An imprinted gene p57KIP2 is mutated in Beckwith–Wiedemann syndrome View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1996-10

AUTHORS

Izuho Hatada, Hirofumi Ohashi, Yoshimitsu Fukushima, Yasuhiko Kaneko, Masahiro Inoue, Yosuke Komoto, Akira Okada, Sachiko Ohishi, Akira Nabetani, Hiroko Morisaki, Masahiro Nakayama, Norio Niikawa, Tsunehiro Mukai

ABSTRACT

p57KIP2 is a potent tight-binding inhibitor of several G1 cyclin/Cdk complexes, and is a negative regulator of cell proliferation1,2. The gene encoding p57KIP2 is located at 11p15.5 (ref. 2), a region implicated in both sporadic cancers and Beckwith-Wiedemann syndrome, a cancer-predisposing syndrome, making it a tumour-suppressor candidate. Several types of childhood tumours including Wilms' tumour, adrenocortical carcinoma and rhabdomyosarcoma exhibit a specific loss of maternal 11p15 alleles, suggesting that genomic imprinting3–8 is involved9–12. Genetic analysis of the Beckwith-Wiedemann syndrome indicated maternal carriers, as well as suggesting a role of genomic imprinting13. Previously, we and others demonstrated that p57KIP2 is imprinted and that only the maternal allele is expressed in both mice and humans14–16. Here we describe p57KIP2 mutations in patients with Beckwith-Wiedemann syndrome. Among nine patients we examined, two were heterozygous for different mutations in this gene — a missense mutation in the Cdk inhibitory domain resulting in loss of most of the protein, and a frameshift resulting in disruption of the QT domain. The missense mutation was transmitted from the patient's carrier mother, indicating that the expressed maternal allele was mutant and that the repressed paternal allele was normal. Consequently, little or no active p57KIP2 should exist and this probably causes the overgrowth in this BWS patient. More... »

