CXorf6 is a causative gene for hypospadias View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2006-12

AUTHORS

Maki Fukami, Yuka Wada, Kanako Miyabayashi, Ichizo Nishino, Tomonobu Hasegawa, Agneta Nordenskjöld, Giovanna Camerino, Christine Kretz, Anna Buj-Bello, Jocelyn Laporte, Yamada, Ken-ichirou Morohashi, Tsutomu Ogata

ABSTRACT

46,XY disorders of sex development (DSD) refer to a wide range of abnormal genitalia, including hypospadias, which affects approximately 0.5% of male newborns. We identified three different nonsense mutations of CXorf6 in individuals with hypospadias and found that its mouse homolog was specifically expressed in fetal Sertoli and Leydig cells around the critical period for sex development. These data imply that CXorf6 is a causative gene for hypospadias. More... »

PAGES

1369-1371

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1900

DOI

http://dx.doi.org/10.1038/ng1900

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1029438762

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/17086185


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": "Animals", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Base Sequence", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Chromosomes, Human, X", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Codon, Nonsense", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Gene Expression Regulation, Developmental", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Hypospadias", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "In Situ Hybridization", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Infant, Newborn", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mice", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Open Reading Frames", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pedigree", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pregnancy", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sex Differentiation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Testis", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "National Center For Child Health and Development", 
          "id": "https://www.grid.ac/institutes/grid.63906.3a", 
          "name": [
            "Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fukami", 
        "givenName": "Maki", 
        "id": "sg:person.0773240517.43", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773240517.43"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Center For Child Health and Development", 
          "id": "https://www.grid.ac/institutes/grid.63906.3a", 
          "name": [
            "Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wada", 
        "givenName": "Yuka", 
        "id": "sg:person.0672114437.26", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0672114437.26"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Institute for Basic Biology", 
          "id": "https://www.grid.ac/institutes/grid.419396.0", 
          "name": [
            "Division for Sex Differentiation, National Institute for Basic Biology, Okazaki 444-8787, Japan."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Miyabayashi", 
        "givenName": "Kanako", 
        "id": "sg:person.01352000215.39", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01352000215.39"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Center of Neurology and Psychiatry", 
          "id": "https://www.grid.ac/institutes/grid.419280.6", 
          "name": [
            "Department of Neuromuscular Research, National Institute of Neuroscience, Kodaira 187-8502, Japan."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nishino", 
        "givenName": "Ichizo", 
        "id": "sg:person.01155343151.38", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01155343151.38"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Keio University", 
          "id": "https://www.grid.ac/institutes/grid.26091.3c", 
          "name": [
            "Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hasegawa", 
        "givenName": "Tomonobu", 
        "id": "sg:person.015132016752.36", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015132016752.36"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Karolinska University Hospital", 
          "id": "https://www.grid.ac/institutes/grid.24381.3c", 
          "name": [
            "Department of Molecular Medicine and Surgery, Karolinska University Hospital, Stockholm, Sweden."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Nordenskj\u00f6ld", 
        "givenName": "Agneta", 
        "id": "sg:person.0766610241.28", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0766610241.28"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Pavia", 
          "id": "https://www.grid.ac/institutes/grid.8982.b", 
          "name": [
            "Dipartimento di Patologia Umana ed Ereditaria, Sezione di Biologia Generale e Genetica Medica, Universita di Pavia, Pavia 27100, Italia."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Camerino", 
        "givenName": "Giovanna", 
        "id": "sg:person.01063350710.01", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01063350710.01"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institute of Genetics and Molecular and Cellular Biology", 
          "id": "https://www.grid.ac/institutes/grid.420255.4", 
          "name": [
            "Department of Molecular Pathology, Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire, Illkirch 67404, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kretz", 
        "givenName": "Christine", 
        "id": "sg:person.0717456355.59", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717456355.59"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institute of Genetics and Molecular and Cellular Biology", 
