Affinage

MYH7

Myosin-7 · UniProt P12883

Length
1935 aa
Mass
223.1 kDa
Annotated
2026-04-29
100 papers in source corpus 20 papers cited in narrative 20 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

MYH7 encodes the β-myosin heavy chain (β-MHC), the principal sarcomeric motor protein of cardiac ventricles and slow-twitch skeletal muscle, whose mutations are a major cause of hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy, Laing distal myopathy, and myosin storage myopathy (PMID:23674513, PMID:15322983, PMID:14520662). Pathogenic mutations in the globular S1 head domain alter cross-bridge kinetics and force generation—either reducing intrinsic sarcomere force or destabilizing the super-relaxed (folded-back) state to produce hypercontractility with increased energy cost—while rod/tail-domain mutations disrupt coiled-coil structure and myosin thick-filament assembly, leading to protein aggregation in skeletal muscle fibers (PMID:24928957, PMID:38683993, PMID:31130376, PMID:27519903). Deep mutational scanning reveals that pathogenic missense variants broadly reduce β-MHC protein abundance and cardiomyocyte survival, and downstream remodeling is mediated through TGF-β/Smad2/3, ERK1/2, mTOR, MAPK, and Nox4/ROS/NF-κB signaling pathways (PMID:38362799, PMID:38862020, PMID:34935644). MYH7 expression is regulated transcriptionally by epigenetic histone modifications at its promoter and by the miR-143-3p–Sox6 axis, and post-transcriptionally by YTHDF2-mediated m6A-dependent mRNA decay, with allelic imbalance modulated in part by mutation-induced changes in mRNA secondary structure (PMID:25181347, PMID:35765992, PMID:34266473, PMID:31790337, PMID:29101517).

Mechanistic history

Synthesis pass · year-by-year structured walk · 17 steps
  1. 1990 High

    Establishing the chromosomal location of MYH7 at 14q12 linked to MYH6 resolved where the β-MHC gene resides and enabled subsequent mutation mapping.

    Evidence In situ hybridization with ³H-labeled β-MHC genomic probe on human chromosomes

    PMID:2249479

    Open questions at the time
    • Physical linkage distance and regulatory relationship between MYH7 and MYH6 loci not defined
    • No functional consequence of locus organization addressed
  2. 2003 Medium

    Identification that a rod-domain mutation (R1845W) causes myosin storage myopathy with subsarcolemmal myosin inclusions established that the MYH7 rod region is essential for thick-filament assembly in slow-twitch skeletal muscle.

    Evidence Muscle biopsy with immunohistochemistry, electron microscopy, and genetic sequencing in affected patients

    PMID:14520662

    Open questions at the time
    • Assembly defect inferred from pathology rather than biochemically reconstituted
    • No in vitro filament assembly assay performed
  3. 2004 Medium

    Mapping of Laing distal myopathy mutations to the coiled-coil rod/tail domain (exons 32–36) demonstrated that disruption of coiled-coil structure underlies a distinct skeletal myopathy mechanism separable from head-domain cardiomyopathy mutations.

    Evidence Genetic sequencing in six families with in silico coiled-coil disruption prediction

    PMID:15322983

    Open questions at the time
    • Coiled-coil disruption was computationally predicted, not biochemically validated
    • Mechanism of selective distal muscle vulnerability not explained
  4. 2013 High

    Direct force measurements on patient cardiomyocytes and myofibrils showed that MYH7 head-domain mutations reduce intrinsic sarcomere force generation, answering whether the primary defect is mechanical rather than purely signaling-based.

    Evidence Single membrane-permeabilized cardiomyocyte and single myofibril force measurements from human HCM cardiac tissue

    PMID:23674513

    Open questions at the time
    • Multiple different head-domain mutations were grouped; variant-specific mechanisms not deconvolved
    • Whether force deficit is dominant-negative or haploinsufficient not resolved
  5. 2014 High

    The R403Q mutation was shown to increase cross-bridge detachment kinetics and energetic cost of tension, establishing that specific head mutations produce energetic inefficiency—not just force loss—linking MYH7 dysfunction to metabolic stress in HCM.

