The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2001-01

AUTHORS

Craig L. Bennett, Jacinda Christie, Fred Ramsdell, Mary E. Brunkow, Polly J. Ferguson, Luke Whitesell, Thaddeus E. Kelly, Frank T. Saulsbury, Phillip F. Chance, Hans D. Ochs

ABSTRACT

IPEX is a fatal disorder characterized by immune dysregulation, polyendocrinopathy, enteropathy and X-linked inheritance (MIM 304930). We present genetic evidence that different mutations of the human gene FOXP3, the ortholog of the gene mutated in scurfy mice (Foxp3), causes IPEX syndrome. Recent linkage analysis studies mapped the gene mutated in IPEX to an interval of 17-20-cM at Xp11. 23-Xq13.3. More... »

PAGES

ng0101_20

Journal

TITLE

Nature Genetics

ISSUE

1

VOLUME

27

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/83713

DOI

http://dx.doi.org/10.1038/83713

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1005319975

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11137993


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": "Amino Acid Sequence", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Animals", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA-Binding Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Forkhead Transcription Factors", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Linkage", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mice", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Molecular Sequence Data", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pedigree", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Phenotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Polyendocrinopathies, Autoimmune", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Protein-Losing Enteropathies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sequence Alignment", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Syndrome", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "X Chromosome", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "name": [
            "Division of Genetics and Development, Seattle, Washington, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bennett", 
        "givenName": "Craig L.", 
        "id": "sg:person.0602273666.64", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0602273666.64"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Washington", 
          "id": "https://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Division of Immunology, Infectious Disease and Rheumatology, Department of Pediatrics, University of Washington, Seattle, Washington, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Christie", 
        "givenName": "Jacinda", 
        "id": "sg:person.01237633263.53", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237633263.53"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Celltech Chiroscience, Inc., Bothell, Washington, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ramsdell", 
        "givenName": "Fred", 
        "id": "sg:person.01207302115.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01207302115.25"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Celltech Chiroscience, Inc., Bothell, Washington, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Brunkow", 
        "givenName": "Mary E.", 
        "id": "sg:person.01133243773.16", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01133243773.16"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Alabama at Birmingham", 
          "id": "https://www.grid.ac/institutes/grid.265892.2", 
          "name": [
            "Department of Pediatrics, University of Alabama, Birmingham, Alabama, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ferguson", 
        "givenName": "Polly J.", 
        "id": "sg:person.01244252030.49", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01244252030.49"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Arizona", 
          "id": "https://www.grid.ac/institutes/grid.134563.6", 
          "name": [
            "Department of Pediatrics, Steele Memorial Children's Research Center, University of Arizona, Tucson, Arizona, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Whitesell", 
        "givenName": "Luke", 
        "id": "sg:person.0642625314.83", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0642625314.83"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Virginia", 
          "id": "https://www.grid.ac/institutes/grid.27755.32", 
          "name": [
            "Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kelly", 
        "givenName": "Thaddeus E.", 
        "id": "sg:person.01116250412.85", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01116250412.85"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Virginia", 
          "id": "https://www.grid.ac/institutes/grid.27755.32", 
          "name": [
            "Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Saulsbury", 
        "givenName": "Frank T.", 
        "id": "sg:person.01232242476.03", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01232242476.03"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Division of Genetics and Development, Seattle, Washington, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Chance", 
        "givenName": "Phillip F.", 
        "id": "sg:person.01224060372.64", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01224060372.64"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Washington", 
          "id": "https://www.grid.ac/institutes/grid.34477.33", 
          "name": [
            "Division of Immunology, Infectious Disease and Rheumatology, Department of Pediatrics, University of Washington, Seattle, Washington, USA."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ochs", 
        "givenName": "Hans D.", 
        "id": "sg:person.01351055147.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01351055147.31"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/493", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006736186", 
          "https://doi.org/10.1038/493"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/493", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1006736186", 
          "https://doi.org/10.1038/493"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200354", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007942567", 
          "https://doi.org/10.1038/sj.ejhg.5200354"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200354", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007942567", 
          "https://doi.org/10.1038/sj.ejhg.5200354"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(20000228)90:5<390::aid-ajmg9>3.0.co;2-m", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012352156"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-3476(82)80573-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016168711"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/1294", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029730098", 
          "https://doi.org/10.1038/1294"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/1294", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029730098", 
          "https://doi.org/10.1038/1294"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1073/pnas.87.7.2433", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030340499"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/83784", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032693504", 
          "https://doi.org/10.1038/83784"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/83784", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032693504", 
          "https://doi.org/10.1038/83784"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/302109", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058609696"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/302761", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058610321"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074262600", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074599649", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.4049/jimmunol.164.6.2915", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1074601204"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2001-01", 
    "datePublishedReg": "2001-01-01", 
    "description": "IPEX is a fatal disorder characterized by immune dysregulation, polyendocrinopathy, enteropathy and X-linked inheritance (MIM 304930). We present genetic evidence that different mutations of the human gene FOXP3, the ortholog of the gene mutated in scurfy mice (Foxp3), causes IPEX syndrome. Recent linkage analysis studies mapped the gene mutated in IPEX to an interval of 17-20-cM at Xp11. 23-Xq13.3.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/83713", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.2635442", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.2522879", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1103138", 
        "issn": [
          "1061-4036", 
          "1546-1718"
        ], 
        "name": "Nature Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "27"
      }
    ], 
    "name": "The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3", 
    "pagination": "ng0101_20", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "1958875ab529ebb1b3104482f84f56a2eabe1628111e47a7f7772fb1404bade4"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "11137993"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9216904"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/83713"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1005319975"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/83713", 
      "https://app.dimensions.ai/details/publication/pub.1005319975"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T12:26", 
    "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_87115_00000000.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/articles/ng0101_20"
  }
]
 

