Affinage

MYH7

Myosin-7 · UniProt P12883

Length
1935 aa
Mass
223.1 kDa
Annotated
2026-06-10
100 papers in source corpus 23 papers cited in narrative 23 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

MYH7 encodes β-myosin heavy chain (β-MHC), the predominant force-generating motor of cardiac ventricular and slow-twitch skeletal muscle, in which mutations directly perturb sarcomeric mechanics rather than acting solely through secondary remodelling (PMID:23674513). Mutations in the globular S1 motor/head domain corrupt cross-bridge cycling in distinct ways: R403Q accelerates cross-bridge detachment and elevates the energetic tension cost of contraction (PMID:24928957), whereas G256E in the transducer region reduces the fraction of myosin heads sequestered in the folded-back super-relaxed state, liberating more heads for contraction and producing a hypercontractile phenotype with secondary upregulation of mitochondrial respiration (PMID:38683993). Head-domain mutations also enhance myofilament Ca²⁺ sensitivity, driving abnormal calcium handling, cardiomyocyte hypertrophy and diastolic dysfunction that is aggravated by the calcium sensitizer levosimendan and reversed by the myosin inhibitor mavacamten (PMID:38101154), and can impair the functional interaction between β-MHC and cardiac myosin binding protein C (PMID:30623132). In contrast, mutations toward the 3′ rod/coiled-coil tail disrupt thick-filament assembly, causing Laing-type distal myopathy (PMID:15322983) and myosin storage myopathy with aberrant β-MHC aggregation in skeletal fibers (PMID:14520662). Loss or mutation of MYH7 engages downstream signalling — mTOR and MAPK in zebrafish (PMID:34935644), and TGF-β/Smad2/3, ERK1/2 and Nox4/ROS/NF-κB in transgenic pig models (PMID:38862020) — linking the primary motor defect to fibrosis, hypertrophy and inflammation. β-MHC abundance is itself tightly controlled: m6A-marked Myh7 mRNA is bound by the reader YTHDF2 and targeted for decay to restrain hypertrophy (PMID:34266473), and the gene shows burst-like stochastic allelic transcription that generates cell-to-cell imbalance in mutant versus wildtype expression and heterogeneous Ca²⁺ sensitivity (PMID:29686627, PMID:29101517). These properties make allele-selective knockdown of mutant transcripts a tractable strategy for rescuing contractile defects (PMID:32567507), and multiplexed deep mutational scanning resolves pathogenic from benign variants via β-MHC protein loss and cardiomyocyte survival (PMID:38362799).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 1990 Medium

    Establishing the chromosomal location of the cardiac β-MHC gene provided the genomic anchor needed to link MYH7 to inherited muscle disease.

    Evidence in situ hybridization of a β-MHC genomic probe to human chromosomes

    PMID:2249479

    Open questions at the time
    • Does not address gene function or mutation consequences
    • No connection to specific disease at this stage
  2. 2004 Medium

    Mapping rod/tail mutations to a distinct skeletal myopathy clarified that MYH7 domain location dictates disease phenotype — head mutations cause cardiomyopathy while coiled-coil mutations cause distal myopathy.

    Evidence MYH7 sequencing across six families with early-onset distal myopathy plus in silico coiled-coil disruption analysis (extending myosin storage myopathy findings from 2003)

    PMID:14520662 PMID:15322983

    Open questions at the time
    • Coiled-coil disruption is predicted in silico, not reconstituted biochemically
    • How disrupted assembly leads to fiber-type-specific aggregation not resolved
  3. 2013 High

    Direct force measurements established that MYH7 head-domain mutations cause an intrinsic sarcomeric force deficit, distinguishing a primary motor defect from cardiomyocyte remodelling.

    Evidence force measurements in single membrane-permeabilized cardiomyocytes and myofibrils from HCM patient surgical samples versus controls

    PMID:23674513

    Open questions at the time
    • Does not resolve the molecular step of cross-bridge cycling that is altered
    • Single force-deficit phenotype does not generalize to all head mutations
  4. 2014 High

    Resolving the kinetic and energetic signature of R403Q showed that some HCM mutations act by accelerating cross-bridge detachment and raising tension cost, defining a specific mechanochemical lesion.