    Evidence Single myofibril mechanics and ATPase-based tension cost measurements in human R403Q cardiac tissue versus mutation-negative HCM

    PMID:24928957

    Open questions at the time
    • Whether energetic inefficiency is a universal feature of all head-domain mutations or specific to R403Q not tested
    • In vivo metabolic consequences not measured
  6. 2014 Medium

    Epigenetic characterization of the Myh7 promoter revealed that specific histone marks (H3K4me2, H3K9me2, H3K27me3, H3K36me2) and DNA methylation machinery changes accompany pathological Myh7 upregulation, establishing a chromatin-level regulatory mechanism for the α-to-β MHC isoform switch in heart failure.

    Evidence ChIP for histone modifications and methylation machinery at Myh7 promoter in TAC mouse hearts

    PMID:25181347

    Open questions at the time
    • Causal role of individual histone marks not tested by perturbation
    • Whether these marks are MYH7-specific or part of a broader hypertrophic gene program not resolved
  7. 2016 Medium

    Cell-based reconstitution of rod-domain proline substitutions (A1437P, R1434P) demonstrated that myosin self-assembly and sarcomere incorporation are dissociable, refining the understanding of how rod mutations cause disease without preventing all filament integration.

    Evidence Fluorescent β-myosin constructs expressed in non-muscle cells with imaging of assembly versus sarcomeric incorporation

    PMID:27519903

    Open questions at the time
    • Non-muscle cell system may not recapitulate sarcomere-level assembly fidelity
    • No force or contractile consequence measured
  8. 2017 Medium

    Detection of MYH7 allelic imbalance in both HCM patients and non-HCM donors revealed that intrinsic regulatory mechanisms—independent of mutation identity—govern unequal allelic expression, establishing allelic dosage as a disease-modifying variable.

    Evidence Allele-specific qPCR and protein quantification in human cardiac tissue from patients and donors

    PMID:29101517

    Open questions at the time
    • Molecular basis of intrinsic allelic imbalance not identified
    • Whether allelic imbalance is heritable or stochastic not resolved
  9. 2018 Medium

    A porcine R723G knock-in model and an isogenic hiPSC-CM E848G model independently confirmed that specific MYH7 point mutations are sufficient to produce HCM hallmarks (disarray, hypertrophy, altered MHC isoform ratio, reduced contractility), validating genotype-phenotype causality in large-animal and human-cell systems.

    Evidence TALEN-mediated porcine knock-in with histopathology; genome-edited hiPSC-CM engineered heart tissue force measurements

    PMID:29555974 PMID:30623132

    Open questions at the time
    • E848G–cMyBP-C interaction mechanism inferred but not directly biochemically validated
    • Long-term progression in porcine model limited by neonatal lethality of clones
  10. 2019 Medium

    SHAPE analysis of R723G mRNA demonstrated that a single missense mutation alters MYH7 mRNA secondary structure, providing a molecular basis for mutation-specific allelic imbalance through post-transcriptional RNA-structural effects.

    Evidence SHAPE RNA structure probing of wild-type versus R723G MYH7 mRNA in vitro

    PMID:31790337

    Open questions at the time
    • Functional link between altered mRNA structure and differential mRNA stability/translation not experimentally demonstrated
    • Single mutation tested; generalizability unknown
  11. 2021 Medium

    Identification of YTHDF2 as a direct m6A-dependent regulator of Myh7 mRNA decay established the first post-transcriptional pathway controlling β-MHC levels and linked epitranscriptomic regulation to cardiac hypertrophy.

    Evidence RIP-MS, domain-deletion, and siRNA knockdown experiments in primary cardiomyocytes and TAC mouse model

    PMID:34266473

    Open questions at the time
    • Specific m6A sites on Myh7 mRNA not mapped
    • Whether YTHDF2-mediated decay is sufficient to modulate allelic imbalance not tested
  12. 2021 Medium

    Genetic epistasis in zebrafish showed that loss of MYH7 ortholog function activates mTOR and MAPK signaling as downstream mediators of cardiomyopathy, with pathway-specific rescue of distinct cellular phenotypes (nuclear size vs. cell shape), deconvolving signaling consequences of MYH7 loss.

