The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2005-09

AUTHORS

Marieke Levitus, Quinten Waisfisz, Barbara C Godthelp, Yne de Vries, Shobbir Hussain, Wouter W Wiegant, Elhaam Elghalbzouri-Maghrani, Jûrgen Steltenpool, Martin A Rooimans, Gerard Pals, Fré Arwert, Christopher G Mathew, Małgorzata Z Zdzienicka, Kevin Hiom, Johan P De Winter, Hans Joenje

ABSTRACT

The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia pathway of genome maintenance. Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1, also called FANCJ. This finding is compelling evidence that the Fanconi anemia pathway functions through a direct physical interaction with DNA. More... »

PAGES

934-935

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1625

DOI

http://dx.doi.org/10.1038/ng1625

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1048817934

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/16116423


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

JSON-LD is the canonical representation for SciGraph data.

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

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosomes, Human, Pair 17", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA-Binding Proteins", 
        "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 Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Complementation Test", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Microsatellite Repeats", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Molecular Sequence Data", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "RNA Helicases", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sequence Deletion", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "VU University Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.16872.3a", 
          "name": [
            "Department of Clinical Genetics and Human Genetics, VU University Medical Center, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Levitus", 
        "givenName": "Marieke", 
        "id": "sg:person.01257644010.08", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257644010.08"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "VU University Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.16872.3a", 
          "name": [
            "Department of Clinical Genetics and Human Genetics, VU University Medical Center, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Waisfisz", 
        "givenName": "Quinten", 
        "id": "sg:person.01225351146.26", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225351146.26"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Leiden University Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.10419.3d", 
          "name": [
            "Department of Toxicogenetics, Leiden University Medical Center, Wassenaarseweg 72, NL-2333 AL Leiden, The Netherlands."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Godthelp", 
        "givenName": "Barbara C", 
        "id": "sg:person.0755312034.55", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0755312034.55"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "VU University Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.16872.3a", 
          "name": [
            "Department of Clinical Genetics and Human Genetics, VU University Medical Center, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands."
          ], 
          "type": "Organization"
        }, 
        "familyName": "de Vries", 
        "givenName": "Yne", 
        "id": "sg:person.0602004501.14", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0602004501.14"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "King's College London", 
          "id": "https://www.grid.ac/institutes/grid.13097.3c", 
          "name": [
            "Division of Genetics and Molecular Medicine, King's College London, Guy's Hospital, London, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hussain", 
        "givenName": "Shobbir", 
        "id": "sg:person.01070145426.22", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01070145426.22"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Leiden University Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.10419.3d", 
          "name": [
            "Department of Toxicogenetics, Leiden University Medical Center, Wassenaarseweg 72, NL-2333 AL Leiden, The Netherlands."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wiegant", 
        "givenName": "Wouter W", 
        "id": "sg:person.01345565756.59", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01345565756.59"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Leiden University Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.10419.3d", 
          "name": [
            "Department of Toxicogenetics, Leiden University Medical Center, Wassenaarseweg 72, NL-2333 AL Leiden, The Netherlands."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Elghalbzouri-Maghrani", 
        "givenName": "Elhaam", 
        "id": "sg:person.01365376373.91", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01365376373.91"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "VU University Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.16872.3a", 
          "name": [
            "Department of Clinical Genetics and Human Genetics, VU University Medical Center, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Steltenpool", 
        "givenName": "J\u00fbrgen", 
        "id": "sg:person.01170521456.60", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01170521456.60"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "VU University Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.16872.3a", 
          "name": [
            "Department of Clinical Genetics and Human Genetics, VU University Medical Center, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rooimans", 
        "givenName": "Martin A", 
        "id": "sg:person.01055457051.07", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01055457051.07"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "VU University Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.16872.3a", 
          "name": [
            "Department of Clinical Genetics and Human Genetics, VU University Medical Center, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pals", 
        "givenName": "Gerard", 
        "id": "sg:person.0713537515.33", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0713537515.33"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "VU University Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.16872.3a", 
          "name": [
            "Department of Clinical Genetics and Human Genetics, VU University Medical Center, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Arwert", 
