Germline mutations in HRAS proto-oncogene cause Costello syndrome

By Y. Aoki, T. Niihori, H. Kawame, K. Kurosawa, H. Ohashi, Yukichi Tanaka, M. Filocamo, Kumi Kato, Yoichi Suzuki, S. Kure and 1 more. Nature Genetics, 2005

657 citations recorded by the source corpus.

Subfields: Molecular Biology, Organic Chemistry

View Paper: https://www.semanticscholar.org/paper/cf5ef6b1c93a6208423b98b30775f7ad585acb3a

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In Molecular Biology

1. Len A. Pennacchio
2. Yibin Wang
3. C. Der
4. B. Rose
5. T. Force
6. P. Roberts

Citations in the corpus

• Targeting the Raf-MEK-ERK mitogen-activated protein kinase cascade for the treatment of cancer (2007, background): “Recently, germline de novo mutational activation of H-Ras and K-Ras, B-Raf, as well as MEK1 and MEK2, has been found in patients that comprise a group of related developmental disorders (Costello, cardio–facio– cutaneous and Noonan’s syndromes) (Table 2), and suggests that aberrant ERK activation wi”
• Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy (2007, background): “Similarly, gain-of-function mutations have been found in HRAS in individuals with Costello syndrome and in KRAS in individuals with cardio-facio-cutaneous (CFC) syndrome, two disorders that resemble Noonan syndrom”
• Germline gain-of-function mutations in SOS1 cause Noonan syndrome (2007, background): “HRAS mutations have been found in Costello syndrom”
• Mitogen-activated protein kinase signaling in the heart: angels versus demons in a heart-breaking tale. (2010, background): “genetic disorders with cardiac developmental defects, such as LEOPARD syndrome, cardio-facio-cutaneous (CFC) syndrome, and Costello syndrome (10, 302, 345).”