    Evidence CRISPR/Cas9 zebrafish mutants with pharmacological and MMEJ-based genetic epistasis screens

    PMID:34935644

    Open questions at the time
    • Zebrafish-to-mammalian translatability of pathway hierarchy not confirmed
    • Upstream sensor linking sarcomere dysfunction to mTOR/MAPK activation unknown
  13. 2022 Medium

    The miR-143-3p–Sox6 axis was identified as a transcriptional regulatory circuit controlling Myh7 expression in cardiomyocytes, connecting obesity-associated microRNA dysregulation to pathological MHC isoform switching.

    Evidence miR-143-3p inhibitor in cardiomyocytes with qPCR for Sox6 and Myh7; obese mouse cardiac hypertrophy model

    PMID:35765992

    Open questions at the time
    • Direct Sox6 binding to Myh7 promoter not demonstrated by ChIP in this study
    • Whether miR-143-3p regulation is cardiac-specific or also operates in skeletal muscle not tested
  14. 2023 Medium

    Genetic ablation of TP53 failed to rescue contractile dysfunction or survival in MYH7 E848G hiPSC-CMs despite elevated p53 activity, establishing that the apoptotic and contractile phenotypes are p53-independent consequences of the mutation.

    Evidence Isogenic hiPSC-CM MYH7 E848G model with TP53 knockout, engineered heart tissue force and apoptosis assays

    PMID:36902340

    Open questions at the time
    • Alternative cell-death pathways mediating apoptosis not identified
    • Whether p53-independent mechanism generalizes to other MYH7 variants unknown
  15. 2024 High

    Multi-scale analysis of G256E established the super-relaxed state as a quantitative regulator of contractile output, showing that disruption of the myosin folded-back conformation increases available cross-bridges and causes hypercontractility with compensatory mitochondrial upregulation—a gain-of-function mechanism distinct from the force-loss seen with other head mutations.

    Evidence Biochemical super-relaxed state assay, myofibril mechanics, traction force microscopy, engineered heart tissues, and single-cell transcriptomics in gene-edited hiPSC-CMs

    PMID:38683993

    Open questions at the time
    • Whether mavacamten or other myosin inhibitors fully restore super-relaxed fraction in G256E not tested in this study
    • Long-term in vivo consequences of hypercontractile mechanism not assessed
  16. 2024 High

    Deep mutational scanning across 113 codon positions revealed that reduced β-MHC protein abundance and impaired cell survival are shared features of pathogenic MYH7 missense variants, suggesting protein instability as a convergent pathomechanism beyond allele-specific kinetic changes.

    Evidence CRISPRa-based hiPSC-CM library with massively parallel variant abundance sequencing; validation in human HCM tissue

    PMID:38362799

    Open questions at the time
    • Whether protein instability reflects folding defects versus enhanced degradation not mechanistically resolved
    • Functional consequences (force, kinetics) not measured for most variants in this screen
  17. 2024 Medium

    Transgenic pig MYH7 R453C model identified TGF-β/Smad2/3, ERK1/2, and Nox4/ROS/NF-κB as mutation-specific downstream remodeling pathways, distinguishing MYH7 signaling from MYH6 and providing therapeutic targets.

    Evidence Transgenic pig (MYH7 vs. MYH6 R453C), RNA-seq, Western blotting, ROS measurement, H9C2 cell model

    PMID:38862020

    Open questions at the time
    • Pathway activation causality versus correlation not fully disentangled
    • Whether pathway specificity is mutation-position or isoform-dependent not resolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include: how sarcomere mechanical dysfunction is sensed and transduced to activate mTOR/MAPK/TGF-β pathways; whether protein instability versus altered kinetics is the dominant pathomechanism across the full MYH7 variant spectrum; and what determines the tissue-specific vulnerability (cardiac versus skeletal) of different domain mutations.
  • No mechanosensor linking sarcomere dysfunction to signaling cascades has been identified
  • Structural basis for domain-specific disease presentation (head = cardiac, rod/tail = skeletal) remains unexplained
  • Therapeutic thresholds for allelic balance correction are unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 4 GO:0003774 cytoskeletal motor activity 3 GO:0140657 ATP-dependent activity 2
Localization
GO:0005856 cytoskeleton 3
Pathway
R-HSA-1643685 Disease 5 R-HSA-397014 Muscle contraction 3 R-HSA-162582 Signal Transduction 2
Partners
MYBPC3MYH6SOX6YTHDF2
Complex memberships
thick filament (sarcomere)

