdf:first sg:person.01236607242.26
124 rdf:rest Nb6995139eda347c08a9c03c5b0f7cc02
125 Nc0f659ab5f734c389f634dc9d0d4b8d0 rdf:first sg:person.01047023037.91
126 rdf:rest N509f2374d4454aebb755b58711dd8da1
127 Nc6381678c1af45228957374047f68ff9 rdf:first sg:person.01306130465.44
128 rdf:rest N54ca6da981194e4984e206b7322e18f2
129 Ncaa48751e98b4072aac9473bf37946a4 rdf:first sg:person.01313422073.62
130 rdf:rest Nc0f659ab5f734c389f634dc9d0d4b8d0
131 Ncb88f7b37bc64bf5806be491ed21662a schema:volumeNumber 39
132 rdf:type schema:PublicationVolume
133 Ndcbe989dd071440fa6ad64c7370f0b12 schema:issueNumber 2
134 rdf:type schema:PublicationIssue
135 Ne204076fe9ca4c668dfd78e1e580e102 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
136 schema:name Breast Neoplasms
137 rdf:type schema:DefinedTerm
138 Ne557191909fd4b28817df3ce308c60c8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
139 schema:name Fanconi Anemia Complementation Group N Protein
140 rdf:type schema:DefinedTerm
141 Ne752c11a983a437194f6d3396275a2db rdf:first sg:person.01125711731.32
142 rdf:rest Nc6381678c1af45228957374047f68ff9
143 Ne8771435f4764100a05ae63b32201c45 rdf:first sg:person.01246312345.48
144 rdf:rest N00526079f6264e8ebc9bea1035328fc9
145 Nea9441d60f544038a3064cdaa6bb981f rdf:first sg:person.0643162420.10
146 rdf:rest N8a17a7ae4599406bad955657a70523ee
147 Nec57af50d0ad48af8b1df928afcc4c12 rdf:first sg:person.01260474362.15
148 rdf:rest Nea9441d60f544038a3064cdaa6bb981f
149 Necf2171146de43849236a698b107185c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
150 schema:name Alleles
151 rdf:type schema:DefinedTerm
152 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
153 schema:name Medical and Health Sciences
154 rdf:type schema:DefinedTerm
155 anzsrc-for:1112 schema:inDefinedTermSet anzsrc-for:
156 schema:name Oncology and Carcinogenesis
157 rdf:type schema:DefinedTerm
158 sg:grant.2474422 http://pending.schema.org/fundedItem sg:pub.10.1038/ng1947
159 rdf:type schema:MonetaryGrant
160 sg:grant.2635684 http://pending.schema.org/fundedItem sg:pub.10.1038/ng1947
161 rdf:type schema:MonetaryGrant
162 sg:grant.2786745 http://pending.schema.org/fundedItem sg:pub.10.1038/ng1947
163 rdf:type schema:MonetaryGrant
164 sg:grant.3635287 http://pending.schema.org/fundedItem sg:pub.10.1038/ng1947
165 rdf:type schema:MonetaryGrant
166 sg:journal.1103138 schema:issn 1061-4036
167 1546-1718
168 schema:name Nature Genetics
169 rdf:type schema:Periodical
170 sg:person.01001643175.87 schema:affiliation https://www.grid.ac/institutes/grid.257413.6
171 schema:familyName Hanenberg
172 schema:givenName Helmut
173 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01001643175.87
174 rdf:type schema:Person
175 sg:person.01047023037.91 schema:affiliation https://www.grid.ac/institutes/grid.134907.8
176 schema:familyName Auerbach
177 schema:givenName Arleen D
178 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01047023037.91
179 rdf:type schema:Person
180 sg:person.01056542504.81 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
181 schema:familyName Rahman
182 schema:givenName Nazneen
183 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01056542504.81
184 rdf:type schema:Person
185 sg:person.01125711731.32 schema:affiliation https://www.grid.ac/institutes/grid.411327.2
186 schema:familyName Freund
187 schema:givenName Marcel
188 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01125711731.32
189 rdf:type schema:Person
190 sg:person.01126321006.72 schema:affiliation https://www.grid.ac/institutes/grid.413018.f
191 schema:familyName Ariffin
192 schema:givenName Hany
193 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01126321006.72
194 rdf:type schema:Person
195 sg:person.01144727033.66 schema:affiliation https://www.grid.ac/institutes/grid.8379.5
196 schema:familyName Kalb
197 schema:givenName Reinhard
198 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01144727033.66
199 rdf:type schema:Person
200 sg:person.01236607242.26 schema:affiliation https://www.grid.ac/institutes/grid.134907.8
201 schema:familyName Lach
202 schema:givenName Francis P
203 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01236607242.26
204 rdf:type schema:Person
205 sg:person.01246312345.48 schema:affiliation https://www.grid.ac/institutes/grid.6363.0
206 schema:familyName Neitzel
207 schema:givenName Heidemarie
208 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01246312345.48
209 rdf:type schema:Person
210 sg:person.01253132563.17 schema:affiliation https://www.grid.ac/institutes/grid.8379.5
211 schema:familyName Neveling
212 schema:givenName Kornelia
213 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01253132563.17
214 rdf:type schema:Person
215 sg:person.01260474362.15 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
