Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back Journal Article
| Authors: | Rauen, K. A.; Schoyer, L.; McCormick, F.; Lin, A. E.; Allanson, J. E.; Stevenson, D. A.; Gripp, K. W.; Neri, G.; Carey, J. C.; Legius, E.; Tartaglia, M.; Schubbert, S.; Roberts, A. E.; Gelb, B. D.; Shannon, K.; Gutmann, D. H.; McMahon, M.; Guerra, C.; Fagin, J. A.; Yu, B.; Aoki, Y.; Neel, B. G.; Balmain, A.; Drake, R. R.; Nolan, G. P.; Zenker, M.; Bollag, G.; Sebolt-Leopold, J.; Gibbs, J. B.; Silva, A. J.; Patton, E. E.; Viskochil, D. H.; Kieran, M. W.; Korf, B. R.; Hagerman, R. J.; Packer, R. J.; Melese, T. |
| Article Title: | Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back |
| Abstract: | The RASopathies are a group of genetic syndromes caused by germline mutations in genes that encode components of the Ras/ mitogen-activated protein kinase (MAPK) pathway. Some of these syndromes are neurofibromatosis type 1, Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, LEOPARD syndrome and Legius syndrome. Their common underlying pathogenetic mechanism brings about significant overlap in phenotypic features and includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium "Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back" chronicle the timely and typical research symposium which brought together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras syndromes and their families. The goals, to discuss basic science and clinical issues, to set forth a solid framework for future research, to direct translational applications towards therapy and to set forth best practices for individuals with RASopathies were successfully meet with a commitment to begin to move towards clinical trials. © 2009 Wiley-Liss, Inc. |
| Keywords: | signal transduction; mitogen activated protein kinase; gene mutation; clinical trial; pathogenesis; sorafenib; liver cell carcinoma; phenotype; neurofibromatosis; cancer susceptibility; map kinase signaling system; skin defect; heart disease; thorax deformity; hyperkeratosis; short stature; gene activation; syndrome; medical research; neurofibromin; ras protein; gene inactivation; costello syndrome; ras proteins; genetic disorder; rhabdomyosarcoma; blood clotting disorder; minocycline; gastrointestinal disease; morphological trait; therapy; supraventricular tachycardia; cafe au lait spot; hemangioma; ptosis; funnel chest; cryptorchism; premature labor; cardio-facio-cutaneous syndrome; legius syndrome; neurofibromatosis type 1; noonan syndrome; ras/mapk; rasopathy; signal transduction pathway; attention deficit disorder; cardio facio cutaneous syndrome; craniofacial malformation; fragile x syndrome; hydramnios; hypertrophic cardiomyopathy; language disability; leopard syndrome; lung dysplasia; macrocephaly; muscle hypotonia; musculoskeletal system malformation; pigeon thorax; webbed neck |
| Journal Title: | American Journal of Medical Genetics Part A |
| Volume: | 152A |
| Issue: | 1 |
| ISSN: | 1552-4825 |
| Publisher: | Wiley Liss, Inc |
| Date Published: | 2010-01-01 |
| Start Page: | 4 |
| End Page: | 24 |
| Language: | English |
| DOI: | 10.1002/ajmg.a.33183 |
| PUBMED: | 20014119 |
| PROVIDER: | scopus |
| PMCID: | PMC4051786 |
| DOI/URL: | |
| Notes: | --- - "Cited By (since 1996): 9" - "Export Date: 20 April 2011" - "CODEN: AJMGD" - "Source: Scopus" |