Evidence

Reading pass · 20 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2013 MYH7 mutations (in the globular head/S1 domain) reduce the intrinsic force-generating capacity of sarcomeres at both maximal and submaximal Ca²⁺ concentrations, as demonstrated in single membrane-permeabilized cardiomyocytes and single myofibrils from HCM patients carrying MYH7 mutations, even after correction for myofibril density. Force measurements in single membrane-permeabilized cardiomyocytes and single myofibrils from human cardiac tissue Cardiovascular research High 23674513
2014 The R403Q mutation in MYH7 (located in the S1 actin-binding globular head) increases cross-bridge detachment kinetics (faster slow relaxation) and significantly raises the energetic cost of tension generation (tension cost) in human HCM myofibrils and muscle strips, establishing a direct link between cross-bridge kinetics and energetic inefficiency. Single cardiac myofibril mechanics and ATPase-based tension cost measurements in multicellular cardiac muscle strips from R403Q HCM patients vs. sarcomere mutation-negative HCM The Journal of physiology High 24928957
2024 The MYH7 G256E mutation disrupts the transducer region of the S1 head and reduces the fraction of myosin in the folded-back (super-relaxed) state by ~33%, resulting in more myosin heads available for actin interaction and a hypercontractile phenotype with faster and greater tension development across protein, myofibril, cell, and tissue scales; this is accompanied by upregulated mitochondrial gene expression and increased mitochondrial respiration. Biochemical assay of myosin folded-back state, myofibril mechanics in gene-edited hiPSC-CMs, traction force microscopy in single cells, engineered heart tissues, single-cell transcriptomics, metabolic profiling Proceedings of the National Academy of Sciences of the United States of America High 38683993
2018 The MYH7 E848G mutation causes reduced contractile function in hiPSC-derived cardiomyocytes and engineered heart tissues; genome-edited isogenic controls confirmed pathogenicity, and reduced contractility may result from impaired interaction between MYH7 protein and cardiac myosin binding protein C (cMyBP-C). hiPSC-derived cardiomyocytes, engineered heart tissues, genome editing (isogenic controls), contractile force measurements JACC. Basic to translational science Medium 30623132
2003 A missense mutation Arg1845Trp in the rod region of MYH7 (slow/β-cardiac myosin heavy chain) causes myosin storage myopathy characterized by large subsarcolemmal inclusions of slow/β-cardiac myosin in type I skeletal muscle fibers, indicating that this residue is essential for proper thick filament assembly. Muscle biopsy with immunohistochemistry and electron microscopy confirming myosin-containing inclusions; genetic sequencing identifying Arg1845Trp in rod domain Annals of neurology Medium 14520662
2004 Heterozygous mutations toward the 3′ end of MYH7 (exons 32–36, encoding the coiled-coil rod/tail region) cause Laing early-onset distal myopathy; in silico analysis predicts these mutations locally disrupt the coiled-coil structure of the myosin tail, preventing normal thick filament assembly. Genetic sequencing of MYH7 in six affected families; in silico coiled-coil disruption prediction American journal of human genetics Medium 15322983
2019 Expression of mutant MYH7 (Arg1712Trp) protein in COS-7 cells results in abnormal myosin aggregation compared to wild-type MYH7, directly demonstrating that this rod-domain mutation impairs myosin self-assembly. Heterologous expression of mutant vs. wild-type MYH7 in COS-7 cells with imaging of protein aggregation Neuromuscular disorders : NMD Medium 31130376
2016 Two novel proline substitutions in the rod domain of MYH7 (Ala1437Pro and Arg1434Pro) impair myosin self-assembly in non-muscle cells transfected with β-myosin constructs but do not prevent incorporation of mutant molecules into the sarcomere, dissociating filament assembly from sarcomere incorporation. Transfection of mutant β-myosin constructs in non-muscle cells with fluorescence imaging of assembly BMC medical genetics Medium 27519903
2021 The m6A reader YTHDF2 suppresses cardiac hypertrophy by binding Myh7 mRNA in an m6A-dependent manner (confirmed by immunoprecipitation and mass spectrometry), promoting its decay; knockdown of Myh7 or deletion of the YTH domain of YTHDF2 reversed the protective effect, placing Myh7 mRNA as a direct target of YTHDF2-mediated post-transcriptional regulation. Immunoprecipitation with mass spectrometry (RIP), Western blotting, real-time PCR, siRNA knockdown, domain-deletion experiments in primary cardiomyocytes and TAC mouse model Cell & bioscience Medium 34266473
2021 Loss of vmhcl (zebrafish MYH7 ortholog) function is sufficient to induce cardiomyopathy; pharmacological and genetic epistasis screens identified mTOR and MAPK signaling as downstream pathways mediating vmhcl/MYH7 cardiomyopathy, with mTOR inhibition rescuing enlarged cardiomyocyte nuclear size and MAPK inhibition restoring prolonged cardiomyocyte cell shape. CRISPR/Cas9 frameshift mutants in zebrafish, pharmacological pathway inhibition, MMEJ-based genetic epistasis with 11 candidate genes JCI insight Medium 34935644
