Associated Papers
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
Expanding the Molecular Spectrum of Carcinoma Ex Pleomorphic Adenoma: An Analysis of 84 Cases With a Novel HMGA2::LINC02389 Fusion.
de Lima-Souza RA et al.
The American Journal of Surgical Pathology, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 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
Clinical and NGS predictors of response to regorafenib in recurrent glioblastoma.
Chiesa S et al.
Scientific Reports, 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
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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2019
Unusual KRAS missense mutation (p.E63K) in patient with juvenile pilocytic astrocytoma of the tectum.
Chau LQ et al.
Bmj Case Reports, 2019
Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation.
Quélin C et al.
European Journal of Medical Genetics, 2017
Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.
Dallol A et al.
Journal of Translational Medicine, 2016
Comprehensive genomic profiling of 295 cases of clinically advanced urothelial carcinoma of the urinary bladder reveals a high frequency of clinically relevant genomic alterations.
Ross JS et al.
Cancer, 2016
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
The Contribution of Missense Mutations in Core and Rim Residues of Protein-Protein Interfaces to Human Disease.
David A et al.
Journal of Molecular Biology, 2015
A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease.
Henry JM et al.
Journal of Neurology, 2015
Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.
Bolocan A et al.
Neuromuscular Disorders : Nmd, 2014
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
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
Severe neonatal manifestations of Costello syndrome.
Lo IF et al.
Journal of Medical Genetics, 2008
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
Schulz AL et al.
Clinical Genetics, 2008
Costello syndrome and related disorders.
Quezada E et al.
Current Opinion in Pediatrics, 2007
Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation.
van der Burgt I et al.
Journal of Medical Genetics, 2007
An effector-like function of Ras GTPase-activating protein predominates in cardiac muscle cells.
Abdellatif M et al.
The Journal of Biological Chemistry, 1997