The RASopathies
Top Cited Papers
- 31 August 2013
- journal article
- review article
- Published by Annual Reviews in Annual Review of Genomics and Human Genetics
- Vol. 14 (1), 355-369
- https://doi.org/10.1146/annurev-genom-091212-153523
Abstract
The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway. These disorders include neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, capillary malformation–arteriovenous malformation syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, and Legius syndrome. Because of the common underlying Ras/MAPK pathway dysregulation, the RASopathies exhibit numerous overlapping phenotypic features. The Ras/MAPK pathway plays an essential role in regulating the cell cycle and cellular growth, differentiation, and senescence, all of which are critical to normal development. Therefore, it is not surprising that Ras/MAPK pathway dysregulation has profound deleterious effects on both embryonic and later stages of development. The Ras/MAPK pathway has been well studied in cancer and is an attractive target for small-molecule inhibit...Keywords
This publication has 69 references indexed in Scilit:
- Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in developmentBritish Journal of Dermatology, 2012
- Lovastatin as Treatment for Neurocognitive Deficits in Neurofibromatosis Type 1: Phase I StudyPediatric Neurology, 2011
- Molecular confirmation of HRAS p.G12S in siblings with Costello syndromeAmerican Journal of Medical Genetics Part A, 2011
- Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromesAmerican Journal Of Medical Genetics Part C-Seminars In Medical Genetics, 2011
- Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndromeAmerican Journal of Medical Genetics Part A, 2011
- Capillary Malformation–Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 MutationsAmerican Journal of Human Genetics, 2003
- Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 GeneAmerican Journal of Human Genetics, 2002
- PTPN11 mutations in LEOPARD syndromeJournal of Medical Genetics, 2002
- Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndromeNature Genetics, 2001
- Intrinsic GTPase activity distinguishes normal and oncogenic ras p21 molecules.Proceedings of the National Academy of Sciences of the United States of America, 1984