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.10.1038/83713'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/83713'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/83713'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/83713'


 

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

263 TRIPLES      21 PREDICATES      59 URIs      39 LITERALS      27 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/83713 schema:about N0f441391f64a43c68ee8375afc4a2d9b
2 N1636d110c0814756b2f7e90f36bf0388
3 N1fe22ff385dd4b5ca35c4055902f19e0
4 N38b8385f2bec404b983b8394f7e5d406
5 N3a6f44ee79e64891a306c028fbbb6016
6 N4c4caa8014924a1e830566ab1019c7d7
7 N81cc56098b4243e29490fe85c984dfa6
8 N899a0424eeca46d3bb6bd89d34aeb5b2
9 N9af039564ff74ba5ba23f4058cac46c7
10 Na18db21696b2477685b55d79331b4c79
11 Nb26bab8f63b6405882e75160f96a565c
12 Nb4542c2634bd4f55b93bdcf8e2033f42
13 Nb83088ed53f44737bfd8f774762e15f0
14 Nc165ab5319f2418bb9a179f2d35d6052
15 Nc3d38757b09040e8b6dad46dfff75f88
16 Ne7234a139bd149758b274b30b345c310
17 Nf3ae9701f1e74ff69d81832a4c1218ce
18 Nf7b8dbedf4994b84a21273c2a28d056c
19 anzsrc-for:06
20 anzsrc-for:0604
21 schema:author N70addd14171d4188986a0f66777feed6
22 schema:citation sg:pub.10.1038/1294
23 sg:pub.10.1038/493
24 sg:pub.10.1038/83784
25 sg:pub.10.1038/sj.ejhg.5200354
26 https://app.dimensions.ai/details/publication/pub.1074262600
27 https://app.dimensions.ai/details/publication/pub.1074599649
28 https://doi.org/10.1002/(sici)1096-8628(20000228)90:5<390::aid-ajmg9>3.0.co;2-m
29 https://doi.org/10.1016/s0022-3476(82)80573-8
30 https://doi.org/10.1073/pnas.87.7.2433
31 https://doi.org/10.1086/302109
32 https://doi.org/10.1086/302761
33 https://doi.org/10.4049/jimmunol.164.6.2915
34 schema:datePublished 2001-01
35 schema:datePublishedReg 2001-01-01
36 schema:description IPEX is a fatal disorder characterized by immune dysregulation, polyendocrinopathy, enteropathy and X-linked inheritance (MIM 304930). We present genetic evidence that different mutations of the human gene FOXP3, the ortholog of the gene mutated in scurfy mice (Foxp3), causes IPEX syndrome. Recent linkage analysis studies mapped the gene mutated in IPEX to an interval of 17-20-cM at Xp11. 23-Xq13.3.
37 schema:genre research_article
38 schema:inLanguage en
39 schema:isAccessibleForFree false
40 schema:isPartOf N4becb7d81c9a409a8939f0cb0aadd8c8
41 N7c7c34a5dc4640829ee86d1f8b12c6f5
42 sg:journal.1103138
43 schema:name The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
44 schema:pagination ng0101_20
45 schema:productId N951a8ec2214b448b985d561f8c0cc360
46 Nc5cfc483a5b34aa4ae95af45b275059a
47 Nd4ef7daeda4c498cacb4df54f183aa7b
48 Nf61f03bc4bbf47b6888bdbbc15758d05
49 Nf6cbaebb7c3f4558b03c3a79fb72b674
50 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005319975
51 https://doi.org/10.1038/83713
52 schema:sdDatePublished 2019-04-11T12:26
53 schema:sdLicense https://scigraph.springernature.com/explorer/license/
54 schema:sdPublisher Ncbb59b1f1fc44e12a45983f72c269f2b
55 schema:url http://www.nature.com/articles/ng0101_20
56 sgo:license sg:explorer/license/
57 sgo:sdDataset articles
58 rdf:type schema:ScholarlyArticle
59 N0089983b5722420486585803864ca6ea rdf:first sg:person.01232242476.03
60 rdf:rest Nacbbcdb3f5ad4c95b56579301baffdc2
61 N0f441391f64a43c68ee8375afc4a2d9b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
62 schema:name Protein-Losing Enteropathies
63 rdf:type schema:DefinedTerm
64 N1636d110c0814756b2f7e90f36bf0388 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
65 schema:name Animals
66 rdf:type schema:DefinedTerm
