Associated Papers
Somatic Mutations of Thymic Epithelial Tumors Identified in the Prospective THYMOGENE Trial.
Pardini E et al.
Thoracic Cancer, 2025
Functional Analysis of Rare RAS Variants of Unknown Significance.
Park S et al.
Cancer Research Communications, 2025
Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer.
Vlachavas EI et al.
Molecular Oncology, 2025
Tumor-derived RHOA mutants interact with effectors in the GDP-bound state.
Lin Y et al.
Nature Communications, 2024
KRAS Mutation Subtypes and Their Association with Other Driver Mutations in Oncogenic Pathways.
Mondal K et al.
Cells, 2024
Clinical features associated with NeoRAS wild-type metastatic colorectal cancer A SCRUM-Japan GOZILA substudy.
Osumi H et al.
Nature Communications, 2024
Mosaic RASopathies concept: different skin lesions, same systemic manifestations?
Morren MA et al.
Journal of Medical Genetics, 2024
Clinical-Molecular characteristics and Post-Translational modifications of colorectal cancer in north China: Implications for future targeted therapies.
Chi Y et al.
Gene, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Schimmelpenning-Feuerstein-Mims syndrome induced by HRAS Gly12Ser somatic mosaic mutation: Case report and literature review.
Ono H et al.
The Journal of Dermatology, 2023
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
Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.
Lee K et al.
Scientific Reports, 2023
Cancer in Costello syndrome: a systematic review and meta-analysis.
Astiazaran-Symonds E et al.
British Journal of Cancer, 2023
KRAS, NRAS, BRAF, and PIK3CA mutation rates, clinicopathological association, and their prognostic value in Iranian colorectal cancer patients.
Mirzapoor Abbasabadi Z et al.
Journal of Clinical Laboratory Analysis, 2023
Beyond structural bioinformatics for genomics with dynamics characterization of an expanded KRAS mutational landscape.
Ratnasinghe BD et al.
Computational and Structural Biotechnology Journal, 2023
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
Delineating the RAS Conformational Landscape.
Parker MI et al.
Cancer Research, 2022
Comparative analysis of web-based programs for single amino acid substitutions in proteins.
Choudhury A et al.
Plos One, 2022
Multidisciplinary Management of Costello Syndrome: Current Perspectives.
Leoni C et al.
Journal of Multidisciplinary Healthcare, 2022
Mutations matter: An observational study of the prognostic and predictive value of KRAS mutations in metastatic colorectal cancer.
Lavacchi D et al.
Frontiers in Oncology, 2022
Unusual phylogenetic tree and circulating actionable ESR1 mutations in an aggressive luminal/HER2-low breast cancer: Case report.
Allegretti M et al.
Frontiers in Oncology, 2022
Complete Screening of Exons 2, 3, and 4 of KRAS and NRAS Genes Reveals a Higher Number of Clinically Relevant Mutations than Food and Drug Administration Quantitative Polymerase Chain Reaction-Based Commercial Kits.
Sánchez-Ibarra HE et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 2020
Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia.
Vuralli D et al.
Molecular Syndromology, 2020
Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.
Li Z et al.
Clinical and Translational Medicine, 2020
Tipifarnib as a Precision Therapy for HRAS-Mutant Head and Neck Squamous Cell Carcinomas.
Gilardi M et al.
Molecular Cancer Therapeutics, 2020
Biology, pathology, and therapeutic targeting of RAS.
Rhett JM et al.
Advances in Cancer Research, 2020
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2019
Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome.
Georgeson P et al.
Molecular Genetics & Genomic Medicine, 2019
Mutation status and prognostic values of KRAS, NRAS, BRAF and PIK3CA in 353 Chinese colorectal cancer patients.
Guo F et al.
Scientific Reports, 2018
A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update.
Chiu AT et al.
American Journal of Medical Genetics. Part A, 2017
Functional characterization of somatic mutations in cancer using network-based inference of protein activity.
Alvarez MJ et al.
Nature Genetics, 2016
Prognostic role of KRAS mutations in Sardinian patients with colorectal carcinoma.
Palomba G et al.
Oncology Letters, 2016
Endoscopic ultrasound fine-needle aspiration cytology mutation profiling using targeted next-generation sequencing: personalized care for rectal cancer.
Gleeson FC et al.
American Journal of Clinical Pathology, 2015
Deep sequencing of cancer-related genes revealed GNAS mutations to be associated with intraductal papillary mucinous neoplasms and its main pancreatic duct dilation.
Takano S et al.
Plos One, 2014
Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome.
Wey M et al.
Biochemistry, 2013
Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.
Lorenz S et al.
Human Molecular Genetics, 2013
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2012
Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.
Gripp KW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
Niihori T et al.
Journal of Human Genetics, 2011
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.
Lin AE et al.
American Journal of Medical Genetics. Part A, 2011
Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
Gremer L et al.
Human Molecular Genetics, 2010
Activating K-Ras mutations outwith 'hotspot' codons in sporadic colorectal tumours - implications for personalised cancer medicine.
Smith G et al.
British Journal of Cancer, 2010
Structural assessment of the effects of amino acid substitutions on protein stability and protein protein interaction.
Teng S et al.
International Journal of Computational Biology and Drug Design, 2010
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.
Tidyman WE et al.
Current Opinion in Genetics & Development, 2009
Clinical and molecular aspects of RAS related disorders.
Denayer E et al.
Journal of Medical Genetics, 2008
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y et al.
Human Mutation, 2008
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2008
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Schulz AL et al.
Clinical Genetics, 2008