ArticleJournal of medical genetics2007
Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation.
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 86 citations in OpenAlex.
- Lipidomic and transcriptomic profiling reveal alterations in the coexistence of gestational diabetes mellitus and preeclampsia impacting maternal and neonatal outcomes.Scientific reports · 2025Article
- Article
- RASopathies - what they reveal about RAS/MAPK signaling in skeletal muscle development.Disease models & mechanisms · 2024Review
- Multidisciplinary Management of Costello Syndrome: Current Perspectives.Journal of multidisciplinary healthcare · 2022Review
- Review
- HPLC method to resolve, identify and quantify guanine nucleotides bound to recombinant ras GTPase.Analytical biochemistry · 2021Article
- Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.Annals of oncology : official journal of the European Society for Medical Oncology · 2020Review
- Costello syndrome: Clinical phenotype, genotype, and management guidelines.American journal of medical genetics. Part A · 2019Article
- Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.Clinical genetics · 2019Article
- Variation and Functional Impact of Neanderthal Ancestry in Western Asia.Genome biology and evolution · 2017Article
- Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models.Scientific reports · 2017Article
- A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation.PloS one · 2016Article
- The Contribution of Missense Mutations in Core and Rim Residues of Protein-Protein Interfaces to Human Disease.Journal of molecular biology · 2015Article
- Acquired Resistance to the Mutant-Selective EGFR Inhibitor AZD9291 Is Associated with Increased Dependence on RAS Signaling in Preclinical Models.Cancer research · 2015Article
- A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease.Journal of neurology · 2015Article
- Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Kinetic mechanisms of mutation-dependent Harvey Ras activation and their relevance for the development of Costello syndrome.Biochemistry · 2013Article
- Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.American journal of human genetics · 2013Article
- A protein domain-centric approach for the comparative analysis of human and yeast phenotypically relevant mutations.BMC genomics · 2013Article
- 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.American journal of medical genetics. Part A · 2012Article
Corrections and comments
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Authors and funding
10 authors at 8 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRare reports on patients with congenital myopathy with excess of muscle spindles (CMEMS), hypertrophic cardiomyopathy and variable features resembling Noonan syndrome have been published, but the genetic basis of this condition is so far unknown. METHODS AND
resultsWe analysed PTPN11 and RAS genes in five unrelated patients with this phenotype, and found HRAS mutations in four of them. Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel. All four mutations are predicted to enhance downstream HRas signalling, suggesting that CMEMS is a developmental consequence of sustained HRas activation in skeletal muscle.
conclusionThis type of myopathy may represent a previously unrecognized manifestation of CS. However, some patients carrying HRAS mutations may exhibit prominent congenital muscular dysfunction, although features of CS may be less obvious, suggesting that germline HRAS mutations may underlie some cases of otherwise unclassified neonatal neuromuscular disorders.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.