Associated Papers
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.
Gazzin A et al.
European Journal of Human Genetics : Ejhg, 2026
The Noonan Syndrome-linked Raf1L613V mutation drives increased glial number in the mouse cortex and enhanced learning.
Holter MC et al.
Plos Genetics, 2019
The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.
Tajan M et al.
Endocrine Reviews, 2018
The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.
Harms FL et al.
American Journal of Medical Genetics. Part A, 2018
The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I).
Hernández-Porras I et al.
Rare Diseases (austin, Tex.), 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.
Wu X et al.
Molecular and Cellular Biology, 2012
A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.
Cheng TM et al.
Plos Computational Biology, 2012
Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes.
Dhandapany PS et al.
Journal of Molecular and Cellular Cardiology, 2011
PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?
Lauriol J et al.
Trends in Cardiovascular Medicine, 2011
Ras in cancer and developmental diseases.
Fernández-Medarde A et al.
Genes & Cancer, 2011
RAF inhibitors transactivate RAF dimers and ERK signalling in cells with wild-type BRAF.
Poulikakos PI et al.
Nature, 2010
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
Kobayashi T et al.
Human Mutation, 2010
Noonan syndrome: clinical aspects and molecular pathogenesis.
Tartaglia M et al.
Molecular Syndromology, 2010
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.
Rauen KA et al.
American Journal of Medical Genetics. Part A, 2010