PAGES

171-173

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng1096-171

DOI

http://dx.doi.org/10.1038/ng1096-171

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1013340270

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/8841187


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/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1112", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Oncology and Carcinogenesis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Beckwith-Wiedemann Syndrome", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child", 
        "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": "DNA Mutational Analysis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genes, Tumor Suppressor", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Carrier Screening", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genomic Imprinting", 
        "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": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Nuclear Proteins", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, 565, Suita, Osaka, Japan", 
          "id": "http://www.grid.ac/institutes/grid.410796.d", 
          "name": [
            "National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, 565, Suita, Osaka, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hatada", 
        "givenName": "Izuho", 
        "id": "sg:person.01322014455.38", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01322014455.38"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Saitama Children's Medical Center, 2100 Magome, 339, Iwatsuki, Saitama, Japan", 
          "id": "http://www.grid.ac/institutes/grid.416697.b", 
          "name": [
            "Saitama Children's Medical Center, 2100 Magome, 339, Iwatsuki, Saitama, Japan"
          ], 
          "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, 390, Matsumoto, Nagano, Japan", 
          "id": "http://www.grid.ac/institutes/grid.263518.b", 
          "name": [
            "Shinshu University School of Medicine, 3-1-1 Asahi, 390, Matsumoto, Nagano, Japan"
          ], 
          "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": "Saitama Cancer Center, 818 Komuro, 362, Ina, Saitama, Japan", 
          "id": "http://www.grid.ac/institutes/grid.416695.9", 
          "name": [
            "Saitama Cancer Center, 818 Komuro, 362, Ina, Saitama, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kaneko", 
        "givenName": "Yasuhiko", 
        "id": "sg:person.01155046325.68", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01155046325.68"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Osaka University Medical School, 2-2 Yamadaoka, 565, Suita, Osaka, Japan", 
          "id": "http://www.grid.ac/institutes/grid.136593.b", 
          "name": [
            "Osaka University Medical School, 2-2 Yamadaoka, 565, Suita, Osaka, Japan"
          ], 
          "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, 565, Suita, Osaka, Japan", 
          "id": "http://www.grid.ac/institutes/grid.136593.b", 
          "name": [
            "Osaka University Medical School, 2-2 Yamadaoka, 565, Suita, Osaka, Japan"
          ], 
          "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, 565, Suita, Osaka, Japan", 
          "id": "http://www.grid.ac/institutes/grid.136593.b", 
          "name": [
            "Osaka University Medical School, 2-2 Yamadaoka, 565, Suita, Osaka, Japan"
          ], 
          "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": "National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, 565, Suita, Osaka, Japan", 
          "id": "http://www.grid.ac/institutes/grid.410796.d", 
          "name": [
            "National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, 565, Suita, Osaka, Japan"
          ], 
          "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": "National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, 565, Suita, Osaka, Japan", 
          "id": "http://www.grid.ac/institutes/grid.410796.d", 
          "name": [
            "National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, 565, Suita, Osaka, Japan"
          ], 
          "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, 565, Suita, Osaka, Japan", 
          "id": "http://www.grid.ac/institutes/grid.410796.d", 
          "name": [
            "National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, 565, Suita, Osaka, Japan"
          ], 
          "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": "Osaka Medical Center and Research Institutefor Maternal and Child Health, 840 Murodou-cyo, 565, Izumi, Osaka, Japan", 
          "id": "http://www.grid.ac/institutes/grid.416629.e", 
          "name": [
            "Osaka Medical Center and Research Institutefor Maternal and Child Health, 840 Murodou-cyo, 565, Izumi, Osaka, Japan"
          ], 
          "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": "Nagasaki University School of Medicine, 1-12-4 Sakamoto, 852, Nagasaki, Japan", 
          "id": "http://www.grid.ac/institutes/grid.174567.6", 
