Associated Papers
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 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
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
33226070 (PubMed )
Supplement: btaa972_supplementary_data.zip › RAS_Manuscript_RMarkdown.tar.gz › RAS_Manuscript1.Revised › RAS_Variants_Scores.xlsx › Sheet1
Respiratory system involvement in Costello syndrome.
Gomez-Ospina N et al.
American Journal of Medical Genetics. Part A, 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
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
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
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