        "givenName": "Fr\u00e9", 
        "id": "sg:person.0757764412.82", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0757764412.82"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "King's College London", 
          "id": "https://www.grid.ac/institutes/grid.13097.3c", 
          "name": [
            "Division of Genetics and Molecular Medicine, King's College London, Guy's Hospital, London, 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": "Nicolaus Copernicus University", 
          "id": "https://www.grid.ac/institutes/grid.5374.5", 
          "name": [
            "Department of Toxicogenetics, Leiden University Medical Center, Wassenaarseweg 72, NL-2333 AL Leiden, The Netherlands.", 
            "Department of Molecular Cell Genetics, Nicolaus Copernicus University, Collegium Medicum of L. Rydygier, Bydgoszcz, Poland."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zdzienicka", 
        "givenName": "Ma\u0142gorzata Z", 
        "id": "sg:person.01200224177.97", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01200224177.97"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "MRC Laboratory of Molecular Biology", 
          "id": "https://www.grid.ac/institutes/grid.42475.30", 
          "name": [
            "MRC Laboratory of Molecular Biology, Hills Road, CB2 2QH, Cambridge, UK."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hiom", 
        "givenName": "Kevin", 
        "id": "sg:person.0646412745.05", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0646412745.05"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "VU University Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.16872.3a", 
          "name": [
            "Department of Clinical Genetics and Human Genetics, VU University Medical Center, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands."
          ], 
          "type": "Organization"
        }, 
        "familyName": "De Winter", 
        "givenName": "Johan P", 
        "id": "sg:person.01127433351.24", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01127433351.24"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "VU University Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.16872.3a", 
          "name": [
            "Department of Clinical Genetics and Human Genetics, VU University Medical Center, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Joenje", 
        "givenName": "Hans", 
        "id": "sg:person.053742714.63", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.053742714.63"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/ng1626", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005559671", 
          "https://doi.org/10.1038/ng1626"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1626", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005559671", 
          "https://doi.org/10.1038/ng1626"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1626", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005559671", 
          "https://doi.org/10.1038/ng1626"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1182/blood-2003-08-2915", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1009457514"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/356763a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1021567092", 
          "https://doi.org/10.1038/356763a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.0308717101", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027639895"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1627", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033214796", 
          "https://doi.org/10.1038/ng1627"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1627", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033214796", 
          "https://doi.org/10.1038/ng1627"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ccr.2004.12.001", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033720651"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/35076590", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046006966", 
          "https://doi.org/10.1038/35076590"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/35076590", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046006966", 
          "https://doi.org/10.1038/35076590"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00335-003-4002-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047936121", 
          "https://doi.org/10.1007/s00335-003-4002-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0092-8674(01)00304-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048892237"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1126/science.1088753", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1062448490"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2005-09", 
    "datePublishedReg": "2005-09-01", 
    "description": "The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia pathway of genome maintenance. Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1, also called FANCJ. This finding is compelling evidence that the Fanconi anemia pathway functions through a direct physical interaction with DNA.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/ng1625", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1103138", 
        "issn": [
          "1061-4036", 
          "1546-1718"
        ], 
        "name": "Nature Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "9", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "37"
      }
    ], 
    "name": "The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J", 
    "pagination": "934-935", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "e88f6d56927aeb6f85d10c8cf7f9e763632ce6acce82bba95e2c1583f3596310"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "16116423"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9216904"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ng1625"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1048817934"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ng1625", 
      "https://app.dimensions.ai/details/publication/pub.1048817934"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T12:21", 
    "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/v90/0000000362_0000000362/records_87078_00000001.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/articles/ng1625"
  }
]
 

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/ng1625'

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/ng1625'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng1625'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng1625'


 

