ReviewArquivos brasileiros de cardiologia2014
Hypertrophic cardiomyopathy: how do mutations lead to disease?
Review in Arquivos brasileiros de cardiologia, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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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
23 citing papers in PubMed, 55 citations in OpenAlex.
- Genetic Animal Models of Cardiovascular Pathologies.Biomedicines · 2025Review
- How Omecamtiv Modulates Myosin Motion.Biochemistry · 2025Article
- Hypertrophic cardiomyopathy inThe journal of cardiovascular aging · 2024Article
- Sarcomeric gene variants among Indians with hypertrophic cardiomyopathy: A scoping review.The Indian journal of medical research · 2023Article
- Cardiomyocyte Apoptosis Is Associated with Contractile Dysfunction in Stem Cell Model ofInternational journal of molecular sciences · 2023Article
- Cardiomyocyte apoptosis contributes to contractile dysfunction in stem cell model ofbioRxiv : the preprint server for biology · 2023Article
- Whole-Exome Sequencing Reveals Mutational Signature of Hypertrophic Cardiomyopathy.International journal of general medicine · 2023Article
- Deciphering the Basis of Molecular Biology of Selected Cardiovascular Diseases: A View on Network Medicine.International journal of molecular sciences · 2022Review
- Dual loss of regulator of G protein signaling 2 and 5 exacerbates ventricular myocyte arrhythmias and disrupts the fine-tuning of GJournal of molecular and cellular cardiology · 2022Article
- Understanding the molecular basis of cardiomyopathy.American journal of physiology. Heart and circulatory physiology · 2022Review
- Article
- Femtosecond laser-based nanosurgery reveals the endogenous regeneration of single Z-discs including physiological consequences for cardiomyocytes.Scientific reports · 2019Article
- INDUCED PLURIPOTENT STEM CELLS FOR MODELLING ENERGETIC ALTERATIONS IN HYPERTROPHIC CARDIOMYOPATHY.Conditioning medicine · 2019Article
- Functional significance of HCM mutants of tropomyosin, V95A and D175N, studied withBiophysics and physicobiology · 2019Article
- Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human-Induced Pluripotent Stem Cells.Circulation · 2018Article
- Actin-Myosin Interaction: Structure, Function and Drug Discovery.International journal of molecular sciences · 2018Review
- Successful knock-in of Hypertrophic Cardiomyopathy-mutation R723G into the MYH7 gene mimics HCM pathology in pigs.Scientific reports · 2018Article
- Finding the candidate sequence variants for diagnosis of hypertrophic cardiomyopathy in East Slovak patients.Journal of clinical laboratory analysis · 2018Article
- Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy.Journal of muscle research and cell motility · 2017Article
- A Cardiomyopathy Mutation in the Myosin Essential Light Chain Alters Actomyosin Structure.Biophysical journal · 2017Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypertrophic cardiomyopathy (HCM) is the most common monogenic genetic cardiac disease, with an estimated prevalence of 1:500 in the general population. Clinically, HCM is characterized by hypertrophy of the left ventricle (LV) walls, especially the septum, usually asymmetric, in the absence of any cardiac or systemic disease that leads to a secondary hypertrophy. The clinical course of the disease has a large inter- and intrafamilial heterogeneity, ranging from mild symptoms of heart failure late in life to the onset of sudden cardiac death at a young age and is caused by a mutation in one of the genes that encode a protein from the sarcomere, Z-disc or intracellular calcium modulators. Although many genes and mutations are already known to cause HCM, the molecular pathways that lead to the phenotype are still unclear. This review focus on the molecular mechanisms of HCM, the pathways from mutation to clinical phenotype and how the disease's genotype correlates with phenotype.
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Registered trials
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.