          "name": [
            "Nagasaki University School of Medicine, 1-12-4 Sakamoto, 852, Nagasaki, Japan"
          ], 
          "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": "National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, 565, Suita, Osaka, Japan", 
          "id": "http://www.grid.ac/institutes/grid.410796.d", 
          "name": [
            "National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, 565, Suita, Osaka, Japan"
          ], 
          "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"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1007/bf01907937", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046916294", 
          "https://doi.org/10.1007/bf01907937"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00496807", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002054215", 
          "https://doi.org/10.1007/bf00496807"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/351665a0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032770996", 
          "https://doi.org/10.1038/351665a0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng1095-204", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005972301", 
          "https://doi.org/10.1038/ng1095-204"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "1996-10", 
    "datePublishedReg": "1996-10-01", 
    "description": "Abstractp57KIP2 is a potent tight-binding inhibitor of several G1 cyclin/Cdk complexes, and is a negative regulator of cell proliferation1,2. The gene encoding p57KIP2 is located at 11p15.5 (ref. 2), a region implicated in both sporadic cancers and Beckwith-Wiedemann syndrome, a cancer-predisposing syndrome, making it a tumour-suppressor candidate. Several types of childhood tumours including Wilms' tumour, adrenocortical carcinoma and rhabdomyosarcoma exhibit a specific loss of maternal 11p15 alleles, suggesting that genomic imprinting3\u20138 is involved9\u201312. Genetic analysis of the Beckwith-Wiedemann syndrome indicated maternal carriers, as well as suggesting a role of genomic imprinting13. Previously, we and others demonstrated that p57KIP2 is imprinted and that only the maternal allele is expressed in both mice and humans14\u201316. Here we describe p57KIP2 mutations in patients with Beckwith-Wiedemann syndrome. Among nine patients we examined, two were heterozygous for different mutations in this gene \u2014 a missense mutation in the Cdk inhibitory domain resulting in loss of most of the protein, and a frameshift resulting in disruption of the QT domain. The missense mutation was transmitted from the patient's carrier mother, indicating that the expressed maternal allele was mutant and that the repressed paternal allele was normal. Consequently, little or no active p57KIP2 should exist and this probably causes the overgrowth in this BWS patient.", 
    "genre": "article", 
    "id": "sg:pub.10.1038/ng1096-171", 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1103138", 
        "issn": [
          "1061-4036", 
          "1546-1718"
        ], 
        "name": "Nature Genetics", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "2", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "14"
      }
    ], 
    "keywords": [
      "Beckwith-Wiedemann syndrome", 
      "carrier mothers", 
      "missense mutations", 
      "cancer-predisposing syndrome", 
      "adrenocortical carcinoma", 
      "childhood tumors", 
      "tumor suppressor candidate", 
      "syndrome", 
      "patients", 
      "maternal carriers", 
      "tumors", 
      "Wilms tumor", 
      "sporadic cancers", 
      "BWS patients", 
      "maternal allele", 
      "gene p57KIP2", 
      "different mutations", 
      "p57KIP2", 
      "specific loss", 
      "negative regulator", 
      "mutations", 
      "maternal 11p15 alleles", 
      "alleles", 
      "carcinoma", 
      "repressed paternal allele", 
      "binding inhibitor", 
      "cancer", 
      "cyclin/CDK complexes", 
      "mice", 
      "paternal allele", 
      "inhibitory domain", 
      "Cdk inhibitory domain", 
      "mothers", 
      "inhibitors", 
      "genes", 
      "genetic analysis", 
      "loss", 
      "cells", 
      "G1 cyclin/Cdk complexes", 
      "CDK complexes", 
      "overgrowth", 
      "disruption", 
      "protein", 
      "role", 
      "frameshift", 
      "regulator", 
      "candidates", 
      "carriers", 
      "types", 
      "analysis", 
      "region", 
      "domain", 
      "exhibit", 
      "complexes"
    ], 
    "name": "An imprinted gene p57KIP2 is mutated in Beckwith\u2013Wiedemann syndrome", 
    "pagination": "171-173", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1013340270"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ng1096-171"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "8841187"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ng1096-171", 
      "https://app.dimensions.ai/details/publication/pub.1013340270"
    ], 
    "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_279.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1038/ng1096-171"
  }
]
 

