Associated Papers
The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.
Rautiainen N et al.
American Journal of Medical Genetics. Part A, 2026
Wide Ranging Neurobehavioral Phenotype in Individuals With Costello Syndrome.
Curlee MS et al.
American Journal of Medical Genetics. Part A, 2026
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.
Pinheiro M et al.
Nature Communications, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Computational Exploration of Single-Nucleotide Polymorphisms in the Human hRAS Gene: Implications and Insights.
Dakshitha S et al.
Cureus, 2024
A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome.
Frey T et al.
American Journal of Medical Genetics. Part A, 2023
Cancer in Costello syndrome: a systematic review and meta-analysis.
Astiazaran-Symonds E et al.
British Journal of Cancer, 2023
In Silico Analysis of nsSNPs of Human KRAS Gene and Protein Modeling Using Bioinformatic Tools.
Xu D et al.
Acs Omega, 2023
Predicting the effects of rare genetic variants on oncogenic signaling pathways: A computational analysis of HRAS protein function.
Ali S et al.
Frontiers in Chemistry, 2023
Cancer incidence and surveillance strategies in individuals with RASopathies.
Ney G et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.
Lindsey-Temple S et al.
European Journal of Human Genetics : Ejhg, 2022
Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.
Chan W et al.
Eclinicalmedicine, 2022
Multidisciplinary Management of Costello Syndrome: Current Perspectives.
Leoni C et al.
Journal of Multidisciplinary Healthcare, 2022
Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations.
Tripathi S et al.
Bioinformatics (oxford, England), 2021
Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia.
Vuralli D et al.
Molecular Syndromology, 2020
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2019
Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.
Yu KPT et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort.
Chen H et al.
Orphanet Journal of Rare Diseases, 2019
SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis.
Young LC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics.
Gripp KW et al.
Clinical Genetics, 2017
Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.
Pantaleoni F et al.
Human Mutation, 2017
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.
Bertola D et al.
American Journal of Medical Genetics. Part A, 2017
A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation.
Sana ME et al.
Plos One, 2016
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2015
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