2018 Knock-in of the HCM point mutation R723G into porcine MYH7 via TALEN-mediated genome editing produces neonatal pigs with hallmarks of HCM including myocyte disarray, malformed nuclei, and MYH7 overexpression, with a shift in α/β-MyHC ratio in the left ventricle contributing to heart failure. TALEN-mediated knock-in in porcine fibroblasts, somatic cell nuclear transfer cloning, histopathology, qPCR for MyHC isoform ratio Scientific reports Medium 29555974
2019 The R723G MYH7 mutation alters mRNA secondary structure as detected by SHAPE analysis, providing experimental evidence that the point mutation changes mRNA folding which may contribute to allelic imbalance (elevated mutant allele mRNA) observed in HCM patients. SHAPE (selective 2'-hydroxyl acylation analyzed by primer extension) analysis of wild-type vs. R723G MYH7 RNA Physiological genomics Medium 31790337
2017 MYH7 allelic imbalance (unequal expression of mutant vs. wild-type allele) occurs both in HCM patients and in non-HCM donors, indicating that intrinsic MYH7 expression regulation—independent of mutation—contributes to allelic imbalance; this is detected at both mRNA and protein levels. Allele-specific qPCR and protein quantification in cardiac tissue from HCM patients and non-HCM donors Journal of muscle research and cell motility Medium 29101517
2024 MYH7 R453C mutation activates TGF-β/Smad2/3, ERK1/2, and Nox4/ROS/NF-κB signaling pathways in transgenic pigs, causing cardiac hypertrophy with fibrosis and cardiomyocyte loss distinct from MYH6 R453C, establishing pathway-specific cardiac remodeling mechanisms downstream of the MYH7 mutation. Transgenic pig model (MYH7 R453C vs. MYH6 R453C), RNA-seq, Western blotting for pathway proteins, ROS measurement, H9C2 cell model with mutation Open biology Medium 38862020
2022 CRISPR/Cas9-mediated MYH7 knockout in zebrafish causes impaired cardiovascular development, and a novel missense variant (Leu655Met) in the actin-binding domain of MYH7 is predicted to reduce actin-myosin binding energy, supporting a role for MYH7 in ventricular wall morphogenesis through actin interaction. CRISPR/Cas9 knockout in zebrafish; in silico molecular docking for actin-binding energy; whole-exome sequencing in human LVNC family Frontiers in cardiovascular medicine Low 35463789
1990 The human cardiac β-myosin heavy chain gene (MYH7) was localized to chromosome 14q12 by in situ hybridization, and is tightly linked to the α-MHC gene (MYH6) on this chromosome. In situ hybridization with ³H-labeled probe derived from β-MHC genomic clone Cytogenetics and cell genetics High 2249479
2022 The miR-143-3p–Sox6–Myh7 pathway regulates Myh7 expression in obesity-induced cardiac hypertrophy: miR-143-3p targets Sox6 (a transcriptional repressor of Myh7), and inhibition of miR-143-3p in cardiomyocytes increases Sox6 mRNA and reduces Myh7 expression, preventing angiotensin II-induced cardiomyocyte hypertrophy. Loss-of-function experiments with miR-143-3p inhibitor in cardiomyocytes; qPCR for Sox6 and Myh7; obese mouse model with cardiac hypertrophy Experimental physiology Medium 35765992
2014 Epigenetic modifications at the Myh7 promoter underlie pressure overload-induced upregulation: TAC-induced heart failure is accompanied by distinct histone H3 methylation marks (H3K4me2, H3K9me2, H3K27me3, H3K36me2) and changes in DNA methylation machinery (DNMT1, DNMT3b, MeCP2) at the Myh7 promoter, opposite to those at the Atp2a2 (SERCA-2A) promoter. ChIP assay for histone modifications at Myh7 and Atp2a2 promoters in TAC mouse hearts; qPCR for mRNA levels; assessment of KDM2A and DNMT recruitment PloS one Medium 25181347
2023 MYH7 E848G mutation in hiPSC-CMs increases cardiomyocyte size, reduces maximum engineered heart tissue twitch forces, and increases apoptosis associated with elevated p53 activity; however, genetic ablation of TP53 did not rescue contractile dysfunction or survival, indicating the apoptosis and contractile defect are p53-independent downstream consequences of the mutation. Isogenic hiPSC-CM model (MYH7 E848G/+), engineered heart tissue force measurements, single-cell size quantification, apoptosis assays, TP53 genetic knockout International journal of molecular sciences Medium 36902340
2024 Deep mutational scanning of 113 MYH7 codon variants in hiPSC-CMs showed that pathogenic MYH7 missense variants cause reduced β-MHC protein abundance (confirmed in human HCM heart tissue) and decreased cardiomyocyte survival, providing multiplexed functional evidence that protein instability/loss is a shared mechanism for pathogenic MYH7 variants. CRISPRa-based hiPSC library generation, hiPSC-CM differentiation, massively parallel sequencing for β-MHC variant abundance, cell survival assay; validation in human HCM heart tissue Circulation. Genomic and precision medicine High 38362799