67 N1fe22ff385dd4b5ca35c4055902f19e0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
68 schema:name Male
69 rdf:type schema:DefinedTerm
70 N227a4cd17bea46d3996c3286cca51e9d rdf:first sg:person.01351055147.31
71 rdf:rest rdf:nil
72 N38b8385f2bec404b983b8394f7e5d406 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
73 schema:name Pedigree
74 rdf:type schema:DefinedTerm
75 N3a6f44ee79e64891a306c028fbbb6016 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
76 schema:name Mice
77 rdf:type schema:DefinedTerm
78 N4becb7d81c9a409a8939f0cb0aadd8c8 schema:issueNumber 1
79 rdf:type schema:PublicationIssue
80 N4c4caa8014924a1e830566ab1019c7d7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
81 schema:name Sequence Alignment
82 rdf:type schema:DefinedTerm
83 N70addd14171d4188986a0f66777feed6 rdf:first sg:person.0602273666.64
84 rdf:rest Nbc4da4c856694db5b72004776f00b15b
85 N7c7c34a5dc4640829ee86d1f8b12c6f5 schema:volumeNumber 27
86 rdf:type schema:PublicationVolume
87 N81cc56098b4243e29490fe85c984dfa6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
88 schema:name X Chromosome
89 rdf:type schema:DefinedTerm
90 N877c17bbdf664375a81b33f04e273354 schema:name Celltech Chiroscience, Inc., Bothell, Washington, USA.
91 rdf:type schema:Organization
92 N899a0424eeca46d3bb6bd89d34aeb5b2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
93 schema:name Genetic Linkage
94 rdf:type schema:DefinedTerm
95 N951a8ec2214b448b985d561f8c0cc360 schema:name nlm_unique_id
96 schema:value 9216904
97 rdf:type schema:PropertyValue
98 N9af039564ff74ba5ba23f4058cac46c7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
99 schema:name Phenotype
100 rdf:type schema:DefinedTerm
101 N9b8ad0d6a2c145708c66c24f99e7491c schema:name Celltech Chiroscience, Inc., Bothell, Washington, USA.
102 rdf:type schema:Organization
103 Na18db21696b2477685b55d79331b4c79 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
104 schema:name Amino Acid Sequence
105 rdf:type schema:DefinedTerm
106 Nacbbcdb3f5ad4c95b56579301baffdc2 rdf:first sg:person.01224060372.64
107 rdf:rest N227a4cd17bea46d3996c3286cca51e9d
108 Nb26bab8f63b6405882e75160f96a565c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
109 schema:name Mutation
110 rdf:type schema:DefinedTerm
111 Nb4542c2634bd4f55b93bdcf8e2033f42 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
112 schema:name Forkhead Transcription Factors
113 rdf:type schema:DefinedTerm
114 Nb6dada5cf5724c6a8866c8fbec854e94 schema:name Division of Genetics and Development, Seattle, Washington, USA.
115 rdf:type schema:Organization
116 Nb83088ed53f44737bfd8f774762e15f0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
117 schema:name Molecular Sequence Data
118 rdf:type schema:DefinedTerm
119 Nbc4da4c856694db5b72004776f00b15b rdf:first sg:person.01237633263.53
120 rdf:rest Nc703d6ff32b343748cef42ee2d0c84d4
121 Nc165ab5319f2418bb9a179f2d35d6052 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
122 schema:name DNA-Binding Proteins
123 rdf:type schema:DefinedTerm
124 Nc3d38757b09040e8b6dad46dfff75f88 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
125 schema:name Syndrome
126 rdf:type schema:DefinedTerm
127 Nc5cfc483a5b34aa4ae95af45b275059a schema:name dimensions_id
128 schema:value pub.1005319975
129 rdf:type schema:PropertyValue
130 Nc703d6ff32b343748cef42ee2d0c84d4 rdf:first sg:person.01207302115.25
131 rdf:rest Nceee941618e443bb84aff83fcc8d4f5d
132 Ncbb59b1f1fc44e12a45983f72c269f2b schema:name Springer Nature - SN SciGraph project
133 rdf:type schema:Organization
134 Ncbce6a127867436ea171fb9eb1198237 rdf:first sg:person.01116250412.85