    Evidence single myofibril kinetics and multicellular muscle strip tension-cost measurements in R403Q patient samples, with single-cell RT-qPCR for allele expression

    PMID:24928957

    Open questions at the time
    • Mechanism may be specific to R403Q and not universal across head mutations
    • Link between detachment kinetics and clinical hypertrophy not mechanistically traced
  5. 2014 Medium

    Demonstrating chromatin-state changes at the Myh7 promoter during heart failure connected upstream epigenetic regulation to pathological β-MHC upregulation.

    Evidence ChIP for histone marks and DNA-methylation machinery occupancy at the Myh7 promoter in murine TAC hearts

    PMID:25181347

    Open questions at the time
    • Causality between histone marks and transcription not tested by perturbation
    • Does not identify the initiating signal for chromatin remodelling
  6. 2018 Medium

    Single-cell allele studies revealed that MYH7 is transcribed in stochastic bursts independently per allele, explaining cell-to-cell heterogeneity in mutant fraction and Ca²⁺ sensitivity.

    Evidence single-cell RT-qPCR with allele-specific restriction digest, intronic/exonic pre-mRNA FISH, single-cell force-Ca²⁺ measurements and modeling (with 2017 demonstration that allelic imbalance exists in donors as well as HCM patients)

    PMID:29101517 PMID:29686627

    Open questions at the time
    • Single lab; mechanism controlling burst frequency unknown
    • Functional impact of heterogeneity on whole-tissue mechanics not directly measured
  7. 2018 Medium

    Isogenic large-animal and hiPSC models established that single point mutations are sufficient to cause HCM pathology and that the E848G motor mutation impairs contractility, possibly via the β-MHC/cMyBP-C interaction.

    Evidence TALEN knock-in R723G porcine model with histopathology; patient and CRISPR-isogenic hiPSC-CMs with single-cell and engineered-heart-tissue contractility and co-IP

    PMID:29555974 PMID:30623132

    Open questions at the time
    • β-MHC/cMyBP-C interaction inferred, not demonstrated by reconstitution
    • R723G piglet lethality limits study of chronic disease progression
  8. 2019 Low

    RNA-level studies showed that a coding mutation (R723G) alters mRNA secondary structure and that other rod mutations disrupt myosin self-assembly, broadening MYH7 pathogenesis beyond protein mechanics into transcript stability and filament assembly.

    Evidence SHAPE RNA structure probing of R723G transcript; COS-7 overexpression assembly assays of Arg1712Trp and rod proline mutants

    PMID:27519903 PMID:31130376 PMID:31790337

    Open questions at the time
    • mRNA lifetime consequence inferred from structure, not directly measured
    • Assembly defects shown in non-muscle cells only, without sarcomeric context for some mutants
  9. 2021 Medium

    Identifying YTHDF2-mediated m6A decay of Myh7 mRNA and the mTOR/MAPK requirement in vmhcl-deficient zebrafish defined post-transcriptional and signalling control layers governing β-MHC levels and downstream cardiomyopathy.

    Evidence IP-MS, RIP and rescue assays for YTHDF2-Myh7 in cardiomyocytes/HF mice; CRISPR zebrafish vmhcl mutants with pharmacological and genetic mTOR/MAPK epistasis

    PMID:34266473 PMID:34935644

    Open questions at the time
    • m6A sites on Myh7 not mapped at nucleotide resolution
    • How loss of motor function activates mTOR/MAPK mechanistically unresolved
  10. 2024 High

    Direct biochemical measurement of the super-relaxed state for G256E, and Ca²⁺-sensitivity/pharmacology for E848G, pinned hypercontractility and enhanced calcium sensitivity as primary, drug-modifiable HCM mechanisms.

    Evidence CRISPR-isogenic hiPSC-CMs with myofibril force, biochemical folded-back-state assays, single-cell transcriptomics (G256E); Ca²⁺ handling and mavacamten/levosimendan rescue (E848G)

    PMID:38101154 PMID:38683993

    Open questions at the time
    • Whether SRX destabilization generalizes across head mutations not established
    • Long-term and in vivo consequences of altered SRX fraction untested
  11. 2024 Medium

    Isoform-specific signalling profiling and multiplexed variant scanning advanced MYH7 toward translation by defining fibrotic/inflammatory pathways and a functional pathogenicity classifier, while p53 epistasis ruled out apoptosis as the driver of contractile failure.