          "id": "https://www.grid.ac/institutes/grid.420255.4", 
          "name": [
            "Department of Molecular Pathology, Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire, Illkirch 67404, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Buj-Bello", 
        "givenName": "Anna", 
        "id": "sg:person.0717044011.73", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717044011.73"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institute of Genetics and Molecular and Cellular Biology", 
          "id": "https://www.grid.ac/institutes/grid.420255.4", 
          "name": [
            "Department of Molecular Pathology, Institut de G\u00e9n\u00e9tique et de Biologie Mol\u00e9culaire et Cellulaire, Illkirch 67404, France."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Laporte", 
        "givenName": "Jocelyn", 
        "id": "sg:person.01021157115.35", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01021157115.35"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Kumamoto University", 
          "id": "https://www.grid.ac/institutes/grid.274841.c", 
          "name": [
            "Center for Animal Resources and Development, Kumamoto University School of Medicine, Kumamoto 860-0811, Japan."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Yamada", 
        "id": "sg:person.0775011131.46", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0775011131.46"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Institute for Basic Biology", 
          "id": "https://www.grid.ac/institutes/grid.419396.0", 
          "name": [
            "Division for Sex Differentiation, National Institute for Basic Biology, Okazaki 444-8787, Japan."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Morohashi", 
        "givenName": "Ken-ichirou", 
        "id": "sg:person.0707410344.13", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0707410344.13"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "National Center For Child Health and Development", 
          "id": "https://www.grid.ac/institutes/grid.63906.3a", 
          "name": [
            "Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ogata", 
        "givenName": "Tsutomu", 
        "id": "sg:person.01261555724.86", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01261555724.86"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1093/hmg/5.1.139", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002521697"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/hmg/6.9.1505", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015238798"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000015284", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1023852627"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.nmd.2004.12.005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027477555"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1006/geno.1997.4662", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044108904"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0092-8674(00)80542-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048757016"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/oxfordjournals.jbchem.a022083", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1059960884"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1210/jcem-42-4-679", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064309235"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-002-0869-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1075216130", 
          "https://doi.org/10.1007/s00439-002-0869-1"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-002-0869-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1075216130", 
          "https://doi.org/10.1007/s00439-002-0869-1"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2006-12", 
    "datePublishedReg": "2006-12-01", 
    "description": "46,XY disorders of sex development (DSD) refer to a wide range of abnormal genitalia, including hypospadias, which affects approximately 0.5% of male newborns. We identified three different nonsense mutations of CXorf6 in individuals with hypospadias and found that its mouse homolog was specifically expressed in fetal Sertoli and Leydig cells around the critical period for sex development. These data imply that CXorf6 is a causative gene for hypospadias.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/ng1900", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.5895309", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.5883305", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1103138", 
        "issn": [
          "1061-4036", 
          "1546-1718"
        ], 
        "name": "Nature Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "12", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "38"
      }
    ], 
    "name": "CXorf6 is a causative gene for hypospadias", 
    "pagination": "1369-1371", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "8c3d99d79be813f0c8611316c1d51dcd1cc846844e85db3cbd0c727a8e3a5d2d"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "17086185"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "9216904"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ng1900"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1029438762"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ng1900", 
      "https://app.dimensions.ai/details/publication/pub.1029438762"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T12:25", 
    "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_87104_00000001.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/articles/ng1900"
  }
]
 

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/ng1900'

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/ng1900'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng1900'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng1900'


 

