Associated Papers
Functional Analysis of Rare RAS Variants of Unknown Significance.
Park S et al.
Cancer Research Communications, 2025
A Drosophila model for Costello Syndrome caused by Ras mutation K117R.
Karunaraj P et al.
Biorxiv : the Preprint Server for Biology, 2025
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Conformational States of the GDP- and GTP-Bound HRAS Affected by A59E and K117R: An Exploration from Gaussian Accelerated Molecular Dynamics.
Yu Z et al.
Molecules (basel, Switzerland), 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
Predicting Deleterious Non-Synonymous Single Nucleotide Polymorphisms (nsSNPs) of HRAS Gene and In Silico Evaluation of Their Structural and Functional Consequences towards Diagnosis and Prognosis of Cancer.
Chai CY et al.
Biology, 2022
Delineating the RAS Conformational Landscape.
Parker MI et al.
Cancer Research, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
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
Spatially interacting phosphorylation sites and mutations in cancer.
Huang KL et al.
Nature Communications, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia.
Vuralli D et al.
Molecular Syndromology, 2020
Comparison of hair manifestations in cardio-facio-cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth.
Urban J et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2019
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Ewans LJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
Hiatt SM et al.
Plos Genetics, 2018
Mutation status and prognostic values of KRAS, NRAS, BRAF and PIK3CA in 353 Chinese colorectal cancer patients.
Guo F et al.
Scientific Reports, 2018
Real-Time Genomic Characterization Utilizing Circulating Cell-Free DNA in Patients with Anaplastic Thyroid Carcinoma.
Sandulache VC et al.
Thyroid : Official Journal of the American Thyroid Association, 2017
Impact of genetic variation on three dimensional structure and function of proteins.
Bhattacharya R et al.
Plos One, 2017
Respiratory system involvement in Costello syndrome.
Gomez-Ospina N et al.
American Journal of Medical Genetics. Part A, 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
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 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
Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.
Abe Y 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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
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
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
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.
Tidyman WE et al.
Current Opinion in Genetics & Development, 2009
Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome.
Rosenberger G et al.
Human Mutation, 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
Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.
Denayer E et al.
Human Mutation, 2008
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Schulz AL et al.
Clinical Genetics, 2008
What's new in the neuro-cardio-facial-cutaneous syndromes?
Denayer E et al.
European Journal of Pediatrics, 2007
Hyperactive Ras in developmental disorders and cancer.
Schubbert S et al.
Nature Reviews. Cancer, 2007
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
Zampino G et al.
Human Mutation, 2007