Ontology type: schema:ScholarlyArticle Open Access: True
2019-12-13
AUTHORSYo Hamaguchi, Mikihiro Aoki, Satoshi Watanabe, Hiroyuki Mishima, Koh-ichiro Yoshiura, Hiroyuki Moriuchi, Sumito Dateki
ABSTRACTHeterozygous pathogenic variants in the KAT6B gene, which encodes lysine acetyltransferase 6B, have been identified in patients with congenital rare disorders, including genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome. Herein, we report another Japanese patient with a KAT6B-related disorder and a novel de novo heterozygous variant in exon 18 of KAT6B [c.3925dup, p.(Glu1309fs*33)], providing further evidence that truncating variants in exon 17 and in the proximal region of exon 18 are associated with genitopatellar syndrome-like phenotypes. More... »
PAGES54
http://scigraph.springernature.com/pub.10.1038/s41439-019-0085-3
DOIhttp://dx.doi.org/10.1038/s41439-019-0085-3
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1123347058
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/31871732
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"
}
],
"author": [
{
"affiliation": {
"alternateName": "Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan",
"id": "http://www.grid.ac/institutes/grid.174567.6",
"name": [
"Department of Pediatrics, National Hospital Organization Nagasaki Medical Center, Omura, Japan",
"Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan"
],
"type": "Organization"
},
"familyName": "Hamaguchi",
"givenName": "Yo",
"id": "sg:person.013441261613.18",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013441261613.18"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Pediatrics, National Hospital Organization Nagasaki Medical Center, Omura, Japan",
"id": "http://www.grid.ac/institutes/grid.415640.2",
"name": [
"Department of Pediatrics, National Hospital Organization Nagasaki Medical Center, Omura, Japan"
],
"type": "Organization"
},
"familyName": "Aoki",
"givenName": "Mikihiro",
"id": "sg:person.015075444241.93",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015075444241.93"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Departments of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan",
"id": "http://www.grid.ac/institutes/grid.174567.6",
"name": [
"Departments of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan"
],
"type": "Organization"
},
"familyName": "Watanabe",
"givenName": "Satoshi",
"id": "sg:person.01116536116.99",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01116536116.99"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan",
"id": "http://www.grid.ac/institutes/grid.174567.6",
"name": [
"Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan"
],
"type": "Organization"
},
"familyName": "Mishima",
"givenName": "Hiroyuki",
"id": "sg:person.0643355356.48",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0643355356.48"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan",
"id": "http://www.grid.ac/institutes/grid.174567.6",
"name": [
"Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan"
],
"type": "Organization"
},
"familyName": "Yoshiura",
"givenName": "Koh-ichiro",
"id": "sg:person.01304011603.19",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01304011603.19"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Departments of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan",
"id": "http://www.grid.ac/institutes/grid.174567.6",
"name": [
"Departments of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan"
],
"type": "Organization"
},
"familyName": "Moriuchi",
"givenName": "Hiroyuki",
"id": "sg:person.0646074221.31",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0646074221.31"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Departments of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan",
"id": "http://www.grid.ac/institutes/grid.174567.6",
"name": [
"Departments of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan"
],
"type": "Organization"
},
"familyName": "Dateki",
"givenName": "Sumito",
"id": "sg:person.01023477015.64",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01023477015.64"
],
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1038/hgv.2015.50",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1046472396",
"https://doi.org/10.1038/hgv.2015.50"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng1403",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1053479258",
"https://doi.org/10.1038/ng1403"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/jhg.2016.12",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1016186613",
"https://doi.org/10.1038/jhg.2016.12"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ejhg.2014.248",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1018786957",
"https://doi.org/10.1038/ejhg.2014.248"
],
"type": "CreativeWork"
}
],
"datePublished": "2019-12-13",
"datePublishedReg": "2019-12-13",
"description": "Heterozygous pathogenic variants in the KAT6B gene, which encodes lysine acetyltransferase 6B, have been identified in patients with congenital rare disorders, including genitopatellar syndrome and Say-Barber-Biesecker-Young-Simpson syndrome. Herein, we report another Japanese patient with a KAT6B-related disorder and a novel de novo heterozygous variant in exon 18 of KAT6B [c.3925dup, p.(Glu1309fs*33)], providing further evidence that truncating variants in exon 17 and in the proximal region of exon 18 are associated with genitopatellar syndrome-like phenotypes.",
"genre": "article",
"id": "sg:pub.10.1038/s41439-019-0085-3",
"inLanguage": "en",
"isAccessibleForFree": true,
"isFundedItemOf": [
{
"id": "sg:grant.7534680",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.8533798",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.9336925",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.9338740",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.6536563",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.7853214",
"type": "MonetaryGrant"
}
],
"isPartOf": [
{
"id": "sg:journal.1320608",
"issn": [
"2054-345X"
],
"name": "Human Genome Variation",
"publisher": "Springer Nature",
"type": "Periodical"
},
{
"issueNumber": "1",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "6"
}
],
"keywords": [
"novel de novo heterozygous variant",
"exon 18",
"heterozygous pathogenic variants",
"de novo heterozygous variants",
"novel frameshift variant",
"novo heterozygous variants",
"lysine acetyltransferase 6B",
"Japanese patients",
"rare disorder",
"genitopatellar syndrome",
"Simpson syndrome",
"pathogenic variants",
"Biesecker-Young",
"heterozygous variants",
"KAT6B gene",
"Say-Barber",
"patients",
"frameshift variant",
"disorders",
"syndrome",
"exon 17",
"KAT6B",
"further evidence",
"proximal region",
"variants",
"phenotype",
"evidence",
"genes",
"Herein",
"region"
],
"name": "KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)",
"pagination": "54",
"productId": [
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1123347058"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1038/s41439-019-0085-3"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"31871732"
]
}
],
"sameAs": [
"https://doi.org/10.1038/s41439-019-0085-3",
"https://app.dimensions.ai/details/publication/pub.1123347058"
],
"sdDataset": "articles",
"sdDatePublished": "2022-05-10T10:23",
"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_822.jsonl",
"type": "ScholarlyArticle",
"url": "https://doi.org/10.1038/s41439-019-0085-3"
}
]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/s41439-019-0085-3'
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/s41439-019-0085-3'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s41439-019-0085-3'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s41439-019-0085-3'
This table displays all metadata directly associated to this object as RDF triples.
167 TRIPLES
22 PREDICATES
60 URIs
48 LITERALS
7 BLANK NODES