| Literature DB >> 25393061 |
Katherine A Rauen1, Susan M Huson, Emma Burkitt-Wright, D Gareth Evans, Said Farschtschi, Rosalie E Ferner, David H Gutmann, C Oliver Hanemann, Bronwyn Kerr, Eric Legius, Luis F Parada, Michael Patton, Juha Peltonen, Nancy Ratner, Vincent M Riccardi, Thijs van der Vaart, Miikka Vikkula, David H Viskochil, Martin Zenker, Meena Upadhyaya.
Abstract
Neurofibromatosis type 1 (NF1) was the first RASopathy and is now one of many RASopathies that are caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Their common underlying pathogenetic etiology causes significant overlap in phenotypic features which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium "Recent Developments in Neurofibromatoses (NF) and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues" chronicle this timely and topical clinical translational research symposium. The overarching goal was to bring together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras pathway syndromes to discuss the most state-of-the-art basic science and clinical issues in an effort to spark collaborations directed towards the best practices and therapies for individuals with RASopathies.Entities:
Keywords: Costello syndrome; Legius syndrome; Noonan syndrome; RASopathy; Ras/MAPK; capillary malformation-AV malformation syndrome; cardio-facio-cutaneous syndrome; neurofibromatosis; signal transduction pathway; therapy
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Year: 2014 PMID： 25393061 PMCID： PMC4275383 DOI： 10.1002/ajmg.a.36793
Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802