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

266 TRIPLES      21 PREDICATES      50 URIs      32 LITERALS      20 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ng1625 schema:about N06fe78c5739546dd8873068acef9c8cc
2 N103c640ed3654c67ae521c024f088a74
3 N1eadd6f9e7f749ffbf256f70efd7ec5f
4 N68881e3d52ff4bacbb20ee29934dfb8d
5 N7c242e0a615046e39aef31a7033c646a
6 N9a01122acbf74be49e65a79a4b4049cd
7 Na3273f85693d4906bb7cd525e8fa5d89
8 Nb3f5a9c0e6d549998dc897967b65424d
9 Nb7635be8c2d047cebc8dba4ad9e8d77c
10 Nca5c0988b3194b5daeda16cef5eccdad
11 Ncf0cfa7482fc4000ad1b1c7b8a88a4f2
12 anzsrc-for:06
13 anzsrc-for:0604
14 schema:author N50698e5f947e4d68b43f0e308e066efd
15 schema:citation sg:pub.10.1007/s00335-003-4002-0
16 sg:pub.10.1038/35076590
17 sg:pub.10.1038/356763a0
18 sg:pub.10.1038/ng1626
19 sg:pub.10.1038/ng1627
20 https://doi.org/10.1016/j.ccr.2004.12.001
21 https://doi.org/10.1016/s0092-8674(01)00304-x
22 https://doi.org/10.1073/pnas.0308717101
23 https://doi.org/10.1126/science.1088753
24 https://doi.org/10.1182/blood-2003-08-2915
25 schema:datePublished 2005-09
26 schema:datePublishedReg 2005-09-01
27 schema:description The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia pathway of genome maintenance. Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1, also called FANCJ. This finding is compelling evidence that the Fanconi anemia pathway functions through a direct physical interaction with DNA.
28 schema:genre research_article
29 schema:inLanguage en
30 schema:isAccessibleForFree false
31 schema:isPartOf N258520b60dc74e84bb4cd4fd8d3254d4
32 Ndb052273f19c44b1aff54815f963b300
33 sg:journal.1103138
34 schema:name The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
35 schema:pagination 934-935
36 schema:productId N08a33cf3b5544c57ae6565ee49bdeeb9
37 N126bf4bea5484c8499967f634a838808
38 N4b81718def6145d991b753d7c016fba9
39 N87f5966c5016439c859f68a1dd98d80a
40 Neb98a55b051c47eb9d6be1b6385cc4a8
41 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048817934
42 https://doi.org/10.1038/ng1625
43 schema:sdDatePublished 2019-04-11T12:21
44 schema:sdLicense https://scigraph.springernature.com/explorer/license/
45 schema:sdPublisher N93032d466e4a46eeb233e119a7e5a609
46 schema:url http://www.nature.com/articles/ng1625
47 sgo:license sg:explorer/license/
48 sgo:sdDataset articles
49 rdf:type schema:ScholarlyArticle
50 N023e0e89588d4cd686cf242a05c7218e rdf:first sg:person.01070145426.22
51 rdf:rest Nbedcf6a8cfb248638e1e7fb783c15d9b
52 N06fe78c5739546dd8873068acef9c8cc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
53 schema:name Chromosomes, Human, Pair 17
54 rdf:type schema:DefinedTerm
55 N08a33cf3b5544c57ae6565ee49bdeeb9 schema:name nlm_unique_id
56 schema:value 9216904
57 rdf:type schema:PropertyValue
58 N103c640ed3654c67ae521c024f088a74 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
59 schema:name Fanconi Anemia
60 rdf:type schema:DefinedTerm
61 N126bf4bea5484c8499967f634a838808 schema:name dimensions_id
62 schema:value pub.1048817934
63 rdf:type schema:PropertyValue
64 N1eadd6f9e7f749ffbf256f70efd7ec5f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
65 schema:name Humans
66 rdf:type schema:DefinedTerm
67 N207decbbecc842b69141851c83f2be72 rdf:first sg:person.0713537515.33
68 rdf:rest Nc390130ed8a946ce8b03504ef39e050a
69 N258520b60dc74e84bb4cd4fd8d3254d4 schema:issueNumber 9
70 rdf:type schema:PublicationIssue
71 N4b81718def6145d991b753d7c016fba9 schema:name pubmed_id
72 schema:value 16116423
73 rdf:type schema:PropertyValue
74 N50698e5f947e4d68b43f0e308e066efd rdf:first sg:person.01257644010.08