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

277 TRIPLES      21 PREDICATES      56 URIs      39 LITERALS      27 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ng1900 schema:about N003177210c494a3a8ee964a0e979bf60
2 N0c56dd98627c4fea8a2f1b4859391908
3 N294b91005fc8461d9048db53db2d9b7e
4 N3407e07ddf6d41d7829b0aed05a01353
5 N35e677d570434ce2a97874185b1bd23c
6 N378ca14e9e2d4a0a97b0c96ab295dc41
7 N3875fe14ea034fa7a26e88c7661eeff2
8 N6ab9bce819f94f30afe2079f4fe240d6
9 N6c8cb275c22c4a37866a7598061817e0
10 N9811338517ed447b97ab8142d3621d1f
11 Na2969b4fd42b4930b8965abdc512d5e8
12 Nafcdf39321d74a41a265294e6caf6830
13 Nb17b0099f3d649b6a63d3f33c16c9f20
14 Nb55c033abaa6470d807a67aa23b4e09c
15 Nb8b218b844ac4cbd8008e06f28ba3689
16 Nbb537cd55e90405b987e1a698029df43
17 Ne24d4ccdc2864f51aea97e04a7f17d00
18 Nf4bab218768243059fa37a5ff251bb08
19 anzsrc-for:06
20 anzsrc-for:0604
21 schema:author N4f063662fa3b4dbd993112ffdd8206db
22 schema:citation sg:pub.10.1007/s00439-002-0869-1
23 https://doi.org/10.1006/geno.1997.4662
24 https://doi.org/10.1016/j.nmd.2004.12.005
25 https://doi.org/10.1016/s0092-8674(00)80542-5
26 https://doi.org/10.1093/hmg/5.1.139
27 https://doi.org/10.1093/hmg/6.9.1505
28 https://doi.org/10.1093/oxfordjournals.jbchem.a022083
29 https://doi.org/10.1159/000015284
30 https://doi.org/10.1210/jcem-42-4-679
31 schema:datePublished 2006-12
32 schema:datePublishedReg 2006-12-01
33 schema:description 46,XY disorders of sex development (DSD) refer to a wide range of abnormal genitalia, including hypospadias, which affects approximately 0.5% of male newborns. We identified three different nonsense mutations of CXorf6 in individuals with hypospadias and found that its mouse homolog was specifically expressed in fetal Sertoli and Leydig cells around the critical period for sex development. These data imply that CXorf6 is a causative gene for hypospadias.
34 schema:genre research_article
35 schema:inLanguage en
36 schema:isAccessibleForFree false
37 schema:isPartOf N2f2d47e49e25408cbd28d19cf5773be2
38 N32d1817f2e974161a3ee37044507ee69
39 sg:journal.1103138
40 schema:name CXorf6 is a causative gene for hypospadias
41 schema:pagination 1369-1371
42 schema:productId N1597d3b323e94a9b835d955c8d45bffe
43 N49f30a44e8ae4c6581191e2d26303082
44 N8e086325ca9b4349833e593f007961fc
45 N96f8e0569add42218e25169ca4a5c8c1
46 Na4a82ca1ab49422d92680d179fa4f2c4
47 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029438762
48 https://doi.org/10.1038/ng1900
49 schema:sdDatePublished 2019-04-11T12:25
50 schema:sdLicense https://scigraph.springernature.com/explorer/license/
51 schema:sdPublisher N8ca80b6d593d4208bf1ae21f5a0cb83a
52 schema:url http://www.nature.com/articles/ng1900
53 sgo:license sg:explorer/license/
54 sgo:sdDataset articles
55 rdf:type schema:ScholarlyArticle
56 N003177210c494a3a8ee964a0e979bf60 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
57 schema:name Male
58 rdf:type schema:DefinedTerm
59 N0c56dd98627c4fea8a2f1b4859391908 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
60 schema:name Infant, Newborn
61 rdf:type schema:DefinedTerm
62 N1597d3b323e94a9b835d955c8d45bffe schema:name readcube_id
63 schema:value 8c3d99d79be813f0c8611316c1d51dcd1cc846844e85db3cbd0c727a8e3a5d2d
64 rdf:type schema:PropertyValue
65 N1f999094c18746f7b2971efa0ab1b7c6 rdf:first sg:person.01063350710.01
66 rdf:rest N3591f799f2bd431f917e9110773de0e6
67 N20595b3d526a43d3b4d9854abd35d3cb rdf:first sg:person.015132016752.36
68 rdf:rest N96e42d464a284520b3ff0e66460e6cca
69 N294b91005fc8461d9048db53db2d9b7e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
70 schema:name Mice
71 rdf:type schema:DefinedTerm
72 N2f2d47e49e25408cbd28d19cf5773be2 schema:issueNumber 12
73 rdf:type schema:PublicationIssue
74 N32d1817f2e974161a3ee37044507ee69 schema:volumeNumber 38