    Evidence transgenic MYH7 vs MYH6 R453C pig and H9C2 models with signalling readouts; deep mutational scanning of 113 codon variants in hiPSC-CMs; TP53-knockout epistasis in E848G hiPSC-CMs; allele-selective shRNA/ASO knockdown

    PMID:32567507 PMID:36902340 PMID:38362799 PMID:38862020

    Open questions at the time
    • Signalling cascades shown by association/inhibition, not full causal dissection
    • Allele-selective knockdown efficacy and selectivity tradeoffs not yet optimized for therapy

Open questions

Synthesis pass · forward-looking unresolved questions
  • How the diverse primary lesions (cross-bridge kinetics, SRX state, Ca²⁺ sensitivity, mRNA stability, filament assembly) converge on shared hypertrophic and fibrotic signalling, and which node is the optimal therapeutic target, remains unresolved.
  • No unified model linking distinct biophysical defects to common downstream signalling
  • Mutation-class-specific therapeutic stratification not established

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0003774 cytoskeletal motor activity 3 GO:0005198 structural molecule activity 3 GO:0008092 cytoskeletal protein binding 2 GO:0140657 ATP-dependent activity 2
Localization
GO:0005856 cytoskeleton 3
Pathway
R-HSA-1643685 Disease 4 R-HSA-397014 Muscle contraction 3 R-HSA-162582 Signal Transduction 2 R-HSA-8953854 Metabolism of RNA 2
Partners
MYBPC3
Complex memberships
sarcomere thick filament

