Ontology type: schema:ScholarlyArticle
1999-08
AUTHORSA W Monreal, B M Ferguson, D J Headon, S L Street, P A Overbeek, J Zonana
ABSTRACTX-linked hypohidrotic ectodermal dysplasia results in abnormal morphogenesis of teeth, hair and eccrine sweat glands. The gene (ED1) responsible for the disorder has been identified, as well as the analogous X-linked gene (Ta) in the mouse. Autosomal recessive disorders, phenotypically indistinguishable from the X-linked forms, exist in humans and at two separate loci (crinkled, cr, and downless, dl) in mice. Dominant disorders, possibly allelic to the recessive loci, are seen in both species (ED3, Dlslk). A candidate gene has recently been identified at the dl locus that is mutated in both dl and Dlslk mutant alleles. We isolated and characterized its human DL homologue, and identified mutations in three families displaying recessive inheritance and two with dominant inheritance. The disorder does not map to the candidate gene locus in all autosomal recessive families, implying the existence of at least one additional human locus. The putative protein is predicted to have a single transmembrane domain, and shows similarity to two separate domains of the tumour necrosis factor receptor (TNFR) family. More... »
PAGES366-369
http://scigraph.springernature.com/pub.10.1038/11937
DOIhttp://dx.doi.org/10.1038/11937
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1052497894
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/10431241
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": "Alleles",
"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": "Ectodermal Dysplasia",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Edar Receptor",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Female",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genes, Dominant",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genes, Recessive",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genetic Markers",
"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": "Membrane Proteins",
"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": "Physical Chromosome Mapping",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Receptors, Ectodysplasin",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Receptors, Tumor Necrosis Factor",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Sequence Homology, Amino Acid",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Tissue Distribution",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Oregon Health & Science University",
"id": "https://www.grid.ac/institutes/grid.5288.7",
"name": [
"Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201, USA."
],
"type": "Organization"
},
"familyName": "Monreal",
"givenName": "A W",
"id": "sg:person.0657064506.83",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0657064506.83"
],
"type": "Person"
},
{
"familyName": "Ferguson",
"givenName": "B M",
"id": "sg:person.01064277070.63",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01064277070.63"
],
"type": "Person"
},
{
"familyName": "Headon",
"givenName": "D J",
"id": "sg:person.01352265475.67",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01352265475.67"
],
"type": "Person"
},
{
"familyName": "Street",
"givenName": "S L",
"id": "sg:person.01034236277.31",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01034236277.31"
],
"type": "Person"
},
{
"familyName": "Overbeek",
"givenName": "P A",
"id": "sg:person.0614034767.46",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0614034767.46"
],
"type": "Person"
},
{
"familyName": "Zonana",
"givenName": "J",
"id": "sg:person.0633476100.76",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0633476100.76"
],
"type": "Person"
}
],
"citation": [
{
"id": "https://doi.org/10.1093/hmg/7.11.1661",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1003822294"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1006/geno.1996.0268",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1004828412"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/nar/25.4.888",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1007276814"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1101/gr.1.1.39",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1008847627"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/hmg/5.3.339",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1009108975"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s003359900884",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1014809196",
"https://doi.org/10.1007/s003359900884"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/978-3-642-80460-1_10",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1019729606",
"https://doi.org/10.1007/978-3-642-80460-1_10"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/jmg.35.2.112",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1020746694"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1136/jmg.24.11.659",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1024374796"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0092-8674(94)90372-7",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1026987782"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/11943",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1027133757",
"https://doi.org/10.1038/11943"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/11943",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1027133757",
"https://doi.org/10.1038/11943"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng0895-409",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1027503618",
"https://doi.org/10.1038/ng0895-409"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0968-0004(97)01164-x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1029996856"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1006/geno.1995.1272",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032562050"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/s0022-3476(98)70102-7",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1032699289"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/hmg/6.9.1589",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1033065623"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1073/pnas.94.24.13069",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1037567305"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0092-8674(95)90013-6",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1038358151"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1016/0076-6879(93)18026-9",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1047812299"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/nar/16.11.4927",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1051169959"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/301839",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1058609444"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/301984",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1058609576"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/302239",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1058609820"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1086/513905",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1058789146"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1093/hmg/1.6.407",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1059643923"
],
"type": "CreativeWork"
},
{
"id": "https://doi.org/10.1126/science.282.5389.744",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1062562946"
],
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1075468022",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1075850228",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1079740740",
"type": "CreativeWork"
},
{
"id": "https://app.dimensions.ai/details/publication/pub.1083044263",
"type": "CreativeWork"
}
],
"datePublished": "1999-08",
"datePublishedReg": "1999-08-01",
"description": "X-linked hypohidrotic ectodermal dysplasia results in abnormal morphogenesis of teeth, hair and eccrine sweat glands. The gene (ED1) responsible for the disorder has been identified, as well as the analogous X-linked gene (Ta) in the mouse. Autosomal recessive disorders, phenotypically indistinguishable from the X-linked forms, exist in humans and at two separate loci (crinkled, cr, and downless, dl) in mice. Dominant disorders, possibly allelic to the recessive loci, are seen in both species (ED3, Dlslk). A candidate gene has recently been identified at the dl locus that is mutated in both dl and Dlslk mutant alleles. We isolated and characterized its human DL homologue, and identified mutations in three families displaying recessive inheritance and two with dominant inheritance. The disorder does not map to the candidate gene locus in all autosomal recessive families, implying the existence of at least one additional human locus. The putative protein is predicted to have a single transmembrane domain, and shows similarity to two separate domains of the tumour necrosis factor receptor (TNFR) family.",
"genre": "research_article",
"id": "sg:pub.10.1038/11937",
"inLanguage": [
"en"
],
"isAccessibleForFree": false,
"isFundedItemOf": [
{
"id": "sg:grant.2490342",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2463813",
"type": "MonetaryGrant"
}
],
"isPartOf": [
{
"id": "sg:journal.1103138",
"issn": [
"1061-4036",
"1546-1718"
],
"name": "Nature Genetics",
"type": "Periodical"
},
{
"issueNumber": "4",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "22"
}
],
"name": "Mutations in the human homologue of mouse dl cause autosomal recessive\nand dominant hypohidrotic ectodermal dysplasia",
"pagination": "366-369",
"productId": [
{
"name": "readcube_id",
"type": "PropertyValue",
"value": [
"fa10a95ce50e737cbd3099a80fe42f4b9dbcbe80b712c913dbde014049a9c395"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"10431241"
]
},
{
"name": "nlm_unique_id",
"type": "PropertyValue",
"value": [
"9216904"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1038/11937"
]
},
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1052497894"
]
}
],
"sameAs": [
"https://doi.org/10.1038/11937",
"https://app.dimensions.ai/details/publication/pub.1052497894"
],
"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_87106_00000001.jsonl",
"type": "ScholarlyArticle",
"url": "http://www.nature.com/ng/journal/v22/n4/full/ng0899_366.html"
}
]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.10.1038/11937'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/11937'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/11937'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/11937'
This table displays all metadata directly associated to this object as RDF triples.
277 TRIPLES
21 PREDICATES
80 URIs
42 LITERALS
30 BLANK NODES