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2018 Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. Genetics in medicine : official journal of the American College of Medical Genetics 272 29300372
2004 Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). American journal of human genetics 167 15322983
2008 Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clinical and translational science 158 19412328
2010 Mutations in the sarcomere gene MYH7 in Ebstein anomaly. Circulation. Cardiovascular genetics 128 21127202
2003 Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. Annals of neurology 122 14520662
2013 Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy. Cardiovascular research 90 23674513
2010 MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. Neurology 79 20733148
2014 Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Human mutation 76 24664454
2018 Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells. JACC. Basic to translational science 70 30623132
2014 Faster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with the R403Q MYH7 mutation. The Journal of physiology 70 24928957
2018 Incident Atrial Fibrillation Is Associated With MYH7 Sarcomeric Gene Variation in Hypertrophic Cardiomyopathy. Circulation. Heart failure 69 30354366
2022 Natural History of MYH7-Related Dilated Cardiomyopathy. Journal of the American College of Cardiology 66 36007715
2016 MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients. Orphanet journal of rare diseases 66 27387980
2021 YTHDF2 alleviates cardiac hypertrophy via regulating Myh7 mRNA decoy. Cell & bioscience 61 34266473
2012 Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement. Neuromuscular disorders : NMD 61 22784669
2009 [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. Revista espanola de cardiologia 58 19150014
2003 Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy. Journal of molecular and cellular cardiology 57 12788380
2003 Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients. Clinical chemistry 57 12881443
1995 Isolation and characterization of a yeast gene, MPD1, the overexpression of which suppresses inviability caused by protein disulfide isomerase depletion. FEBS letters 50 7649260
2013 Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. American heart journal 45 24093860
2007 MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscular disorders : NMD 45 17336526
2017 Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy. Circulation. Cardiovascular imaging 44 28193612
2013 Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7. American journal of medical genetics. Part C, Seminars in medical genetics 44 23794396
2020 Silencing of MYH7 ameliorates disease phenotypes in human iPSC-cardiomyocytes. Physiological genomics 43 32567507
2005 Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. Neurology 42 15699387
2023 MYH7 in cardiomyopathy and skeletal muscle myopathy. Molecular and cellular biochemistry 40 37079208
2011 A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. Neuromuscular disorders : NMD 40 21288719
2012 New phenotype and pathology features in MYH7-related distal myopathy. Neuromuscular disorders : NMD 38 22521714
2005 One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region. European journal of human genetics : EJHG 38 15483641
2021 Inhibition of mTOR or MAPK ameliorates vmhcl/myh7 cardiomyopathy in zebrafish. JCI insight 37 34935644
2006 Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred. Neuromuscular disorders : NMD 37 16684601
2020 Radiomic Analysis of Native T1 Mapping Images Discriminates Between MYH7 and MYBPC3-Related Hypertrophic Cardiomyopathy. Journal of magnetic resonance imaging : JMRI 35 32525266
2014 Epigenetic switch at atp2a2 and myh7 gene promoters in pressure overload-induced heart failure. PloS one 34 25181347
2013 A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies. Neuromuscular disorders : NMD 34 23478172
1994 The electrocardiogram is a more sensitive indicator than echocardiography of hypertrophic cardiomyopathy in families with a mutation in the MYH7 gene. British heart journal 33 7848420
2018 Successful knock-in of Hypertrophic Cardiomyopathy-mutation R723G into the MYH7 gene mimics HCM pathology in pigs. Scientific reports 32 29555974
2007 Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation. Neuromuscular disorders : NMD 31 17383184
