Ontology type: schema:ScholarlyArticle
1997-09
AUTHORSI. Hatada, Akira Nabetani, Hiroko Morisaki, Zhenghan Xin, Sachiko Ohishi, Hidefumi Tonoki, Norio Niikawa, Masahiro Inoue, Yosuke Komoto, Akira Okada, Elisabeth Steichen, Hirofumi Ohashi, Yoshimitsu Fukushima, Masahiro Nakayama, Tsunehiro Mukai
ABSTRACTBeckwith-Wiedemann syndrome (BWS) is characterized by numerous growth abnormalities and an increased risk of childhood tumors. The gene for BWS is localized in the 11p15.5 region, as determined by linkage analysis of autosomal dominant pedigrees. The increased maternal transmission pattern seen in the autosomal dominant-type pedigrees and the findings of paternal uniparental disomy reported for a subgroup of patients indicate that the gene for BWS is imprinted. Previously, we found p57KIP2, which is a Cdk-kinase inhibitor located at 11p15, is mutated in two BWS patients. Here, we screened for the mutation of the gene in 15 BWS patients. More... »
PAGES681-683
http://scigraph.springernature.com/pub.10.1007/s004390050573
DOIhttp://dx.doi.org/10.1007/s004390050573
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1023574549
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/9341892
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": "Austria",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Beckwith-Wiedemann Syndrome",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Chromosomes, Human, Pair 11",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Cyclin-Dependent Kinase Inhibitor p57",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Female",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Frameshift Mutation",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Genetic Testing",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Humans",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Infant, Newborn",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Japan",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Male",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Nuclear Proteins",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Point Mutation",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, Suita, Osaka 565, Japan e-mail: hatada@ri.ncvc.go.jp, JP",
"id": "http://www.grid.ac/institutes/grid.410796.d",
"name": [
"National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, Suita, Osaka 565, Japan e-mail: hatada@ri.ncvc.go.jp, JP"
],
"type": "Organization"
},
"familyName": "Hatada",
"givenName": "I.",
"id": "sg:person.01322014455.38",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01322014455.38"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, Suita, Osaka 565, Japan e-mail: hatada@ri.ncvc.go.jp, JP",
"id": "http://www.grid.ac/institutes/grid.410796.d",
"name": [
"National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, Suita, Osaka 565, Japan e-mail: hatada@ri.ncvc.go.jp, JP"
],
"type": "Organization"
},
"familyName": "Nabetani",
"givenName": "Akira",
"id": "sg:person.012752433721.62",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012752433721.62"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, Suita, Osaka 565, Japan e-mail: hatada@ri.ncvc.go.jp, JP",
"id": "http://www.grid.ac/institutes/grid.410796.d",
"name": [
"National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, Suita, Osaka 565, Japan e-mail: hatada@ri.ncvc.go.jp, JP"
],
"type": "Organization"
},
"familyName": "Morisaki",
"givenName": "Hiroko",
"id": "sg:person.01065206234.75",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01065206234.75"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, Suita, Osaka 565, Japan e-mail: hatada@ri.ncvc.go.jp, JP",
"id": "http://www.grid.ac/institutes/grid.410796.d",
"name": [
"National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, Suita, Osaka 565, Japan e-mail: hatada@ri.ncvc.go.jp, JP"
],
"type": "Organization"
},
"familyName": "Xin",
"givenName": "Zhenghan",
"id": "sg:person.01155170405.22",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01155170405.22"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, Suita, Osaka 565, Japan e-mail: hatada@ri.ncvc.go.jp, JP",
"id": "http://www.grid.ac/institutes/grid.410796.d",
"name": [
"National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, Suita, Osaka 565, Japan e-mail: hatada@ri.ncvc.go.jp, JP"
],
"type": "Organization"
},
"familyName": "Ohishi",
"givenName": "Sachiko",
"id": "sg:person.01075504015.49",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01075504015.49"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Hokkaido University School of Medicine, N-15, W-7, Sapporo 060, Japan, JP",
"id": "http://www.grid.ac/institutes/grid.39158.36",
"name": [
"Hokkaido University School of Medicine, N-15, W-7, Sapporo 060, Japan, JP"
],
"type": "Organization"
},
"familyName": "Tonoki",
"givenName": "Hidefumi",
"id": "sg:person.01046366266.03",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01046366266.03"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki 852, Japan, JP",
"id": "http://www.grid.ac/institutes/grid.174567.6",
"name": [
"Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki 852, Japan, JP"
],
"type": "Organization"
},
"familyName": "Niikawa",
"givenName": "Norio",
"id": "sg:person.01234571166.04",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01234571166.04"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Osaka University Medical School, 2-2 Yamadaoka, Suita, Osaka 565, Japan, JP",
"id": "http://www.grid.ac/institutes/grid.136593.b",
"name": [
"Osaka University Medical School, 2-2 Yamadaoka, Suita, Osaka 565, Japan, JP"
],
"type": "Organization"
},
"familyName": "Inoue",
"givenName": "Masahiro",