135 rdf:rest N0089983b5722420486585803864ca6ea
136 Nceee941618e443bb84aff83fcc8d4f5d rdf:first sg:person.01133243773.16
137 rdf:rest Nea4ad3a31418499698a2330eb4c4882b
138 Nd445209233ff473888aa7299dd069fc1 rdf:first sg:person.0642625314.83
139 rdf:rest Ncbce6a127867436ea171fb9eb1198237
140 Nd4ef7daeda4c498cacb4df54f183aa7b schema:name readcube_id
141 schema:value 1958875ab529ebb1b3104482f84f56a2eabe1628111e47a7f7772fb1404bade4
142 rdf:type schema:PropertyValue
143 Ne7234a139bd149758b274b30b345c310 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
144 schema:name Humans
145 rdf:type schema:DefinedTerm
146 Nea4ad3a31418499698a2330eb4c4882b rdf:first sg:person.01244252030.49
147 rdf:rest Nd445209233ff473888aa7299dd069fc1
148 Nea625286313847909943111383b21f23 schema:name Division of Genetics and Development, Seattle, Washington, USA.
149 rdf:type schema:Organization
150 Nf3ae9701f1e74ff69d81832a4c1218ce schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
151 schema:name Polyendocrinopathies, Autoimmune
152 rdf:type schema:DefinedTerm
153 Nf61f03bc4bbf47b6888bdbbc15758d05 schema:name doi
154 schema:value 10.1038/83713
155 rdf:type schema:PropertyValue
156 Nf6cbaebb7c3f4558b03c3a79fb72b674 schema:name pubmed_id
157 schema:value 11137993
158 rdf:type schema:PropertyValue
159 Nf7b8dbedf4994b84a21273c2a28d056c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
160 schema:name Female
161 rdf:type schema:DefinedTerm
162 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
163 schema:name Biological Sciences
164 rdf:type schema:DefinedTerm
165 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
166 schema:name Genetics
167 rdf:type schema:DefinedTerm
168 sg:grant.2522879 http://pending.schema.org/fundedItem sg:pub.10.1038/83713
169 rdf:type schema:MonetaryGrant
170 sg:grant.2635442 http://pending.schema.org/fundedItem sg:pub.10.1038/83713
171 rdf:type schema:MonetaryGrant
172 sg:journal.1103138 schema:issn 1061-4036
173 1546-1718
174 schema:name Nature Genetics
175 rdf:type schema:Periodical
176 sg:person.01116250412.85 schema:affiliation https://www.grid.ac/institutes/grid.27755.32
177 schema:familyName Kelly
178 schema:givenName Thaddeus E.
179 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01116250412.85
180 rdf:type schema:Person
181 sg:person.01133243773.16 schema:affiliation N9b8ad0d6a2c145708c66c24f99e7491c
182 schema:familyName Brunkow
183 schema:givenName Mary E.
184 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01133243773.16
185 rdf:type schema:Person
186 sg:person.01207302115.25 schema:affiliation N877c17bbdf664375a81b33f04e273354
187 schema:familyName Ramsdell
188 schema:givenName Fred
189 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01207302115.25
190 rdf:type schema:Person
191 sg:person.01224060372.64 schema:affiliation Nb6dada5cf5724c6a8866c8fbec854e94
192 schema:familyName Chance
193 schema:givenName Phillip F.
194 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01224060372.64
195 rdf:type schema:Person
196 sg:person.01232242476.03 schema:affiliation https://www.grid.ac/institutes/grid.27755.32
197 schema:familyName Saulsbury
198 schema:givenName Frank T.
199 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01232242476.03
200 rdf:type schema:Person
201 sg:person.01237633263.53 schema:affiliation https://www.grid.ac/institutes/grid.34477.33
202 schema:familyName Christie
203 schema:givenName Jacinda
204 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01237633263.53
205 rdf:type schema:Person
206 sg:person.01244252030.49 schema:affiliation https://www.grid.ac/institutes/grid.265892.2