Evidence

Reading pass · 23 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 maximal force generating capacity of sarcomeres at both maximal and submaximal Ca2+ concentrations, an intrinsic sarcomere defect distinct from cardiomyocyte remodelling. In single myofibril preparations, MYH7mut showed very low Fmax (~73 kN/m²) compared to donor (~113 kN/m²), and this reduction persisted after correction for myofibril density, unlike MYBPC3 mutations. Force measurements in single membrane-permeabilized cardiomyocytes and single myofibrils from surgical cardiac samples of HCM patients with MYH7 mutations versus controls Cardiovascular research High 23674513
2014 The R403Q mutation in MYH7 (located in the S1 actin-binding/motor domain) causes faster cross-bridge detachment kinetics and significantly higher energetic cost of tension generation (tension cost) compared to sarcomere mutation-negative HCM. Cross-bridge slow relaxation kinetics in single R403Q myofibrils was significantly higher than in HCMsmn myofibrils, and this correlated positively with tension cost in muscle strips. Single cardiac myofibril force measurements and multicellular cardiac muscle strip tension cost measurements in samples from R403Q HCM patients versus HCMsmn patients; single-cell RT-qPCR confirmed ~41% mutant allele expression The Journal of physiology High 24928957
2004 Heterozygous mutations toward the 3' end of MYH7 (encoding the myosin tail/coiled-coil rod region) cause Laing-type early-onset distal myopathy. In silico analysis predicts these mutations locally disrupt the coiled-coil structure of the myosin tail, distinguishing them from head-domain mutations that cause cardiomyopathy. MYH7 gene sequencing in six families with early-onset distal myopathy; in silico coiled-coil disruption analysis of five novel mutations (Arg1500Pro, Lys1617del, Ala1663Pro, Leu1706Pro, Lys1729del) American journal of human genetics Medium 15322983
2003 A missense mutation in the rod region of MYH7 (Arg1845Trp) causes myosin storage myopathy, characterized by accumulation of slow/β-cardiac MyHC in large inclusions in type 1 skeletal muscle fibers, indicating this residue is essential for proper thick filament assembly in skeletal muscle. Clinical characterization and muscle biopsy immunohistochemistry/histology in patients from two families; genetic sequencing of MYH7 Annals of neurology Medium 14520662
2018 The MYH7 E848G mutation (in the motor domain) reduces contractile function in hiPSC-derived cardiomyocytes at single-cell and engineered heart tissue levels. Genome-edited isogenic cells confirmed pathogenicity. Reduced contractility may result from impaired interaction between MYH7 (β-MHC) and cardiac myosin binding protein C (cMyBP-C). Patient-specific iPSC-derived cardiomyocytes, isogenic CRISPR-edited controls, single-cell contractility measurements, engineered heart tissue assays, co-IP/interaction inference JACC. Basic to translational science Medium 30623132
2021 The m6A reader YTHDF2 binds Myh7 mRNA in an m6A-dependent manner (interaction increases upon hypertrophic stimulation with ISO or PHE) and promotes its decay, thereby suppressing cardiac hypertrophy. Knockdown of Myh7 or deletion of the YTH domain of YTHDF2 reversed the protective effects of YTHDF2. Immunoprecipitation with mass spectrometry (IP-MS) of YTHDF2-interacting mRNAs, RIP assay, knockdown/overexpression in primary cardiomyocytes and HF mouse model, Western blotting, real-time PCR Cell & bioscience Medium 34266473
2018 Burst-like (stochastic on/off) transcription of MYH7 alleles, acting independently for mutant and wildtype alleles, generates large cell-to-cell variation in the fraction of mutant vs. wildtype MYH7 mRNA and protein in HCM cardiomyocytes, resulting in highly heterogeneous Ca²⁺-sensitivity among individual cells. ~27% of nuclei showed no active transcription sites, inconsistent with continuous transcription. Single-cell RT-qPCR with restriction digest for allele quantification; fluorescence in situ hybridization (FISH) of intronic and exonic MYH7 pre-mRNA to visualize active transcription sites in laser-microdissected cardiomyocytes; single-cell force-Ca²⁺ relationship measurements; mathematical modeling Frontiers in physiology Medium 29686627
2019 The HCM point mutation R723G in MYH7 alters the secondary structure of the resulting mRNA (detected by SHAPE analysis), which is proposed to prolong mutant mRNA lifetime and thereby cause the observed allelic imbalance (~67% mutant MYH7 mRNA in R723G patients). Selective 2'-hydroxyl acylation analyzed by primer extension (SHAPE) on in vitro transcribed wild-type and MYH7-R723G RNA; bioinformatic secondary structure prediction Physiological genomics Medium 31790337
2014 Epigenetic reprogramming at the Myh7 promoter during pressure overload-induced heart failure involves opposite histone H3 modifications (H3K4me2, H3K9me2, H3K27me3, H3K36me2) and changes in DNA methylation machinery (DNMT1, DNMT3b, MeCP2) recruitment, mechanistically linking chromatin state changes to Myh7 upregulation in failing myocardium. Chromatin immunoprecipitation (ChIP) for histone marks at Myh7 promoter in murine TAC hearts; ChIP and promoter occupancy assays for DNA methylation enzymes; RT-PCR for mRNA expression PloS one Medium 25181347
2017 Allelic imbalance of MYH7 expression (unequal expression of mutant vs. wildtype alleles) occurs both in HCM patients with various MYH7 missense mutations and in non-HCM donors, indicating that intrinsic MYH7 expression regulation independent of the disease-causing mutation contributes to allelic imbalance. This was demonstrated at both the mRNA and protein levels. Single-cell RT-qPCR with restriction digest allele quantification in laser-microdissected cardiomyocytes; protein-level allelic imbalance assays; comparison across HCM patients and non-HCM donor myocardium Journal of muscle research and cell motility Medium 29101517
2021 Loss-of-function of vmhcl (the zebrafish MYH7 ortholog) induces cardiomyopathy, and pharmacological/genetic inhibition of either mTOR or MAPK signaling rescues the cardiomyopathy phenotype. mTOR inhibition rescued enlarged cardiomyocyte nuclear size while MAPK inhibition restored prolonged cardiomyocyte cell shape, indicating vmhcl/MYH7 loss activates both mTOR and MAPK pathways. CRISPR/Cas9 (MMEJ) frameshift mutants in zebrafish; pharmacological screening of 7 signaling pathways; genetic epistasis by CRISPR knockout of 11 candidate genes; cardiac function measurements in embryonic and adult zebrafish JCI insight Medium 34935644
