| Germline mutations in HRAS proto-oncogene cause Costello syndrome. | |
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MedLine Citation:
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PMID: 16170316 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Costello syndrome is a multiple congenital anomaly and mental retardation syndrome characterized by coarse face, loose skin, cardiomyopathy and predisposition to tumors. We identified four heterozygous de novo mutations of HRAS in 12 of 13 affected individuals, all of which were previously reported as somatic and oncogenic mutations in various tumors. Our observations suggest that germline mutations in HRAS perturb human development and increase susceptibility to tumors. |
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Authors:
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Yoko Aoki; Tetsuya Niihori; Hiroshi Kawame; Kenji Kurosawa; Hirofumi Ohashi; Yukichi Tanaka; Mirella Filocamo; Kumi Kato; Yoichi Suzuki; Shigeo Kure; Yoichi Matsubara |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2005-09-18 |
Journal Detail:
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Title: Nature genetics Volume: 37 ISSN: 1061-4036 ISO Abbreviation: Nat. Genet. Publication Date: 2005 Oct |
Date Detail:
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Created Date: 2005-09-30 Completed Date: 2005-12-20 Revised Date: 2011-11-24 |
Medline Journal Info:
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Nlm Unique ID: 9216904 Medline TA: Nat Genet Country: United States |
Other Details:
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Languages: eng Pagination: 1038-40 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Sendai 980-8574, Japan. aokiy@mail.tains.tohoku.ac.jp |
| Data Bank Information | |
Bank Name/Acc. No.:
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OMIM/163950; 218040; RefSeq/NC_000001; NC_000011; NC_000012; NC_000023; NM_005343 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Amino Acid Sequence Cardiomyopathies / genetics Face / abnormalities Female Genetic Predisposition to Disease* Germ-Line Mutation* Humans Intellectual Disability / genetics* Molecular Sequence Data Neoplasms / genetics Proto-Oncogene Proteins p21(ras) / genetics* Skin Abnormalities / genetics Syndrome |
| Grant Support | |
ID/Acronym/Agency:
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GTF04002//Telethon |
| Chemical | |
Reg. No./Substance:
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EC 3.6.5.2/HRAS protein, human; EC 3.6.5.2/Proto-Oncogene Proteins p21(ras) |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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