Associated Papers
Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.
Corso BM et al.
Molecular Syndromology, 2026
Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.
van der Wilt CN et al.
European Heart Journal Open, 2026
The small GTPase MRAS is a broken switch.
Bernal Astrain G et al.
Nature Communications, 2025
Advances in Hypertrophic Cardiomyopathy Disease Modelling Using hiPSC-Derived Cardiomyocytes.
Dababneh S et al.
The Canadian Journal of Cardiology, 2024
The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma.
Zeng L et al.
Molecular Genetics & Genomic Medicine, 2024
Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype.
Iida T et al.
Frontiers in Genetics, 2024
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
Generation of a genetically-modified induced pluripotent stem cell line harboring a Noonan syndrome-associated gene variant MRAS p.G23V.
Busley AV et al.
Stem Cell Research, 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
Classical RAS proteins are not essential for paradoxical ERK activation induced by RAF inhibitors.
Lai LP et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
The Role of R-Ras Proteins in Normal and Pathologic Migration and Morphologic Change.
Weber SM et al.
The American Journal of Pathology, 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
Noonan syndrome patient-specific induced cardiomyocyte model carrying SOS1 gene variant c.1654A>G.
Gurusamy N et al.
Experimental Cell Research, 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
MRAS Variants Cause Cardiomyocyte Hypertrophy in Patient-Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes: Additional Evidence for MRAS as a Definitive Noonan Syndrome-Susceptibility Gene.
Higgins EM et al.
Circulation. Genomic and Precision Medicine, 2019
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