Ontology type: schema:ScholarlyArticle
1992-02
AUTHORSMayada Tassabehji, Andrew P. Read, Valerie E. Newton, Rodney Harris, Rudi Balling, Peter Gruss, Tom Strachan
ABSTRACTWAARDENGURG'S syndrome (WS) is an autosomal dominant combination of deafness and pigmentary disturbances, probably caused by defective function of the embryonic neural crest1,2. We have mapped one gene for WS to the distal part of chromosome 2 (ref. 3). On the basis of their homologous chromosomal location, their close linkage to an alkaline phosphatase gene, and their related phenotype, we suggested that WS and the mouse mutant Splotch4,5 might be homologous. Splotch is caused by mutation in the mouse Pax-3 gene6,7. This gene is one of a family of eight Pax genes known in mice which are involved in regulating embryonic development; each contains a highly conserved transcription control sequence, the paired box8. Here we show that some families with WS have mutations in the human homologue9 of Pax-3. Mutations in a related gene, Pax-6, which, like Pax-3, has both a paired box and a paired-type homeobox sequence, cause the Small-eye mutation in mice10 and aniridia inman11. Thus mutations in the Pax genes are important causes of human developmental defects. More... »
PAGES635-636
http://scigraph.springernature.com/pub.10.1038/355635a0
DOIhttp://dx.doi.org/10.1038/355635a0
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1043244178
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/1347148
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/2008/06",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Biological Sciences",
"type": "DefinedTerm"
},
{
"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"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Amino Acid Sequence",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Base Sequence",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Chromosomes, Human, Pair 2",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "DNA Mutational Analysis",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "DNA-Binding Proteins",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Exons",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Female",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genes, Homeobox",
"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": "Molecular Sequence Data",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Mutation",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "PAX3 Transcription Factor",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Paired Box Transcription Factors",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Pedigree",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Polymerase Chain Reaction",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Sequence Homology, Nucleic Acid",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Transcription Factors",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Waardenburg Syndrome",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "University Department of Medical Genetics, St Mary's Hospital, M13 OJH, Manchester, UK",
"id": "http://www.grid.ac/institutes/grid.416523.7",
"name": [
"University Department of Medical Genetics, St Mary's Hospital, M13 OJH, Manchester, UK"
],
"type": "Organization"
},
"familyName": "Tassabehji",
"givenName": "Mayada",
"id": "sg:person.010473602234.67",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010473602234.67"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University Department of Medical Genetics, St Mary's Hospital, M13 OJH, Manchester, UK",
"id": "http://www.grid.ac/institutes/grid.416523.7",
"name": [
"University Department of Medical Genetics, St Mary's Hospital, M13 OJH, Manchester, UK"
],
"type": "Organization"
},
"familyName": "Read",
"givenName": "Andrew P.",
"id": "sg:person.01033040566.34",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01033040566.34"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Centre for Audiology, University of Manchester, Oxford Road, M13 9PL, Manchester, UK",
"id": "http://www.grid.ac/institutes/grid.5379.8",
"name": [
"Centre for Audiology, University of Manchester, Oxford Road, M13 9PL, Manchester, UK"
],
"type": "Organization"
},
"familyName": "Newton",
"givenName": "Valerie E.",
"id": "sg:person.0710071446.15",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0710071446.15"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University Department of Medical Genetics, St Mary's Hospital, M13 OJH, Manchester, UK",
"id": "http://www.grid.ac/institutes/grid.416523.7",
"name": [
"University Department of Medical Genetics, St Mary's Hospital, M13 OJH, Manchester, UK"
],
"type": "Organization"
},
"familyName": "Harris",
"givenName": "Rodney",
"id": "sg:person.01275554403.35",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01275554403.35"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Max Planck Institute for Immunobiology, D-7800, Freiburg, Germany",
