TY - JOUR
T1 - Recent developments in neurofibromatoses and RASopathies
T2 - Management, diagnosis and current and future therapeutic avenues
AU - Rauen, Katherine A.
AU - Huson, Susan M.
AU - Burkitt-Wright, Emma
AU - Evans, D. Gareth
AU - Farschtschi, Said
AU - Ferner, Rosalie E.
AU - Gutmann, David H.
AU - Hanemann, C. Oliver
AU - Kerr, Bronwyn
AU - Legius, Eric
AU - Parada, Luis F.
AU - Patton, Michael
AU - Peltonen, Juha
AU - Ratner, Nancy
AU - Riccardi, Vincent M.
AU - van der Vaart, Thijs
AU - Vikkula, Miikka
AU - Viskochil, David H.
AU - Zenker, Martin
AU - Upadhyaya, Meena
N1 - Publisher Copyright:
© 2014 Wiley Periodicals, Inc.
PY - 2015/1/1
Y1 - 2015/1/1
N2 - 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.
AB - 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.
KW - Capillary malformation-AV malformation syndrome
KW - Cardio-facio-cutaneous syndrome
KW - Costello syndrome
KW - Legius syndrome
KW - Neurofibromatosis
KW - Noonan syndrome
KW - RASopathy
KW - Ras/MAPK
KW - Signal transduction pathway
KW - Therapy
UR - http://www.scopus.com/inward/record.url?scp=84919632825&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84919632825&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.36793
DO - 10.1002/ajmg.a.36793
M3 - Article
C2 - 25393061
AN - SCOPUS:84919632825
SN - 1552-4825
VL - 167
SP - 1
EP - 10
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 1
ER -