Associated Papers
Comparative analysis of KRAS4a and KRAS4b splice variants reveals distinctive structural and functional properties.
Whitley MJ et al.
Science Advances, 2024
Development of Noonan syndrome by deregulation of allosteric SOS autoactivation.
Umutesi HG et al.
The Journal of Biological Chemistry, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.
Dunnett-Kane V et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2020
A Novel System for Functional Determination of Variants of Uncertain Significance using Deep Convolutional Neural Networks.
Zimmerman L et al.
Scientific Reports, 2020
K-Ras(V14I) -induced Noonan syndrome predisposes to tumour development in mice.
Hernández-Porras I et al.
The Journal of Pathology, 2016
Specific cancer-associated mutations in the switch III region of Ras increase tumorigenicity by nanocluster augmentation.
Šolman M et al.
Elife, 2015
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study.
Nosan G et al.
Croatian Medical Journal, 2013
Two novel germline KRAS mutations: expanding the molecular and clinical phenotype.
Stark Z et al.
Clinical Genetics, 2012
Characterization of a novel KRAS mutation identified in Noonan syndrome.
Razzaque MA et al.
American Journal of Medical Genetics. Part A, 2012
Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature.
Lo FS et al.
European Journal of Pediatrics, 2009
Hyperactive Ras in developmental disorders and cancer.
Schubbert S et al.
Nature Reviews. Cancer, 2007
An unexpected new role of mutant Ras: perturbation of human embryonic development.
Kratz CP et al.
Journal of Molecular Medicine (berlin, Germany), 2007
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
Zenker M et al.
Journal of Medical Genetics, 2007
Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.
Bertola DR et al.
Journal of Human Genetics, 2007
Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.
Gelb BD et al.
Human Molecular Genetics, 2006
Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders.
Kratz CP et al.
Cell Cycle (georgetown, Tex.), 2006
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.
Carta C et al.
American Journal of Human Genetics, 2006