2019 Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype. Human mutation 30 30924982
2013 Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7. Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 30 21604106
2009 Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. Neuromuscular disorders : NMD 29 19138847
2017 Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathy. European journal of medical genetics 27 28642161
2013 Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation. American journal of medical genetics. Part A 27 23956225
2019 A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat. European journal of human genetics : EJHG 25 31164718
2017 Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy. Journal of muscle research and cell motility 25 29101517
2015 Coexistence of Digenic Mutations in Both Thin (TPM1) and Thick (MYH7) Filaments of Sarcomeric Genes Leads to Severe Hypertrophic Cardiomyopathy in a South Indian FHCM. DNA and cell biology 25 25607779
2011 A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India. Molecular and cellular biochemistry 25 21959974
2015 Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy. Neuromuscular disorders : NMD 24 25666907
2018 Detection of Plasmid-Mediated β-Lactamase Genes and Emergence of a Novel AmpC (CMH-1) in Enterobacter cloacae at a Medical Center in Southern Taiwan. Journal of clinical medicine 23 30577544
2017 A triple stranded G-quadruplex formation in the promoter region of human myosin β(Myh7) gene. Journal of biomolecular structure & dynamics 22 28927343
2013 Prenatal ultrasound diagnosis of MYH7 non-compaction cardiomyopathy. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 21 22859017
2020 Allele-Selective Knockdown of MYH7 Using Antisense Oligonucleotides. Molecular therapy. Nucleic acids 20 32092825
2019 Digenic Inheritance of LAMA4 and MYH7 Mutations in Patient with Infantile Dilated Cardiomyopathy. Medicina (Kaunas, Lithuania) 20 30650640
2013 Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy. Circulation journal : official journal of the Japanese Circulation Society 20 23782526
2018 Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation. Scientific reports 19 29343710
2022 A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank. Human molecular genetics 18 34542152
2017 A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects. Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 18 28864942
2015 Dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 genes in a three-generation Chinese family. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 18 25825456
2023 Long-Term Prevalence of Systolic Dysfunction in MYBPC3 Versus MYH7-Related Hypertrophic Cardiomyopathy. Circulation. Genomic and precision medicine 17 37409452
2022 Circulating miR-499a-5p Is a Potential Biomarker of MYH7-Associated Hypertrophic Cardiomyopathy. International journal of molecular sciences 17 35409153
2022 A Novel Missense Variant in Actin Binding Domain of MYH7 Is Associated With Left Ventricular Noncompaction. Frontiers in cardiovascular medicine 17 35463789
2014 Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene. Journal of neurology, neurosurgery, and psychiatry 17 24828896
2010 Genetic variations of β-MYH7 in hypertrophic cardiomyopathy and dilated cardiomyopathy. Indian journal of human genetics 17 21031054
1990 Localization of human cardiac beta-myosin heavy chain gene (MYH7) to chromosome 14q12 by in situ hybridization. Cytogenetics and cell genetics 17 2249479
2021 Myocardial Deformation Analysis in MYBPC3 and MYH7 Related Sarcomeric Hypertrophic Cardiomyopathy-The Graz Hypertrophic Cardiomyopathy Registry. Genes 16 34680864
2020 Left Bundle Pacing for Left Bundle Branch Block and Intermittent Third-Degree Atrioventricular Block in a MYH7 Mutation-Related Hypertrophic Cardiomyopathy With Restrictive Phenotype in a Child. Frontiers in pediatrics 16 32612965
2013 A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement. Neuromuscular disorders : NMD 16 23707328
2012 Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy. The Journal of molecular diagnostics : JMD 16 22765922
2012 A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs. BMC genetics 16 23153285
2013 Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy. Neuromuscular disorders : NMD 15 24300783