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/ng1096-171'

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/ng1096-171'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng1096-171'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng1096-171'


 

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

289 TRIPLES      21 PREDICATES      98 URIs      86 LITERALS      21 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ng1096-171 schema:about N20ce6a4007c94869b60ec5d7d1d86a82
2 N323601dccb784df785f13b87e3eff8e4
3 N36af5a6925cc46a29b36f9275d815ee9
4 N36f68c2213cd49ae91449842785bf72c
5 N479a68c6c65e41b092093db630bfb364
6 N4ca0e783c01a4f7dbe98b56004185984
7 N753727248847415b9aed137bf437c740
8 N84a19c14dee54f0ab7c87252c878f3c7
9 N8624431465e54c8f80ce604c38baf4e4
10 N9dd09eb2628348a79ddc325d558353f5
11 Nbfa0981b03c54decb7db96ce33cbff51
12 Ne29f720a1d754f1dbeb68755f145d873
13 Nf967abf330be4f588359789c87b50aeb
14 Nff36f63dcec74de591c8f353f3dee3f9
15 anzsrc-for:11
16 anzsrc-for:1112
17 schema:author Nbc3410ca04a847df979ab1bf35480aa6
18 schema:citation sg:pub.10.1007/bf00496807
19 sg:pub.10.1007/bf01907937
20 sg:pub.10.1038/351665a0
21 sg:pub.10.1038/ng1095-204
22 schema:datePublished 1996-10
23 schema:datePublishedReg 1996-10-01
24 schema:description Abstractp57KIP2 is a potent tight-binding inhibitor of several G1 cyclin/Cdk complexes, and is a negative regulator of cell proliferation1,2. The gene encoding p57KIP2 is located at 11p15.5 (ref. 2), a region implicated in both sporadic cancers and Beckwith-Wiedemann syndrome, a cancer-predisposing syndrome, making it a tumour-suppressor candidate. Several types of childhood tumours including Wilms' tumour, adrenocortical carcinoma and rhabdomyosarcoma exhibit a specific loss of maternal 11p15 alleles, suggesting that genomic imprinting3–8 is involved9–12. Genetic analysis of the Beckwith-Wiedemann syndrome indicated maternal carriers, as well as suggesting a role of genomic imprinting13. Previously, we and others demonstrated that p57KIP2 is imprinted and that only the maternal allele is expressed in both mice and humans14–16. Here we describe p57KIP2 mutations in patients with Beckwith-Wiedemann syndrome. Among nine patients we examined, two were heterozygous for different mutations in this gene — a missense mutation in the Cdk inhibitory domain resulting in loss of most of the protein, and a frameshift resulting in disruption of the QT domain. The missense mutation was transmitted from the patient's carrier mother, indicating that the expressed maternal allele was mutant and that the repressed paternal allele was normal. Consequently, little or no active p57KIP2 should exist and this probably causes the overgrowth in this BWS patient.
25 schema:genre article
26 schema:isAccessibleForFree false
27 schema:isPartOf N41a82dafedb945c78d042f2712cddc48
28 Na8a7928cf1854a2fb50fb4683dab4c91
29 sg:journal.1103138
30 schema:keywords BWS patients
31 Beckwith-Wiedemann syndrome
32 CDK complexes
33 Cdk inhibitory domain
34 G1 cyclin/Cdk complexes
35 Wilms tumor
36 adrenocortical carcinoma
37 alleles
38 analysis
39 binding inhibitor
40 cancer
41 cancer-predisposing syndrome
42 candidates
43 carcinoma
44 carrier mothers
45 carriers
46 cells
47 childhood tumors
48 complexes
49 cyclin/CDK complexes
50 different mutations
51 disruption
52 domain
53 exhibit
54 frameshift
55 gene p57KIP2
56 genes
57 genetic analysis
58 inhibitors
59 inhibitory domain
60 loss
61 maternal 11p15 alleles
62 maternal allele
63 maternal carriers
64 mice
65 missense mutations
66 mothers
67 mutations
68 negative regulator
69 overgrowth
70 p57KIP2
71 paternal allele
72 patients
73 protein
74 region
75 regulator
76 repressed paternal allele
77 role
78 specific loss
79 sporadic cancers
80 syndrome
81 tumor suppressor candidate
82 tumors
83 types
84 schema:name An imprinted gene p57KIP2 is mutated in Beckwith–Wiedemann syndrome
85 schema:pagination 171-173
86 schema:productId N0a958c9ecccb40118b85ed1c7e0c2f66
87 N24fdc1607f5944839cdd98443a3fe822
88 Nd7d7db4dc5724ca8866ea8676be7660e
89 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013340270
90 https://doi.org/10.1038/ng1096-171
91 schema:sdDatePublished 2022-08-04T16:52
92 schema:sdLicense https://scigraph.springernature.com/explorer/license/
93 schema:sdPublisher Nbb3229ddb5a34b52a6b3ad601ce3e1e1
94 schema:url https://doi.org/10.1038/ng1096-171
95 sgo:license sg:explorer/license/
96 sgo:sdDataset articles
97 rdf:type schema:ScholarlyArticle
98 N01cffd07b6554ef4b150d61d83534d61 rdf:first sg:person.01247361030.74
99 rdf:rest N10ee428b17444bfca29e78f39d34f854
100 N0a958c9ecccb40118b85ed1c7e0c2f66 schema:name dimensions_id
101 schema:value pub.1013340270
102 rdf:type schema:PropertyValue
103 N10ee428b17444bfca29e78f39d34f854 rdf:first sg:person.0725725344.49
104 rdf:rest Nc97e00f330884bfb8f9830f3d6ad86df
105 N20ce6a4007c94869b60ec5d7d1d86a82 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
106 schema:name Beckwith-Wiedemann Syndrome