216 schema:familyName Barker
217 schema:givenName Karen
218 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01260474362.15
219 rdf:type schema:Person
220 sg:person.01306130465.44 schema:affiliation https://www.grid.ac/institutes/grid.411327.2
221 schema:familyName Wurm
222 schema:givenName Melanie
223 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01306130465.44
224 rdf:type schema:Person
225 sg:person.01312711421.50 schema:affiliation https://www.grid.ac/institutes/grid.8379.5
226 schema:familyName Schindler
227 schema:givenName Detlev
228 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01312711421.50
229 rdf:type schema:Person
230 sg:person.01313422073.62 schema:affiliation https://www.grid.ac/institutes/grid.13097.3c
231 schema:familyName Mathew
232 schema:givenName Christopher G
233 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313422073.62
234 rdf:type schema:Person
235 sg:person.01315221535.21 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
236 schema:familyName Seal
237 schema:givenName Sheila
238 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01315221535.21
239 rdf:type schema:Person
240 sg:person.01331505626.25 schema:affiliation https://www.grid.ac/institutes/grid.14709.3b
241 schema:familyName Tischkowitz
242 schema:givenName Marc
243 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01331505626.25
244 rdf:type schema:Person
245 sg:person.01357730116.31 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
246 schema:familyName Reid
247 schema:givenName Sarah
248 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01357730116.31
249 rdf:type schema:Person
250 sg:person.014600201002.38 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
251 schema:familyName Kelly
252 schema:givenName Patrick
253 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.014600201002.38
254 rdf:type schema:Person
255 sg:person.0643162420.10 schema:affiliation https://www.grid.ac/institutes/grid.18886.3f
256 schema:familyName Hanks
257 schema:givenName Sandra
258 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0643162420.10
259 rdf:type schema:Person
260 sg:person.0662030052.99 schema:affiliation https://www.grid.ac/institutes/grid.14442.37
261 schema:familyName Yetgin
262 schema:givenName Sevgi
263 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0662030052.99
264 rdf:type schema:Person
265 sg:person.0742217131.91 schema:affiliation https://www.grid.ac/institutes/grid.5386.8
266 schema:familyName Batish
267 schema:givenName Sat Dev
268 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0742217131.91
269 rdf:type schema:Person
270 https://app.dimensions.ai/details/publication/pub.1079493677 schema:CreativeWork
271 https://doi.org/10.1016/j.ceb.2005.03.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037656531
272 rdf:type schema:CreativeWork
273 https://doi.org/10.1016/j.cell.2005.12.009 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017919985
274 rdf:type schema:CreativeWork
275 https://doi.org/10.1016/j.dnarep.2004.03.008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052697353
276 rdf:type schema:CreativeWork
277 https://doi.org/10.1016/j.molcel.2006.05.022 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007379344
278 rdf:type schema:CreativeWork
279 https://doi.org/10.1016/j.mrfmmm.2005.07.008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012773818
280 rdf:type schema:CreativeWork
281 https://doi.org/10.1016/j.ymthe.2005.04.021 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019708002
282 rdf:type schema:CreativeWork
283 https://doi.org/10.1093/jnci/djg072 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014728718
284 rdf:type schema:CreativeWork
285 https://doi.org/10.1126/science.1073834 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010676859
286 rdf:type schema:CreativeWork
287 https://doi.org/10.1136/jmg.2004.022673 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048794715
288 rdf:type schema:CreativeWork
289 https://doi.org/10.1182/blood-2002-07-2170 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014649497
290 rdf:type schema:CreativeWork
291 https://doi.org/10.1182/blood-2003-06-1970 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033977075
292 rdf:type schema:CreativeWork
293 https://doi.org/10.1182/blood-2003-09-3138 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000725928
294 rdf:type schema:CreativeWork
295 https://doi.org/10.1182/blood-2005-10-4240 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047124119
296 rdf:type schema:CreativeWork
297 https://www.grid.ac/institutes/grid.13097.3c schema:alternateName King's College London
298 schema:name Kings College London School of Medicine, Department of Medical and Molecular Genetics, Guy's Hospital, London SE1 9RT, UK.