2011 Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients. Clinical genetics 15 21395566
2023 Cardiomyocyte Apoptosis Is Associated with Contractile Dysfunction in Stem Cell Model of MYH7 E848G Hypertrophic Cardiomyopathy. International journal of molecular sciences 14 36902340
2019 Different Clinical Presentation and Tissue Characterization in a Monozygotic Twin Pair with MYH7 Mutation-Related Hypertrophic Cardiomyopathy. International heart journal 14 30745532
2019 Recessive MYH7-related myopathy in two families. Neuromuscular disorders : NMD 14 31130376
2016 Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants. Neuromuscular disorders : NMD 14 27282841
2024 Multiplexed Functional Assessments of MYH7 Variants in Human Cardiomyocytes. Circulation. Genomic and precision medicine 13 38362799
2024 Incomplete-penetrant hypertrophic cardiomyopathy MYH7 G256E mutation causes hypercontractility and elevated mitochondrial respiration. Proceedings of the National Academy of Sciences of the United States of America 13 38683993
2021 Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy. Genetics in medicine : official journal of the American College of Medical Genetics 13 33568804
2019 Hypertrophic cardiomyopathy MYH7 mutation R723G alters mRNA secondary structure. Physiological genomics 13 31790337
2017 Generation of induced pluripotent stem cells (iPSCs) from a hypertrophic cardiomyopathy patient with the pathogenic variant p.Val698Ala in beta-myosin heavy chain (MYH7) gene. Stem cell research 13 28395747
2017 The Cumulative Effects of the MYH7-V878A and CACNA1C-A1594V Mutations in a Chinese Family with Hypertrophic Cardiomyopathy. Cardiology 13 28866666
2016 Electrochemical primer extension for the detection of single nucleotide polymorphisms in the cardiomyopathy associated MYH7 gene. Chemical communications (Cambridge, England) 13 26567828
2016 Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture. BMC medical genetics 13 27519903
2015 A rare mutation in MYH7 gene occurs with overlapping phenotype. Biochemical and biophysical research communications 13 25576864
2014 A novel MYH7 gene mutation in a fetus with left ventricular noncompaction. The Canadian journal of cardiology 13 25547560
2021 Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control. Stem cell research 12 33610018
2018 Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement. Muscle & nerve 12 29624713
2014 Whole-exome sequencing identify a new mutation of MYH7 in a Chinese family with left ventricular noncompaction. Gene 12 25550050
2019 Genetic analysis of monoallelic double MYH7 mutations responsible for familial hypertrophic cardiomyopathy. Molecular medicine reports 11 31638223
2015 Two families with MYH7 distal myopathy associated with cardiomyopathy and core formations. Journal of clinical neuromuscular disease 11 25695922
2024 Atrial Fibrillation Substrate and Catheter Ablation Outcomes in MYBPC3- and MYH7-Mediated Hypertrophic Cardiomyopathy. JACC. Clinical electrophysiology 10 38819352
2024 MYH7 R453C induced cardiac remodelling via activating TGF-β/Smad2/3, ERK1/2 and Nox4/ROS/NF-κB signalling pathways. Open biology 10 38862020
2022 The miRNA-143-3p-Sox6-Myh7 pathway is altered in obesogenic diet-induced cardiac hypertrophy. Experimental physiology 10 35765992
2021 Association of variants in MYH7, MYBPC3 and TNNT2 with sudden cardiac death-related risk factors in Brazilian patients with hypertrophic cardiomyopathy. Forensic science international. Genetics 10 33588347
2017 MYH7 mutation associated with two phenotypes of myopathy. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 10 29170849
2016 Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study. Arquivos brasileiros de cardiologia 10 27737317
2007 Mutation of the MYH7 gene in a child with hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome. Journal of applied genetics 10 17495353
2019 A rare case of familial restrictive cardiomyopathy, with mutations in MYH7 and ABCC9 genes. Discoveries (Craiova, Romania) 9 32309617
2018 A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain. Neuromuscular disorders : NMD 9 30166250
2016 A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation. PloS one 9 28002430
2014 A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family. Neuromuscular disorders : NMD 9 25447691