75 rdf:rest N9220407e62bb4ac388114cfd1faea610
76 N5c0a6a3bc4d64ad68c4e91563e9006b6 rdf:first sg:person.053742714.63
77 rdf:rest rdf:nil
78 N6297e074a4bc43b29bafe14388216a8b rdf:first sg:person.01313422073.62
79 rdf:rest N7ec4aacf2b2045c2a3b39c35ffde70d4
80 N68881e3d52ff4bacbb20ee29934dfb8d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
81 schema:name Molecular Sequence Data
82 rdf:type schema:DefinedTerm
83 N7c242e0a615046e39aef31a7033c646a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
84 schema:name Genetic Complementation Test
85 rdf:type schema:DefinedTerm
86 N7ec4aacf2b2045c2a3b39c35ffde70d4 rdf:first sg:person.01200224177.97
87 rdf:rest Nacd53c7caa18445b858f071376f6bff2
88 N87f5966c5016439c859f68a1dd98d80a schema:name readcube_id
89 schema:value e88f6d56927aeb6f85d10c8cf7f9e763632ce6acce82bba95e2c1583f3596310
90 rdf:type schema:PropertyValue
91 N91709c79545d4031b07b601ba7a06017 rdf:first sg:person.0755312034.55
92 rdf:rest Ne4cb6c693dda4f1f94d2edaf62626f41
93 N917c4a0f05f6498095c30f9f48eb47b5 rdf:first sg:person.01365376373.91
94 rdf:rest Na9c8869016e74b018f0beb880c5b6477
95 N9220407e62bb4ac388114cfd1faea610 rdf:first sg:person.01225351146.26
96 rdf:rest N91709c79545d4031b07b601ba7a06017
97 N93032d466e4a46eeb233e119a7e5a609 schema:name Springer Nature - SN SciGraph project
98 rdf:type schema:Organization
99 N9a01122acbf74be49e65a79a4b4049cd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
100 schema:name Fanconi Anemia Complementation Group Proteins
101 rdf:type schema:DefinedTerm
102 Na3273f85693d4906bb7cd525e8fa5d89 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
103 schema:name RNA Helicases
104 rdf:type schema:DefinedTerm
105 Na9c8869016e74b018f0beb880c5b6477 rdf:first sg:person.01170521456.60
106 rdf:rest Ne1316a6e85fa4b4b959b1900e12da124
107 Nacd53c7caa18445b858f071376f6bff2 rdf:first sg:person.0646412745.05
108 rdf:rest Ncaedaa97796247e990efedbade5b48ed
109 Nb3f5a9c0e6d549998dc897967b65424d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
110 schema:name DNA-Binding Proteins
111 rdf:type schema:DefinedTerm
112 Nb7635be8c2d047cebc8dba4ad9e8d77c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
113 schema:name Microsatellite Repeats
114 rdf:type schema:DefinedTerm
115 Nbedcf6a8cfb248638e1e7fb783c15d9b rdf:first sg:person.01345565756.59
116 rdf:rest N917c4a0f05f6498095c30f9f48eb47b5
117 Nc390130ed8a946ce8b03504ef39e050a rdf:first sg:person.0757764412.82
118 rdf:rest N6297e074a4bc43b29bafe14388216a8b
119 Nca5c0988b3194b5daeda16cef5eccdad schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
120 schema:name Sequence Deletion
121 rdf:type schema:DefinedTerm
122 Ncaedaa97796247e990efedbade5b48ed rdf:first sg:person.01127433351.24
123 rdf:rest N5c0a6a3bc4d64ad68c4e91563e9006b6
124 Ncf0cfa7482fc4000ad1b1c7b8a88a4f2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
125 schema:name Mutation
126 rdf:type schema:DefinedTerm
127 Ndb052273f19c44b1aff54815f963b300 schema:volumeNumber 37
128 rdf:type schema:PublicationVolume
129 Ne1316a6e85fa4b4b959b1900e12da124 rdf:first sg:person.01055457051.07
130 rdf:rest N207decbbecc842b69141851c83f2be72
131 Ne4cb6c693dda4f1f94d2edaf62626f41 rdf:first sg:person.0602004501.14
132 rdf:rest N023e0e89588d4cd686cf242a05c7218e
133 Neb98a55b051c47eb9d6be1b6385cc4a8 schema:name doi
134 schema:value 10.1038/ng1625
135 rdf:type schema:PropertyValue
136 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
137 schema:name Biological Sciences
138 rdf:type schema:DefinedTerm
139 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
140 schema:name Genetics