75 rdf:type schema:PublicationVolume
76 N3407e07ddf6d41d7829b0aed05a01353 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
77 schema:name Codon, Nonsense
78 rdf:type schema:DefinedTerm
79 N3591f799f2bd431f917e9110773de0e6 rdf:first sg:person.0717456355.59
80 rdf:rest N5f70a9688de74d588fb2aa635c8967b8
81 N35e677d570434ce2a97874185b1bd23c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
82 schema:name In Situ Hybridization
83 rdf:type schema:DefinedTerm
84 N378ca14e9e2d4a0a97b0c96ab295dc41 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
85 schema:name Humans
86 rdf:type schema:DefinedTerm
87 N3875fe14ea034fa7a26e88c7661eeff2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
88 schema:name DNA
89 rdf:type schema:DefinedTerm
90 N49f30a44e8ae4c6581191e2d26303082 schema:name nlm_unique_id
91 schema:value 9216904
92 rdf:type schema:PropertyValue
93 N4f063662fa3b4dbd993112ffdd8206db rdf:first sg:person.0773240517.43
94 rdf:rest N77f88f722f2d46fca974fee0be3c4b87
95 N5b5ebb5ac74b4e3d985506f0faf4579e rdf:first sg:person.01352000215.39
96 rdf:rest Nb3ff1900acce436098ebe1475789e9f8
97 N5f70a9688de74d588fb2aa635c8967b8 rdf:first sg:person.0717044011.73
98 rdf:rest N9bda1deb1d174ac9b0e636f6631f23f5
99 N6ab9bce819f94f30afe2079f4fe240d6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
100 schema:name Chromosomes, Human, X
101 rdf:type schema:DefinedTerm
102 N6c8cb275c22c4a37866a7598061817e0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
103 schema:name Open Reading Frames
104 rdf:type schema:DefinedTerm
105 N702b701d30074e139882ea953b4e20a5 rdf:first sg:person.0707410344.13
106 rdf:rest Nb0b35180c3af47218d176269344f4c7f
107 N77f88f722f2d46fca974fee0be3c4b87 rdf:first sg:person.0672114437.26
108 rdf:rest N5b5ebb5ac74b4e3d985506f0faf4579e
109 N8ca80b6d593d4208bf1ae21f5a0cb83a schema:name Springer Nature - SN SciGraph project
110 rdf:type schema:Organization
111 N8e086325ca9b4349833e593f007961fc schema:name doi
112 schema:value 10.1038/ng1900
113 rdf:type schema:PropertyValue
114 N96e42d464a284520b3ff0e66460e6cca rdf:first sg:person.0766610241.28
115 rdf:rest N1f999094c18746f7b2971efa0ab1b7c6
116 N96f8e0569add42218e25169ca4a5c8c1 schema:name dimensions_id
117 schema:value pub.1029438762
118 rdf:type schema:PropertyValue
119 N9811338517ed447b97ab8142d3621d1f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
120 schema:name Gene Expression Regulation, Developmental
121 rdf:type schema:DefinedTerm
122 N9bda1deb1d174ac9b0e636f6631f23f5 rdf:first sg:person.01021157115.35
123 rdf:rest Nc1b77b75cace489a8576775551850cd1
124 Na2969b4fd42b4930b8965abdc512d5e8 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
125 schema:name Pregnancy
126 rdf:type schema:DefinedTerm
127 Na4a82ca1ab49422d92680d179fa4f2c4 schema:name pubmed_id
128 schema:value 17086185
129 rdf:type schema:PropertyValue
130 Nafcdf39321d74a41a265294e6caf6830 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
131 schema:name Animals
132 rdf:type schema:DefinedTerm
133 Nb0b35180c3af47218d176269344f4c7f rdf:first sg:person.01261555724.86
134 rdf:rest rdf:nil
135 Nb17b0099f3d649b6a63d3f33c16c9f20 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
136 schema:name Pedigree
137 rdf:type schema:DefinedTerm
138 Nb3ff1900acce436098ebe1475789e9f8 rdf:first sg:person.01155343151.38
139 rdf:rest N20595b3d526a43d3b4d9854abd35d3cb
140 Nb55c033abaa6470d807a67aa23b4e09c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
141 schema:name Sex Differentiation
142 rdf:type schema:DefinedTerm
143 Nb8b218b844ac4cbd8008e06f28ba3689 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
144 schema:name Female
145 rdf:type schema:DefinedTerm
146 Nbb537cd55e90405b987e1a698029df43 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
147 schema:name Hypospadias
148 rdf:type schema:DefinedTerm