107 rdf:type schema:DefinedTerm
108 N24fdc1607f5944839cdd98443a3fe822 schema:name doi
109 schema:value 10.1038/ng1096-171
110 rdf:type schema:PropertyValue
111 N26dba91949544e1995ec526db778cb19 rdf:first sg:person.012752433721.62
112 rdf:rest N2edfd20748d6497086d408c631385416
113 N2edfd20748d6497086d408c631385416 rdf:first sg:person.01065206234.75
114 rdf:rest N4e7ccd34e9c94e50a20f024250dda646
115 N323601dccb784df785f13b87e3eff8e4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
116 schema:name Male
117 rdf:type schema:DefinedTerm
118 N36af5a6925cc46a29b36f9275d815ee9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
119 schema:name Child
120 rdf:type schema:DefinedTerm
121 N36f68c2213cd49ae91449842785bf72c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
122 schema:name Mutation
123 rdf:type schema:DefinedTerm
124 N41a82dafedb945c78d042f2712cddc48 schema:issueNumber 2
125 rdf:type schema:PublicationIssue
126 N479a68c6c65e41b092093db630bfb364 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
127 schema:name Genetic Carrier Screening
128 rdf:type schema:DefinedTerm
129 N4ca0e783c01a4f7dbe98b56004185984 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
130 schema:name Female
131 rdf:type schema:DefinedTerm
132 N4e7ccd34e9c94e50a20f024250dda646 rdf:first sg:person.010043667702.74
133 rdf:rest N7ff13956d6104a219abf89cdcbd65089
134 N5f7e4c8ec4eb4426b204fa515c2fb7a3 rdf:first sg:person.01277043266.55
135 rdf:rest N8dfd7dda74d54b8898cbff6e40490ecc
136 N717e3d97f6e34cb38a1189ce2e5e6477 rdf:first sg:person.015322520532.81
137 rdf:rest rdf:nil
138 N753727248847415b9aed137bf437c740 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
139 schema:name Nuclear Proteins
140 rdf:type schema:DefinedTerm
141 N7ff13956d6104a219abf89cdcbd65089 rdf:first sg:person.01234571166.04
142 rdf:rest N717e3d97f6e34cb38a1189ce2e5e6477
143 N84a19c14dee54f0ab7c87252c878f3c7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
144 schema:name Humans
145 rdf:type schema:DefinedTerm
146 N8624431465e54c8f80ce604c38baf4e4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
147 schema:name DNA Mutational Analysis
148 rdf:type schema:DefinedTerm
149 N8dfd7dda74d54b8898cbff6e40490ecc rdf:first sg:person.01155046325.68
150 rdf:rest Nb9770dbe99594f1bae0ea587f749e284
151 N9dd09eb2628348a79ddc325d558353f5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
152 schema:name Japan
153 rdf:type schema:DefinedTerm
154 Na8a7928cf1854a2fb50fb4683dab4c91 schema:volumeNumber 14
155 rdf:type schema:PublicationVolume
156 Nb9770dbe99594f1bae0ea587f749e284 rdf:first sg:person.010432056142.30
157 rdf:rest N01cffd07b6554ef4b150d61d83534d61
158 Nbb3229ddb5a34b52a6b3ad601ce3e1e1 schema:name Springer Nature - SN SciGraph project
159 rdf:type schema:Organization
160 Nbc3410ca04a847df979ab1bf35480aa6 rdf:first sg:person.01322014455.38
161 rdf:rest Nc6af055c5c8d4093b24af69e3d2bc0fc
162 Nbfa0981b03c54decb7db96ce33cbff51 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
163 schema:name Genomic Imprinting
164 rdf:type schema:DefinedTerm
165 Nc6af055c5c8d4093b24af69e3d2bc0fc rdf:first sg:person.01022561320.02
166 rdf:rest N5f7e4c8ec4eb4426b204fa515c2fb7a3
167 Nc97e00f330884bfb8f9830f3d6ad86df rdf:first sg:person.01075504015.49
168 rdf:rest N26dba91949544e1995ec526db778cb19
169 Nd7d7db4dc5724ca8866ea8676be7660e schema:name pubmed_id
170 schema:value 8841187
171 rdf:type schema:PropertyValue
172 Ne29f720a1d754f1dbeb68755f145d873 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
173 schema:name Cyclin-Dependent Kinase Inhibitor p57
174 rdf:type schema:DefinedTerm
175 Nf967abf330be4f588359789c87b50aeb schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
176 schema:name Genes, Tumor Suppressor
177 rdf:type schema:DefinedTerm
178 Nff36f63dcec74de591c8f353f3dee3f9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
179 schema:name Infant, Newborn
180 rdf:type schema:DefinedTerm
181 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
182 schema:name Medical and Health Sciences
183 rdf:type schema:DefinedTerm
184 anzsrc-for:1112 schema:inDefinedTermSet anzsrc-for:
185 schema:name Oncology and Carcinogenesis
186 rdf:type schema:DefinedTerm
187 sg:journal.1103138 schema:issn 1061-4036
188 1546-1718
189 schema:name Nature Genetics
190 schema:publisher Springer Nature
191 rdf:type schema:Periodical
192 sg:person.010043667702.74 schema:affiliation grid-institutes:grid.416629.e
193 schema:familyName Nakayama
194 schema:givenName Masahiro
195 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010043667702.74
196 rdf:type schema:Person
197 sg:person.01022561320.02 schema:affiliation grid-institutes:grid.416697.b
198 schema:familyName Ohashi
199 schema:givenName Hirofumi
200 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01022561320.02
201 rdf:type schema:Person
202 sg:person.010432056142.30 schema:affiliation grid-institutes:grid.136593.b
203 schema:familyName Inoue
204 schema:givenName Masahiro
205 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010432056142.30