141 rdf:type schema:DefinedTerm
142 sg:journal.1103138 schema:issn 1061-4036
143 1546-1718
144 schema:name Nature Genetics
145 rdf:type schema:Periodical
146 sg:person.01055457051.07 schema:affiliation https://www.grid.ac/institutes/grid.16872.3a
147 schema:familyName Rooimans
148 schema:givenName Martin A
149 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01055457051.07
150 rdf:type schema:Person
151 sg:person.01070145426.22 schema:affiliation https://www.grid.ac/institutes/grid.13097.3c
152 schema:familyName Hussain
153 schema:givenName Shobbir
154 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01070145426.22
155 rdf:type schema:Person
156 sg:person.01127433351.24 schema:affiliation https://www.grid.ac/institutes/grid.16872.3a
157 schema:familyName De Winter
158 schema:givenName Johan P
159 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01127433351.24
160 rdf:type schema:Person
161 sg:person.01170521456.60 schema:affiliation https://www.grid.ac/institutes/grid.16872.3a
162 schema:familyName Steltenpool
163 schema:givenName Jûrgen
164 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01170521456.60
165 rdf:type schema:Person
166 sg:person.01200224177.97 schema:affiliation https://www.grid.ac/institutes/grid.5374.5
167 schema:familyName Zdzienicka
168 schema:givenName Małgorzata Z
169 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01200224177.97
170 rdf:type schema:Person
171 sg:person.01225351146.26 schema:affiliation https://www.grid.ac/institutes/grid.16872.3a
172 schema:familyName Waisfisz
173 schema:givenName Quinten
174 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01225351146.26
175 rdf:type schema:Person
176 sg:person.01257644010.08 schema:affiliation https://www.grid.ac/institutes/grid.16872.3a
177 schema:familyName Levitus
178 schema:givenName Marieke
179 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01257644010.08
180 rdf:type schema:Person
181 sg:person.01313422073.62 schema:affiliation https://www.grid.ac/institutes/grid.13097.3c
182 schema:familyName Mathew
183 schema:givenName Christopher G
184 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313422073.62
185 rdf:type schema:Person
186 sg:person.01345565756.59 schema:affiliation https://www.grid.ac/institutes/grid.10419.3d
187 schema:familyName Wiegant
188 schema:givenName Wouter W
189 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01345565756.59
190 rdf:type schema:Person
191 sg:person.01365376373.91 schema:affiliation https://www.grid.ac/institutes/grid.10419.3d
192 schema:familyName Elghalbzouri-Maghrani
193 schema:givenName Elhaam
194 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01365376373.91
195 rdf:type schema:Person
196 sg:person.053742714.63 schema:affiliation https://www.grid.ac/institutes/grid.16872.3a
197 schema:familyName Joenje
198 schema:givenName Hans
199 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.053742714.63
200 rdf:type schema:Person
201 sg:person.0602004501.14 schema:affiliation https://www.grid.ac/institutes/grid.16872.3a
202 schema:familyName de Vries
203 schema:givenName Yne
204 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0602004501.14
205 rdf:type schema:Person
206 sg:person.0646412745.05 schema:affiliation https://www.grid.ac/institutes/grid.42475.30
207 schema:familyName Hiom
208 schema:givenName Kevin
209 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0646412745.05
210 rdf:type schema:Person
211 sg:person.0713537515.33 schema:affiliation https://www.grid.ac/institutes/grid.16872.3a
212 schema:familyName Pals
213 schema:givenName Gerard
214 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0713537515.33