2024 The MYH7 R453C mutation in transgenic piglets activates TGF-β/Smad2/3, ERK1/2, and Nox4/ROS/NF-κB signaling pathways, causing cardiac fibrosis, cardiomyocyte loss, increased reactive oxygen species, fetal gene re-expression, and inflammatory response—phenotypes not seen with MYH6 R453C—demonstrating isoform-specific pathological signaling. Transgenic MYH7 R453C and MYH6 R453C pig models; RNA-seq; Western blotting for phospho-Smad2/3, phospho-ERK1/2, phospho-NF-kB p65; Nox4/ROS quantification; H9C2 cardiomyocyte models; drug rescue with epigallocatechin gallate Open biology Medium 38862020
2024 The MYH7 G256E mutation (in the transducer region of the S1 head) reduces the fraction of myosin heads in the folded-back (super-relaxed) state by 33%, resulting in more myosin heads available for contraction, faster and greater tension development in myofibrils, and a hypercontractile phenotype at cell and tissue level. Single-cell transcriptomics and metabolic profiling showed upregulated mitochondrial genes and increased mitochondrial respiration as secondary consequences. CRISPR gene-edited MYH7WT/G256E hiPSC-CMs; myofibril force measurements; single-cell contractility; engineered heart tissue; biochemical assay of myosin folded-back state fraction; single-cell transcriptomics; metabolic profiling Proceedings of the National Academy of Sciences of the United States of America High 38683993
2023 The MYH7 E848G/+ mutation increases myofilament Ca²⁺ sensitivity and causes cardiomyocyte hypertrophy, abnormal calcium handling, and diastolic dysfunction in hiPSC-CMs. Increased calcium sensitivity by levosimendan aggravated these phenotypes, while inhibition by mavacamten significantly improved them, establishing enhanced myofilament calcium sensitivity as a primary pathogenic mechanism for MYH7-mutation HCM. Patient-derived iPSC-CMs with isogenic mutation-corrected controls; morphological, Ca²⁺ handling, diastolic function, and myofilament Ca²⁺ sensitivity assays; pharmacological gain/loss-of-function with levosimendan and mavacamten Cell calcium Medium 38101154
2018 Knock-in of the HCM point mutation R723G into the porcine MYH7 gene by TALEN-mediated genome editing produced heterozygous piglets that died within 24 h post-partum with HCM features including myocyte disarray, malformed nuclei, and MYH7 overexpression, demonstrating that this single mutation is sufficient to cause HCM pathology. A shift in α/β-MyHC ratio in the left ventricle was observed. TALEN-mediated genome editing in porcine fibroblasts followed by somatic cell nuclear transfer cloning; histopathology; MyHC isoform ratio analysis; off-target assessment Scientific reports Medium 29555974
2019 Expression of the recessive MYH7 Arg1712Trp mutant protein in COS-7 cells caused abnormal myosin aggregation compared to wild-type, establishing that this mutation disrupts normal myosin self-assembly. Transient transfection of mutant MYH7 constructs into COS-7 cells; immunofluorescence microscopy to assess myosin aggregation versus wild-type Neuromuscular disorders : NMD Low 31130376
2016 Two proline substitutions in the MYH7 rod domain (p.Ala1437Pro and p.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 when expressed in muscle cell context. Cell culture transfection of mutant MYH7 constructs into non-muscle cells followed by immunofluorescence imaging of myosin assembly; whole exome sequencing for mutation identification BMC medical genetics Low 27519903
1990 The human cardiac β-myosin heavy chain gene (MYH7) was localized to chromosome 14q12 by in situ hybridization. In situ hybridization of ³H-labeled β-MHC genomic probe to human chromosomes Cytogenetics and cell genetics Medium 2249479
2023 The MYH7 E848G/+ mutation causes increased cardiomyocyte apoptosis associated with elevated p53 activity in hiPSC-CMs. However, genetic ablation of TP53 did not rescue cardiomyocyte survival or restore engineered heart tissue contractile force, demonstrating that MYH7 E848G/+-induced cardiomyocyte apoptosis and contractile dysfunction are p53-independent. Isogenic MYH7E848G/+ and control hiPSC-CMs; TP53 genetic knockout by CRISPR; apoptosis assays; engineered heart tissue twitch force measurements International journal of molecular sciences Medium 36902340
2024 Multiplexed deep mutational scanning of 113 MYH7 codon variants in hiPSC-derived cardiomyocytes showed that β-MHC protein loss occurs in pathogenic MYH7 variant HCM hearts, and that multiplexed assessment of β-MHC variant abundance and cardiomyocyte survival accurately segregated all known pathogenic variants from synonymous variants. CRISPRa On-Target Editing Retrieval (COTER) to generate hiPSC library with 113 MYH7 codon variants; hiPSC differentiation to cardiomyocytes; massively parallel sequencing for β-MHC abundance; cell survival assays; validation in human HCM heart tissue Circulation. Genomic and precision medicine Medium 38362799
2020 Allele-selective knockdown of mutant MYH7 transcripts using shRNA ameliorates contractile defects (reducing disease-associated increases in cardiomyocyte velocity, force, and power) in hiPSC-CMs from HCM patients. ASO-mediated allele-selective knockdown targeting SNPs showed more selective allele targeting but more modest functional improvement. shRNA and antisense oligonucleotide (ASO) delivery in hiPSC-CMs; traction force microscopy on micropatterning devices; automated video contractility analysis Physiological genomics Medium 32567507
2015 miR-143-3p regulates MYH7 expression through the HDAC4-MEF2 pathway. Overexpression of miR-143-3p in porcine skeletal muscle satellite cells increased MYH7 (slow muscle fiber) gene and protein expression, while inhibition reduced it. Cell transfection with miR-143-3p mimics and inhibitors in porcine skeletal muscle satellite cells; qRT-PCR and Western blot for MYH7; pathway analysis implicating HDAC4-MEF2 PloS one Low 25915937
2022 In female mice fed an obesogenic diet, cardiac hypertrophy is associated with increased miR-143-3p, decreased Sox6 mRNA (a direct repressor of Myh7 transcription), and increased Myh7 expression. Inhibition of miR-143-3p in cardiomyocytes increased Sox6 mRNA and reduced Myh7 expression, and prevented angiotensin II-induced cardiomyocyte hypertrophy, establishing a miR-143-3p → Sox6 ⊣ Myh7 regulatory axis. Loss-of-function miR-143-3p inhibition in primary cardiomyocytes; RT-PCR for Sox6 and Myh7; in vivo obesogenic diet mouse model; bioinformatic target prediction Experimental physiology Low 35765992

