American Journal of Medical Genetics Part A · 2016 · 31 citations · 10 references
MedicineMolecular GeneticsHuman GeneticsMedical GeneticsMolecular PathologyGenetic DisordersGenetic SyndromesNeurocutaneous SyndromesNeurogenetic DisordersRare Disease GeneticsRas Family OncogenesAberrant Ras ActivationMapk Pathway MutationsMek SignalingNeurofibromatosis Type 1Ras Pathway ActivationRas SignalingRas Signaling PathwayRas-mitogen-activated Protein Kinase Signaling
The RASopathies are a group of disorders due to variations of genes associated with the Ras/MAPK pathway. Some of the RASopathies include neurofibromatosis type 1 (NF1), Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, and capillary malformation-arteriovenous malformation (CM-AVM) syndrome. In combination, the RASopathies are a frequent group of genetic disorders. This report summarizes the proceedings of the 4th International Symposium on Genetic Disorders of the Ras/MAPK pathway and highlights gaps in the field. © 2016 Wiley Periodicals, Inc.
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Kim M. Keppler‐Noreuil, Jonathan J. Rios, Victoria Parker et al. · American Journal of Medical Genetics Part A · 2014 · 572 citations · Full text
K-Ras Promotes Tumorigenicity through Suppression of Non-canonical Wnt Signaling
Man-Tzu Wang, Matthew Holderfield, Jacqueline Galeas et al. · Cell · 2015 · 195 citations · Full text
Cardiovascular disease in Noonan syndrome
Terence Prendiville, K. Gauvreau, Erica Tworog‐Dube et al. · Archives of Disease in Childhood · 2014 · 151 citations · Full text
Medicine, Cardiology, Genetics +15