206 rdf:type schema:Person
207 sg:person.01065206234.75 schema:affiliation grid-institutes:grid.410796.d
208 schema:familyName Morisaki
209 schema:givenName Hiroko
210 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01065206234.75
211 rdf:type schema:Person
212 sg:person.01075504015.49 schema:affiliation grid-institutes:grid.410796.d
213 schema:familyName Ohishi
214 schema:givenName Sachiko
215 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01075504015.49
216 rdf:type schema:Person
217 sg:person.01155046325.68 schema:affiliation grid-institutes:grid.416695.9
218 schema:familyName Kaneko
219 schema:givenName Yasuhiko
220 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01155046325.68
221 rdf:type schema:Person
222 sg:person.01234571166.04 schema:affiliation grid-institutes:grid.174567.6
223 schema:familyName Niikawa
224 schema:givenName Norio
225 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01234571166.04
226 rdf:type schema:Person
227 sg:person.01247361030.74 schema:affiliation grid-institutes:grid.136593.b
228 schema:familyName Komoto
229 schema:givenName Yosuke
230 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01247361030.74
231 rdf:type schema:Person
232 sg:person.012752433721.62 schema:affiliation grid-institutes:grid.410796.d
233 schema:familyName Nabetani
234 schema:givenName Akira
235 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012752433721.62
236 rdf:type schema:Person
237 sg:person.01277043266.55 schema:affiliation grid-institutes:grid.263518.b
238 schema:familyName Fukushima
239 schema:givenName Yoshimitsu
240 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01277043266.55
241 rdf:type schema:Person
242 sg:person.01322014455.38 schema:affiliation grid-institutes:grid.410796.d
243 schema:familyName Hatada
244 schema:givenName Izuho
245 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01322014455.38
246 rdf:type schema:Person
247 sg:person.015322520532.81 schema:affiliation grid-institutes:grid.410796.d
248 schema:familyName Mukai
249 schema:givenName Tsunehiro
250 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015322520532.81
251 rdf:type schema:Person
252 sg:person.0725725344.49 schema:affiliation grid-institutes:grid.136593.b
253 schema:familyName Okada
254 schema:givenName Akira
255 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0725725344.49
256 rdf:type schema:Person
257 sg:pub.10.1007/bf00496807 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002054215
258 https://doi.org/10.1007/bf00496807
259 rdf:type schema:CreativeWork
260 sg:pub.10.1007/bf01907937 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046916294
261 https://doi.org/10.1007/bf01907937
262 rdf:type schema:CreativeWork
263 sg:pub.10.1038/351665a0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032770996
264 https://doi.org/10.1038/351665a0
265 rdf:type schema:CreativeWork
266 sg:pub.10.1038/ng1095-204 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005972301
267 https://doi.org/10.1038/ng1095-204
268 rdf:type schema:CreativeWork
269 grid-institutes:grid.136593.b schema:alternateName Osaka University Medical School, 2-2 Yamadaoka, 565, Suita, Osaka, Japan
270 schema:name Osaka University Medical School, 2-2 Yamadaoka, 565, Suita, Osaka, Japan
271 rdf:type schema:Organization
272 grid-institutes:grid.174567.6 schema:alternateName Nagasaki University School of Medicine, 1-12-4 Sakamoto, 852, Nagasaki, Japan
273 schema:name Nagasaki University School of Medicine, 1-12-4 Sakamoto, 852, Nagasaki, Japan
274 rdf:type schema:Organization
275 grid-institutes:grid.263518.b schema:alternateName Shinshu University School of Medicine, 3-1-1 Asahi, 390, Matsumoto, Nagano, Japan
276 schema:name Shinshu University School of Medicine, 3-1-1 Asahi, 390, Matsumoto, Nagano, Japan
277 rdf:type schema:Organization
278 grid-institutes:grid.410796.d schema:alternateName National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, 565, Suita, Osaka, Japan
279 schema:name National Cardiovascular Center Research Institute, 5-7-1, Fujishiro-dai, 565, Suita, Osaka, Japan
280 rdf:type schema:Organization
281 grid-institutes:grid.416629.e schema:alternateName Osaka Medical Center and Research Institutefor Maternal and Child Health, 840 Murodou-cyo, 565, Izumi, Osaka, Japan
282 schema:name Osaka Medical Center and Research Institutefor Maternal and Child Health, 840 Murodou-cyo, 565, Izumi, Osaka, Japan
283 rdf:type schema:Organization
284 grid-institutes:grid.416695.9 schema:alternateName Saitama Cancer Center, 818 Komuro, 362, Ina, Saitama, Japan
285 schema:name Saitama Cancer Center, 818 Komuro, 362, Ina, Saitama, Japan
286 rdf:type schema:Organization
287 grid-institutes:grid.416697.b schema:alternateName Saitama Children's Medical Center, 2100 Magome, 339, Iwatsuki, Saitama, Japan
288 schema:name Saitama Children's Medical Center, 2100 Magome, 339, Iwatsuki, Saitama, Japan
289 rdf:type schema:Organization
 




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


...