ArticleThe Journal of clinical investigation2011
RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it.
Article in The Journal of clinical investigation, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
34 citing papers in PubMed, 65 citations in OpenAlex.
- Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy.JACC. Basic to translational science · 2025Article
- RASopathies and Cardiac Complications: Insights into Mechanisms, Diagnosis, and Innovative Treatments.Current cardiology reviews · 2025Review
- Epigenetic Study of Cohort of Monozygotic Twins With Hypertrophic Cardiomyopathy Due to MYBPC3 (Cardiac Myosin-Binding Protein C).Journal of the American Heart Association · 2024Article
- Review
- Identification of necroptosis-related diagnostic biomarkers in coronary heart disease.Heliyon · 2024Article
- Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines.Circulation. Genomic and precision medicine · 2023Article
- Novel effects of Ras-MAPK pathogenic variants on the developing human brain and their link to gene expression and inhibition abilities.Translational psychiatry · 2023Article
- Comprehensive Transcriptomics Profiling of MicroRNA Reveals Plasma Circulating Biomarkers of Hypertrophic Cardiomyopathy and Dysregulated Signaling Pathways.Circulation. Heart failure · 2023Article
- Multimodality Imaging in Noonan Syndrome: Case Series of Young Children.Radiology. Cardiothoracic imaging · 2023Article
- Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.European journal of pediatrics · 2022Article
- Molecules linked to Ras signaling as therapeutic targets in cardiac pathologies.Biological research · 2021Review
- PTPN11 Mutations in the Ras-MAPK Signaling Pathway Affect Human White Matter Microstructure.Cerebral cortex (New York, N.Y. : 1991) · 2021Article
- Network-based computational approach to identify genetic links between cardiomyopathy and its risk factors.IET systems biology · 2020Article
- Long-term outcomes of childhood onset Noonan compared to sarcomere hypertrophic cardiomyopathy.Cardiovascular diagnosis and therapy · 2019Article
- Advanced Evolution of Pathogenesis Concepts in Cardiomyopathies.Journal of clinical medicine · 2019Review
- Genetic basis of hypertrophic cardiomyopathy in children.Clinical research in cardiology : official journal of the German Cardiac Society · 2019Article
- Differential microRNA expression profiles and bioinformatics analysis between young and aging spontaneously hypertensive rats.International journal of molecular medicine · 2018Article
- Soluble adenylyl cyclase: A novel player in cardiac hypertrophy induced by isoprenaline or pressure overload.PloS one · 2018Article
- Cellular interplay via cytokine hierarchy causes pathological cardiac hypertrophy in RAF1-mutant Noonan syndrome.Nature communications · 2017Article
- Macrocyclic MEK1/2 inhibitor with efficacy in a mouse model of cardiomyopathy caused by lamin A/C gene mutation.Bioorganic & medicinal chemistry · 2017Article
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2 authors at 1 institution in 1 country.
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Abstract
In this issue of the JCI, Wu et al. and Marin et al. describe two new mouse models of inherited disorders of the RAS/MAPK signal transduction pathway that display hypertrophic cardiomyopathy (HCM); the model from the former paper was from a gain-of-function Raf1 mutation, and the model from the latter paper was from a protein tyrosine phosphatase, non-receptor type 11 (Ptpn11) mutated allele encoding Shp2 with impaired catalytic function. The two groups show that HCM arises from increased signaling through Erk1/2 and the mTor complex 1, respectively, and that those cardiac issues can be prevented or reversed with small-molecule therapies inhibiting the appropriate pathway. Aside from being the first studies of treatment for Noonan syndrome and related disorders in a mammalian system, these papers provide important insights into the role of RAS signaling in cardiac hypertrophy and suggest the complexity in developing meaningful therapy for individuals with these RASopathies.
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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.