Associated Papers
Undifferentiated Melanoma: A Clinicopathologic and Gene Expression Analysis Study With Identification of HMGA2 as a Diagnostic Marker.
Fischer GM et al.
The American Journal of Surgical Pathology, 2025
Molecular Profiling of KRAS, NRAS, and BRAF in Colorectal Cancer: Insights From a Libyan Cohort.
Tawel HM et al.
Cureus, 2025
Functional Analysis of Rare RAS Variants of Unknown Significance.
Park S et al.
Cancer Research Communications, 2025
A Comparative Genomic Study of Conventional and Undifferentiated Melanoma.
Fischer GM et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2024
Tumor-derived RHOA mutants interact with effectors in the GDP-bound state.
Lin Y et al.
Nature Communications, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 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
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
Case Report: Longitudinal monitoring of clonal evolution by circulating tumor DNA for resistance to anti-EGFR antibody in a case of metastatic colorectal cancer.
Sagawa T et al.
Frontiers in Oncology, 2023
Somatic mutations of thymic epithelial tumors with myasthenia gravis.
Pardini E et al.
Frontiers in Oncology, 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
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
Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development.
Shankar SP et al.
Ophthalmic Genetics, 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
Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia.
Vuralli D et al.
Molecular Syndromology, 2020
Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study.
Yasuda T et al.
Cancer Science, 2020
RAS pathway influences the number of melanocytic nevi in cardiofaciocutaneous and Costello syndromes.
Kiuru M et al.
Journal of the American Academy of Dermatology, 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
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2019
A Highly Verified Assay for KRAS Mutation Detection in Tissue and Plasma of Lung, Colorectal, and Pancreatic Cancer.
Li J et al.
Archives of Pathology & Laboratory Medicine, 2019
A Comparative Analysis of Individual RAS Mutations in Cancer Biology.
Muñoz-Maldonado C et al.
Frontiers in Oncology, 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
Identification of a novel RASD1 somatic mutation in a USP8-mutated corticotroph adenoma.
Uzilov AV et al.
Cold Spring Harbor Molecular Case Studies, 2017
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
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
Orthopedic manifestations and implications for individuals with Costello syndrome.
Detweiler S et al.
American Journal of Medical Genetics. Part A, 2013
Assessing genotype-phenotype correlation in Costello syndrome using a severity score.
McCormick EM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Normative growth charts for individuals with Costello syndrome.
Sammon MR et al.
American Journal of Medical Genetics. Part A, 2012
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.
Lorenz S et al.
European Journal of Medical Genetics, 2012
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
Bone resorption in syndromes of the Ras/MAPK pathway.
Stevenson DA et al.
Clinical Genetics, 2011
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
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 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
High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 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
High-throughput sequencing screen reveals novel, transforming RAS mutations in myeloid leukemia patients.
Tyner JW et al.
Blood, 2009