299 rdf:type schema:Organization
300 https://www.grid.ac/institutes/grid.134907.8 schema:alternateName Rockefeller University
301 schema:name Laboratory of Human Genetics and Hematology, The Rockefeller University, 1230 York Ave., New York, New York 10021, USA.
302 rdf:type schema:Organization
303 https://www.grid.ac/institutes/grid.14442.37 schema:alternateName Hacettepe University
304 schema:name Hacettepe University, Ihsan Dooramacy Children Hospital, Division of Pediatric Hematology, 06100 Ankara, Turkey.
305 rdf:type schema:Organization
306 https://www.grid.ac/institutes/grid.14709.3b schema:alternateName McGill University
307 schema:name Cancer Prevention Center, The Sir Mortimer B. Davis Jewish General Hospital, Montreal, Quebec H3T 1E2, Canada.
308 Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec H3A 1B1, Canada.
309 rdf:type schema:Organization
310 https://www.grid.ac/institutes/grid.18886.3f schema:alternateName Institute of Cancer Research
311 schema:name Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK.
312 rdf:type schema:Organization
313 https://www.grid.ac/institutes/grid.257413.6 schema:alternateName Indiana University – Purdue University Indianapolis
314 schema:name Department of Pediatric Oncology, Hematology and Immunology, Heinrich Heine University, D-40225 Duesseldorf, Germany.
315 Herman B. Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
316 rdf:type schema:Organization
317 https://www.grid.ac/institutes/grid.411327.2 schema:alternateName Heinrich Heine University Düsseldorf
318 schema:name Department of Pediatric Oncology, Hematology and Immunology, Heinrich Heine University, D-40225 Duesseldorf, Germany.
319 rdf:type schema:Organization
320 https://www.grid.ac/institutes/grid.413018.f schema:alternateName University Malaya Medical Centre
321 schema:name Paediatric Haematology-Oncology Unit, University of Malaya Medical Centre, Kuala Lumpur, Malaysia.
322 rdf:type schema:Organization
323 https://www.grid.ac/institutes/grid.5386.8 schema:alternateName Cornell University
324 schema:name Department of Pathology and Laboratory Medicine, Weill Medical College of Cornell University, New York, New York 10021, USA.
325 Laboratory of Human Genetics and Hematology, The Rockefeller University, 1230 York Ave., New York, New York 10021, USA.
326 rdf:type schema:Organization
327 https://www.grid.ac/institutes/grid.6363.0 schema:alternateName Charité
328 schema:name Department of Human Genetics Charité-Universitaetsmedizin, D-13353 Berlin, Germany.
329 rdf:type schema:Organization
330 https://www.grid.ac/institutes/grid.8379.5 schema:alternateName University of Würzburg
331 schema:name Department of Human Genetics, University of Wuerzburg, D-97074 Wuerzburg, Germany.
332 rdf:type schema:Organization
 




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


...