149 Nc1b77b75cace489a8576775551850cd1 rdf:first sg:person.0775011131.46
150 rdf:rest N702b701d30074e139882ea953b4e20a5
151 Ne24d4ccdc2864f51aea97e04a7f17d00 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
152 schema:name Testis
153 rdf:type schema:DefinedTerm
154 Nf4bab218768243059fa37a5ff251bb08 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
155 schema:name Base Sequence
156 rdf:type schema:DefinedTerm
157 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
158 schema:name Biological Sciences
159 rdf:type schema:DefinedTerm
160 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
161 schema:name Genetics
162 rdf:type schema:DefinedTerm
163 sg:grant.5883305 http://pending.schema.org/fundedItem sg:pub.10.1038/ng1900
164 rdf:type schema:MonetaryGrant
165 sg:grant.5895309 http://pending.schema.org/fundedItem sg:pub.10.1038/ng1900
166 rdf:type schema:MonetaryGrant
167 sg:journal.1103138 schema:issn 1061-4036
168 1546-1718
169 schema:name Nature Genetics
170 rdf:type schema:Periodical
171 sg:person.01021157115.35 schema:affiliation https://www.grid.ac/institutes/grid.420255.4
172 schema:familyName Laporte
173 schema:givenName Jocelyn
174 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01021157115.35
175 rdf:type schema:Person
176 sg:person.01063350710.01 schema:affiliation https://www.grid.ac/institutes/grid.8982.b
177 schema:familyName Camerino
178 schema:givenName Giovanna
179 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01063350710.01
180 rdf:type schema:Person
181 sg:person.01155343151.38 schema:affiliation https://www.grid.ac/institutes/grid.419280.6
182 schema:familyName Nishino
183 schema:givenName Ichizo
184 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01155343151.38
185 rdf:type schema:Person
186 sg:person.01261555724.86 schema:affiliation https://www.grid.ac/institutes/grid.63906.3a
187 schema:familyName Ogata
188 schema:givenName Tsutomu
189 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01261555724.86
190 rdf:type schema:Person
191 sg:person.01352000215.39 schema:affiliation https://www.grid.ac/institutes/grid.419396.0
192 schema:familyName Miyabayashi
193 schema:givenName Kanako
194 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01352000215.39
195 rdf:type schema:Person
196 sg:person.015132016752.36 schema:affiliation https://www.grid.ac/institutes/grid.26091.3c
197 schema:familyName Hasegawa
198 schema:givenName Tomonobu
199 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015132016752.36
200 rdf:type schema:Person
201 sg:person.0672114437.26 schema:affiliation https://www.grid.ac/institutes/grid.63906.3a
202 schema:familyName Wada
203 schema:givenName Yuka
204 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0672114437.26
205 rdf:type schema:Person
206 sg:person.0707410344.13 schema:affiliation https://www.grid.ac/institutes/grid.419396.0
207 schema:familyName Morohashi
208 schema:givenName Ken-ichirou
209 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0707410344.13
210 rdf:type schema:Person
211 sg:person.0717044011.73 schema:affiliation https://www.grid.ac/institutes/grid.420255.4
212 schema:familyName Buj-Bello
213 schema:givenName Anna
214 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717044011.73
215 rdf:type schema:Person
216 sg:person.0717456355.59 schema:affiliation https://www.grid.ac/institutes/grid.420255.4
217 schema:familyName Kretz
218 schema:givenName Christine
219 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0717456355.59
220 rdf:type schema:Person
221 sg:person.0766610241.28 schema:affiliation https://www.grid.ac/institutes/grid.24381.3c
222 schema:familyName Nordenskjöld
223 schema:givenName Agneta
224 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0766610241.28
225 rdf:type schema:Person