"id": "sg:person.010432056142.30",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010432056142.30"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Osaka University Medical School, 2-2 Yamadaoka, Suita, Osaka 565, Japan, JP",
"id": "http://www.grid.ac/institutes/grid.136593.b",
"name": [
"Osaka University Medical School, 2-2 Yamadaoka, Suita, Osaka 565, Japan, JP"
],
"type": "Organization"
},
"familyName": "Komoto",
"givenName": "Yosuke",
"id": "sg:person.01247361030.74",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01247361030.74"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Osaka University Medical School, 2-2 Yamadaoka, Suita, Osaka 565, Japan, JP",
"id": "http://www.grid.ac/institutes/grid.136593.b",
"name": [
"Osaka University Medical School, 2-2 Yamadaoka, Suita, Osaka 565, Japan, JP"
],
"type": "Organization"
},
"familyName": "Okada",
"givenName": "Akira",
"id": "sg:person.0725725344.49",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0725725344.49"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "University of Innsbruck, Anichstrasse 35, A-6020 Innsbruck, Austria, AT",
"id": "http://www.grid.ac/institutes/grid.5771.4",
"name": [
"University of Innsbruck, Anichstrasse 35, A-6020 Innsbruck, Austria, AT"
],
"type": "Organization"
},
"familyName": "Steichen",
"givenName": "Elisabeth",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Saitama Children\u2019s Medical Center, 2100 Magome, Iwatsuki, Saitama 339, Japan, JP",
"id": "http://www.grid.ac/institutes/grid.416697.b",
"name": [
"Saitama Children\u2019s Medical Center, 2100 Magome, Iwatsuki, Saitama 339, Japan, JP"
],
"type": "Organization"
},
"familyName": "Ohashi",
"givenName": "Hirofumi",
"id": "sg:person.01022561320.02",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01022561320.02"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390, Japan, JP",
"id": "http://www.grid.ac/institutes/grid.263518.b",
"name": [
"Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390, Japan, JP"
],
"type": "Organization"
},
"familyName": "Fukushima",
"givenName": "Yoshimitsu",
"id": "sg:person.01277043266.55",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277043266.55"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodou-cyo, Izumi, Osaka 565, Japan, JP",
"id": "http://www.grid.ac/institutes/grid.416629.e",
"name": [
"Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodou-cyo, Izumi, Osaka 565, Japan, JP"
],
"type": "Organization"
},
"familyName": "Nakayama",
"givenName": "Masahiro",
"id": "sg:person.010043667702.74",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010043667702.74"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, Suita, Osaka 565, Japan e-mail: hatada@ri.ncvc.go.jp, JP",
"id": "http://www.grid.ac/institutes/grid.410796.d",
"name": [
"National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, Suita, Osaka 565, Japan e-mail: hatada@ri.ncvc.go.jp, JP"
],
"type": "Organization"
},
"familyName": "Mukai",
"givenName": "Tsunehiro",
"id": "sg:person.015322520532.81",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015322520532.81"
],
"type": "Person"
}
],
"datePublished": "1997-09",
"datePublishedReg": "1997-09-01",
"description": "Abstract Beckwith-Wiedemann syndrome (BWS) is characterized by numerous growth abnormalities and an increased risk of childhood tumors. The gene for BWS is localized in the 11p15.5 region, as determined by linkage analysis of autosomal dominant pedigrees. The increased maternal transmission pattern seen in the autosomal dominant-type pedigrees and the findings of paternal uniparental disomy reported for a subgroup of patients indicate that the gene for BWS is imprinted. Previously, we found p57KIP2, which is a Cdk-kinase inhibitor located at 11p15, is mutated in two BWS patients. Here, we screened for the mutation of the gene in 15 BWS patients.",
"genre": "article",
"id": "sg:pub.10.1007/s004390050573",
"isAccessibleForFree": false,
"isPartOf": [
{
"id": "sg:journal.1085982",
"issn": [
"0340-6717",
"1432-1203"
],
"name": "Human Genetics",
"publisher": "Springer Nature",
"type": "Periodical"
},
{
"issueNumber": "5-6",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "100"
}
],
"keywords": [
"Beckwith-Wiedemann syndrome",
"BWS patients",
"paternal uniparental disomy",
"linkage analysis",
"genes",
"uniparental disomy",
"mutations",
"pedigree",
"dominant pedigrees",
"growth abnormalities",
"p57KIP2",
"autosomal dominant pedigree",
"transmission patterns",
"disomy",
"childhood tumors",
"subgroup of patients",
"inhibitors",
"patients",
"region",
"patterns",
"syndrome",
"analysis",
"abnormalities",
"tumors",
"findings",
"risk",
"subgroups"
],
"name": "New p57KIP2 mutations in Beckwith-Wiedemann syndrome",
"pagination": "681-683",
"productId": [
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1023574549"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1007/s004390050573"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"9341892"
]
}
],
"sameAs": [
"https://doi.org/10.1007/s004390050573",
"https://app.dimensions.ai/details/publication/pub.1023574549"
],
"sdDataset": "articles",
"sdDatePublished": "2022-08-04T16:52",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-springernature-scigraph/baseset/20220804/entities/gbq_results/article/article_305.jsonl",
"type": "ScholarlyArticle",
"url": "https://doi.org/10.1007/s004390050573"
}
]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.10.1007/s004390050573'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s004390050573'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s004390050573'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s004390050573'
This table displays all metadata directly associated to this object as RDF triples.
258 TRIPLES
20 PREDICATES
66 URIs
58 LITERALS
20 BLANK NODES