215 rdf:type schema:Person
216 sg:person.0755312034.55 schema:affiliation https://www.grid.ac/institutes/grid.10419.3d
217 schema:familyName Godthelp
218 schema:givenName Barbara C
219 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0755312034.55
220 rdf:type schema:Person
221 sg:person.0757764412.82 schema:affiliation https://www.grid.ac/institutes/grid.16872.3a
222 schema:familyName Arwert
223 schema:givenName Fré
224 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0757764412.82
225 rdf:type schema:Person
226 sg:pub.10.1007/s00335-003-4002-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047936121
227 https://doi.org/10.1007/s00335-003-4002-0
228 rdf:type schema:CreativeWork
229 sg:pub.10.1038/35076590 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046006966
230 https://doi.org/10.1038/35076590
231 rdf:type schema:CreativeWork
232 sg:pub.10.1038/356763a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1021567092
233 https://doi.org/10.1038/356763a0
234 rdf:type schema:CreativeWork
235 sg:pub.10.1038/ng1626 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005559671
236 https://doi.org/10.1038/ng1626
237 rdf:type schema:CreativeWork
238 sg:pub.10.1038/ng1627 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033214796
239 https://doi.org/10.1038/ng1627
240 rdf:type schema:CreativeWork
241 https://doi.org/10.1016/j.ccr.2004.12.001 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033720651
242 rdf:type schema:CreativeWork
243 https://doi.org/10.1016/s0092-8674(01)00304-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1048892237
244 rdf:type schema:CreativeWork
245 https://doi.org/10.1073/pnas.0308717101 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027639895
246 rdf:type schema:CreativeWork
247 https://doi.org/10.1126/science.1088753 schema:sameAs https://app.dimensions.ai/details/publication/pub.1062448490
248 rdf:type schema:CreativeWork
249 https://doi.org/10.1182/blood-2003-08-2915 schema:sameAs https://app.dimensions.ai/details/publication/pub.1009457514
250 rdf:type schema:CreativeWork
251 https://www.grid.ac/institutes/grid.10419.3d schema:alternateName Leiden University Medical Center
252 schema:name Department of Toxicogenetics, Leiden University Medical Center, Wassenaarseweg 72, NL-2333 AL Leiden, The Netherlands.
253 rdf:type schema:Organization
254 https://www.grid.ac/institutes/grid.13097.3c schema:alternateName King's College London
255 schema:name Division of Genetics and Molecular Medicine, King's College London, Guy's Hospital, London, UK.
256 rdf:type schema:Organization
257 https://www.grid.ac/institutes/grid.16872.3a schema:alternateName VU University Medical Center
258 schema:name Department of Clinical Genetics and Human Genetics, VU University Medical Center, Van der Boechorststraat 7, NL-1081 BT Amsterdam, The Netherlands.
259 rdf:type schema:Organization
260 https://www.grid.ac/institutes/grid.42475.30 schema:alternateName MRC Laboratory of Molecular Biology
261 schema:name MRC Laboratory of Molecular Biology, Hills Road, CB2 2QH, Cambridge, UK.
262 rdf:type schema:Organization
263 https://www.grid.ac/institutes/grid.5374.5 schema:alternateName Nicolaus Copernicus University
264 schema:name Department of Molecular Cell Genetics, Nicolaus Copernicus University, Collegium Medicum of L. Rydygier, Bydgoszcz, Poland.
265 Department of Toxicogenetics, Leiden University Medical Center, Wassenaarseweg 72, NL-2333 AL Leiden, The Netherlands.
266 rdf:type schema:Organization
 




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


...