207 schema:familyName Ferguson
208 schema:givenName Polly J.
209 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01244252030.49
210 rdf:type schema:Person
211 sg:person.01351055147.31 schema:affiliation https://www.grid.ac/institutes/grid.34477.33
212 schema:familyName Ochs
213 schema:givenName Hans D.
214 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01351055147.31
215 rdf:type schema:Person
216 sg:person.0602273666.64 schema:affiliation Nea625286313847909943111383b21f23
217 schema:familyName Bennett
218 schema:givenName Craig L.
219 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0602273666.64
220 rdf:type schema:Person
221 sg:person.0642625314.83 schema:affiliation https://www.grid.ac/institutes/grid.134563.6
222 schema:familyName Whitesell
223 schema:givenName Luke
224 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0642625314.83
225 rdf:type schema:Person
226 sg:pub.10.1038/1294 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029730098
227 https://doi.org/10.1038/1294
228 rdf:type schema:CreativeWork
229 sg:pub.10.1038/493 schema:sameAs https://app.dimensions.ai/details/publication/pub.1006736186
230 https://doi.org/10.1038/493
231 rdf:type schema:CreativeWork
232 sg:pub.10.1038/83784 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032693504
233 https://doi.org/10.1038/83784
234 rdf:type schema:CreativeWork
235 sg:pub.10.1038/sj.ejhg.5200354 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007942567
236 https://doi.org/10.1038/sj.ejhg.5200354
237 rdf:type schema:CreativeWork
238 https://app.dimensions.ai/details/publication/pub.1074262600 schema:CreativeWork
239 https://app.dimensions.ai/details/publication/pub.1074599649 schema:CreativeWork
240 https://doi.org/10.1002/(sici)1096-8628(20000228)90:5<390::aid-ajmg9>3.0.co;2-m schema:sameAs https://app.dimensions.ai/details/publication/pub.1012352156
241 rdf:type schema:CreativeWork
242 https://doi.org/10.1016/s0022-3476(82)80573-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016168711
243 rdf:type schema:CreativeWork
244 https://doi.org/10.1073/pnas.87.7.2433 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030340499
245 rdf:type schema:CreativeWork
246 https://doi.org/10.1086/302109 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058609696
247 rdf:type schema:CreativeWork
248 https://doi.org/10.1086/302761 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058610321
249 rdf:type schema:CreativeWork
250 https://doi.org/10.4049/jimmunol.164.6.2915 schema:sameAs https://app.dimensions.ai/details/publication/pub.1074601204
251 rdf:type schema:CreativeWork
252 https://www.grid.ac/institutes/grid.134563.6 schema:alternateName University of Arizona
253 schema:name Department of Pediatrics, Steele Memorial Children's Research Center, University of Arizona, Tucson, Arizona, USA.
254 rdf:type schema:Organization
255 https://www.grid.ac/institutes/grid.265892.2 schema:alternateName University of Alabama at Birmingham
256 schema:name Department of Pediatrics, University of Alabama, Birmingham, Alabama, USA.
257 rdf:type schema:Organization
258 https://www.grid.ac/institutes/grid.27755.32 schema:alternateName University of Virginia
259 schema:name Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA.
260 rdf:type schema:Organization
261 https://www.grid.ac/institutes/grid.34477.33 schema:alternateName University of Washington
262 schema:name Division of Immunology, Infectious Disease and Rheumatology, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
263 rdf:type schema:Organization
 




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


...