Premium
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back
Author(s) -
Rauen Katherine A.,
Schoyer Lisa,
McCormick Frank,
Lin Angela E.,
Allanson Judith E.,
Stevenson David A.,
Gripp Karen W.,
Neri Giovanni,
Carey John C.,
Legius Eric,
Tartaglia Marco,
Schubbert Suzanne,
Roberts Amy E.,
Gelb Bruce D.,
Shan Kevin,
Gutmann David H.,
McMahon Martin,
Guerra Carmen,
Fagin James A.,
Yu Benjamin,
Aoki Yoko,
Neel Benjamin G.,
Balmain Allan,
Drake Richard R.,
Nolan Garry P.,
Zenker Martin,
Bollag Gideon,
SeboltLeopold Judith,
Gibbs Jackson B.,
Silva Alcino J.,
Patton E. Elizabeth,
Viskochil David H.,
Kieran Mark W.,
Korf Bruce R.,
Hagerman Randi J.,
Packer Roger J.,
Melese Teri
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33183
Subject(s) - noonan syndrome , costello syndrome , mapk/erk pathway , neurofibromatosis , medicine , bioinformatics , medical genetics , craniofacial , cancer , genetics , kinase , biology , gene , pathology , psychiatry , colorectal cancer , kras
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.