"id": "http://www.grid.ac/institutes/None",
"name": [
"Max Planck Institute for Immunobiology, D-7800, Freiburg, Germany"
],
"type": "Organization"
},
"familyName": "Balling",
"givenName": "Rudi",
"id": "sg:person.0666115366.30",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0666115366.30"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Max Planck Institute for Biophysical Chemistry, D-3400, G\u00f6ttingen, Germany",
"id": "http://www.grid.ac/institutes/grid.418140.8",
"name": [
"Max Planck Institute for Biophysical Chemistry, D-3400, G\u00f6ttingen, Germany"
],
"type": "Organization"
},
"familyName": "Gruss",
"givenName": "Peter",
"id": "sg:person.01140172561.51",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01140172561.51"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University Department of Medical Genetics, St Mary's Hospital, M13 OJH, Manchester, UK",
"id": "http://www.grid.ac/institutes/grid.416523.7",
"name": [
"University Department of Medical Genetics, St Mary's Hospital, M13 OJH, Manchester, UK"
],
"type": "Organization"
},
"familyName": "Strachan",
"givenName": "Tom",
"id": "sg:person.01153104667.09",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01153104667.09"
],
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1038/354522a0",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1009379843",
"https://doi.org/10.1038/354522a0"
],
"type": "CreativeWork"
}
],
"datePublished": "1992-02",
"datePublishedReg": "1992-02-01",
"description": "WAARDENGURG'S syndrome (WS) is an autosomal dominant combination of deafness and pigmentary disturbances, probably caused by defective function of the embryonic neural crest1,2. We have mapped one gene for WS to the distal part of chromosome 2 (ref. 3). On the basis of their homologous chromosomal location, their close linkage to an alkaline phosphatase gene, and their related phenotype, we suggested that WS and the mouse mutant Splotch4,5 might be homologous. Splotch is caused by mutation in the mouse Pax-3 gene6,7. This gene is one of a family of eight Pax genes known in mice which are involved in regulating embryonic development; each contains a highly conserved transcription control sequence, the paired box8. Here we show that some families with WS have mutations in the human homologue9 of Pax-3. Mutations in a related gene, Pax-6, which, like Pax-3, has both a paired box and a paired-type homeobox sequence, cause the Small-eye mutation in mice10 and aniridia inman11. Thus mutations in the Pax genes are important causes of human developmental defects.",
"genre": "article",
"id": "sg:pub.10.1038/355635a0",
"inLanguage": "en",
"isAccessibleForFree": false,
"isPartOf": [
{
"id": "sg:journal.1018957",
"issn": [
"0028-0836",
"1476-4687"
],
"name": "Nature",
"publisher": "Springer Nature",
"type": "Periodical"
},
{
"issueNumber": "6361",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "355"
}
],
"keywords": [
"Pax-3",
"Pax genes",
"homologous chromosomal locations",
"transcription control sequences",
"alkaline phosphatase gene",
"Small eye mutation",
"human developmental defects",
"box genes",
"homeobox sequences",
"chromosomal location",
"phosphatase gene",
"embryonic development",
"chromosome 2",
"human homologue",
"Pax-6",
"mouse mutants",
"related genes",
"developmental defects",
"genes",
"close linkage",
"mutations",
"defective function",
"sequence",
"mutants",
"family",
"homologues",
"control sequence",
"phenotype",
"splotches",
"syndrome patients",
"distal part",
"dominant combination",
"linkage",
"mice",
"box",
"pigmentary disturbances",
"function",
"defects",
"deafness",
"development",
"basis",
"disturbances",
"location",
"combination",
"important cause",
"part",
"syndrome",
"cause",
"patients"
],
"name": "Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene",
"pagination": "635-636",
"productId": [
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1043244178"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1038/355635a0"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"1347148"
]
}
],
"sameAs": [
"https://doi.org/10.1038/355635a0",
"https://app.dimensions.ai/details/publication/pub.1043244178"
],
"sdDataset": "articles",
"sdDatePublished": "2022-05-10T09:48",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-springernature-scigraph/baseset/20220509/entities/gbq_results/article/article_261.jsonl",
"type": "ScholarlyArticle",
"url": "https://doi.org/10.1038/355635a0"
}
]Download the RDF metadata as: json-ld nt turtle xml License info
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.10.1038/355635a0'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/355635a0'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/355635a0'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/355635a0'
This table displays all metadata directly associated to this object as RDF triples.
246 TRIPLES
22 PREDICATES
97 URIs
88 LITERALS
27 BLANK NODES