226 sg:person.0773240517.43 schema:affiliation https://www.grid.ac/institutes/grid.63906.3a
227 schema:familyName Fukami
228 schema:givenName Maki
229 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0773240517.43
230 rdf:type schema:Person
231 sg:person.0775011131.46 schema:affiliation https://www.grid.ac/institutes/grid.274841.c
232 schema:familyName Yamada
233 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0775011131.46
234 rdf:type schema:Person
235 sg:pub.10.1007/s00439-002-0869-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1075216130
236 https://doi.org/10.1007/s00439-002-0869-1
237 rdf:type schema:CreativeWork
238 https://doi.org/10.1006/geno.1997.4662 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044108904
239 rdf:type schema:CreativeWork
240 https://doi.org/10.1016/j.nmd.2004.12.005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027477555
241 rdf:type schema:CreativeWork
242 https://doi.org/10.1016/s0092-8674(00)80542-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048757016
243 rdf:type schema:CreativeWork
244 https://doi.org/10.1093/hmg/5.1.139 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002521697
245 rdf:type schema:CreativeWork
246 https://doi.org/10.1093/hmg/6.9.1505 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015238798
247 rdf:type schema:CreativeWork
248 https://doi.org/10.1093/oxfordjournals.jbchem.a022083 schema:sameAs https://app.dimensions.ai/details/publication/pub.1059960884
249 rdf:type schema:CreativeWork
250 https://doi.org/10.1159/000015284 schema:sameAs https://app.dimensions.ai/details/publication/pub.1023852627
251 rdf:type schema:CreativeWork
252 https://doi.org/10.1210/jcem-42-4-679 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064309235
253 rdf:type schema:CreativeWork
254 https://www.grid.ac/institutes/grid.24381.3c schema:alternateName Karolinska University Hospital
255 schema:name Department of Molecular Medicine and Surgery, Karolinska University Hospital, Stockholm, Sweden.
256 rdf:type schema:Organization
257 https://www.grid.ac/institutes/grid.26091.3c schema:alternateName Keio University
258 schema:name Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan.
259 rdf:type schema:Organization
260 https://www.grid.ac/institutes/grid.274841.c schema:alternateName Kumamoto University
261 schema:name Center for Animal Resources and Development, Kumamoto University School of Medicine, Kumamoto 860-0811, Japan.
262 rdf:type schema:Organization
263 https://www.grid.ac/institutes/grid.419280.6 schema:alternateName National Center of Neurology and Psychiatry
264 schema:name Department of Neuromuscular Research, National Institute of Neuroscience, Kodaira 187-8502, Japan.
265 rdf:type schema:Organization
266 https://www.grid.ac/institutes/grid.419396.0 schema:alternateName National Institute for Basic Biology
267 schema:name Division for Sex Differentiation, National Institute for Basic Biology, Okazaki 444-8787, Japan.
268 rdf:type schema:Organization
269 https://www.grid.ac/institutes/grid.420255.4 schema:alternateName Institute of Genetics and Molecular and Cellular Biology
270 schema:name Department of Molecular Pathology, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67404, France.
271 rdf:type schema:Organization
272 https://www.grid.ac/institutes/grid.63906.3a schema:alternateName National Center For Child Health and Development
273 schema:name Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.
274 rdf:type schema:Organization
275 https://www.grid.ac/institutes/grid.8982.b schema:alternateName University of Pavia
276 schema:name Dipartimento di Patologia Umana ed Ereditaria, Sezione di Biologia Generale e Genetica Medica, Universita di Pavia, Pavia 27100, Italia.
277 rdf:type schema:Organization
 




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


...