| Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. | |
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MedLine Citation:
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PMID: 16474404 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinctive facial appearance, heart defects and mental retardation. It phenotypically overlaps with Noonan and Costello syndrome, which are caused by mutations in PTPN11 and HRAS, respectively. In 43 individuals with CFC, we identified two heterozygous KRAS mutations in three individuals and eight BRAF mutations in 16 individuals, suggesting that dysregulation of the RAS-RAF-ERK pathway is a common molecular basis for the three related disorders. |
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Authors:
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Tetsuya Niihori; Yoko Aoki; Yoko Narumi; Giovanni Neri; Hélène Cavé; Alain Verloes; Nobuhiko Okamoto; Raoul C M Hennekam; Gabriele Gillessen-Kaesbach; Dagmar Wieczorek; Maria Ines Kavamura; Kenji Kurosawa; Hirofumi Ohashi; Louise Wilson; Delphine Heron; Dominique Bonneau; Giuseppina Corona; Tadashi Kaname; Kenji Naritomi; Clarisse Baumann; Naomichi Matsumoto; Kumi Kato; 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: 2006-02-12 |
Journal Detail:
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Title: Nature genetics Volume: 38 ISSN: 1061-4036 ISO Abbreviation: Nat. Genet. Publication Date: 2006 Mar |
Date Detail:
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Created Date: 2006-02-27 Completed Date: 2006-05-02 Revised Date: 2012-06-21 |
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: 294-6 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan. |
| Data Bank Information | |
Bank Name/Acc. No.:
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OMIM/115150; 163950; 218040; RefSeq/NC_000001; NC_000007; NC_000011; NC_000012; NM_004333; NM_004985 |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Sequence Face / abnormalities* Heart Defects, Congenital / genetics* Humans Intellectual Disability / genetics Molecular Sequence Data Proto-Oncogene Proteins / genetics* Proto-Oncogene Proteins B-raf / genetics* Reference Values Skin Abnormalities / genetics* Syndrome ras Proteins |
| Chemical | |
Reg. No./Substance:
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0/KRAS protein, human; 0/Proto-Oncogene Proteins; EC 2.7.11.1/BRAF protein, human; EC 2.7.11.1/Proto-Oncogene Proteins B-raf; EC 3.6.5.2/ras Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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