Associated Papers
Novel characterization of MRAS mutation-associated Noonan syndrome: Mild adult-onset hypertrophic cardiomyopathy combined with infective endocarditis: A case report.
Mou X et al.
Medicine, 2026
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
Cardiac MRI Characteristics of Noonan Syndrome Associated With Hypertrophic Cardiomyopathy and Congenital Heart Disease.
Peng Z et al.
Korean Journal of Radiology, 2025
The small GTPase MRAS is a broken switch.
Bernal Astrain G et al.
Nature Communications, 2025
Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels.
Wilcox EH et al.
Genetics in Medicine Open, 2025
Structural insights into the role of SHOC2-MRAS-PP1C complex in RAF activation.
Bonsor DA et al.
The Febs Journal, 2023
Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features.
Priolo M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2023
Structure of the SHOC2-MRAS-PP1C complex provides insights into RAF activation and Noonan syndrome.
Bonsor DA et al.
Nature Structural & Molecular Biology, 2022
Structural basis for SHOC2 modulation of RAS signalling.
Liau NPD et al.
Nature, 2022
Structure of the MRAS-SHOC2-PP1C phosphatase complex.
Hauseman ZJ et al.
Nature, 2022
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis.
Weaver KN et al.
Circulation. Genomic and Precision Medicine, 2022
The RASopathies: from pathogenetics to therapeutics.
Hebron KE et al.
Disease Models & Mechanisms, 2022
Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant.
Pires LVL et al.
American Journal of Medical Genetics. Part A, 2021
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
M-Ras is Muscle-Ras, Moderate-Ras, Mineral-Ras, Migration-Ras, and Many More-Ras.
Endo T
Experimental Cell Research, 2020
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
Motta M et al.
Human Molecular Genetics, 2020
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.
Edwards JJ et al.
Jacc. Basic to Translational Science, 2020
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers.
Suzuki H et al.
American Journal of Medical Genetics. Part A, 2019
MRAS: A Close but Understudied Member of the RAS Family.
Young LC et al.
Cold Spring Harbor Perspectives in Medicine, 2018
SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis.
Young LC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy.
Higgins EM et al.
Jci Insight, 2017