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 274 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 159 19412328
2010 Mutations in the sarcomere gene MYH7 in Ebstein anomaly. Circulation. Cardiovascular genetics 129 21127202
2003 Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. Annals of neurology 123 14520662
2013 Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy. Cardiovascular research 91 23674513
2010 MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. Neurology 80 20733148
2014 Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Human mutation 78 24664454
2018 Incident Atrial Fibrillation Is Associated With MYH7 Sarcomeric Gene Variation in Hypertrophic Cardiomyopathy. Circulation. Heart failure 73 30354366
2018 Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells. JACC. Basic to translational science 71 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
2016 MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients. Orphanet journal of rare diseases 69 27387980
2022 Natural History of MYH7-Related Dilated Cardiomyopathy. Journal of the American College of Cardiology 68 36007715
2021 YTHDF2 alleviates cardiac hypertrophy via regulating Myh7 mRNA decoy. Cell & bioscience 64 34266473
2012 Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement. Neuromuscular disorders : NMD 62 22784669
2009 [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. Revista espanola de cardiologia 59 19150014
1996 Processing and activation of CMH-1 by granzyme B. The Journal of biological chemistry 58 8631895
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 48 24093860
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 46 28193612
2007 MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscular disorders : NMD 45 17336526
2020 Silencing of MYH7 ameliorates disease phenotypes in human iPSC-cardiomyocytes. Physiological genomics 44 32567507
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
2023 MYH7 in cardiomyopathy and skeletal muscle myopathy. Molecular and cellular biochemistry 42 37079208
2011 A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. Neuromuscular disorders : NMD 40 21288719
2021 Inhibition of mTOR or MAPK ameliorates vmhcl/myh7 cardiomyopathy in zebrafish. JCI insight 39 34935644
2018 Burst-Like Transcription of Mutant and Wildtype MYH7-Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic Cardiomyopathy. Frontiers in physiology 39 29686627
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
2020 Radiomic Analysis of Native T1 Mapping Images Discriminates Between MYH7 and MYBPC3-Related Hypertrophic Cardiomyopathy. Journal of magnetic resonance imaging : JMRI 37 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
2011 A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient. Journal of neurology 34 21279644
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
2015 MicroRNA Transcriptome Profile Analysis in Porcine Muscle and the Effect of miR-143 on the MYH7 Gene and Protein. PloS one 32 25915937
2011 Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy. Neuromuscular disorders : NMD 32 21211974
2019 Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype. Human mutation 31 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
2017 Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy. Journal of muscle research and cell motility 27 29101517
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
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
2020 Allele-Selective Knockdown of MYH7 Using Antisense Oligonucleotides. Molecular therapy. Nucleic acids 22 32092825
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
2023 Long-Term Prevalence of Systolic Dysfunction in MYBPC3 Versus MYH7-Related Hypertrophic Cardiomyopathy. Circulation. Genomic and precision medicine 20 37409452
2022 A Novel Missense Variant in Actin Binding Domain of MYH7 Is Associated With Left Ventricular Noncompaction. Frontiers in cardiovascular medicine 20 35463789
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
2022 A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank. Human molecular genetics 19 34542152
2018 Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation. Scientific reports 19 29343710
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
2010 Genetic variations of β-MYH7 in hypertrophic cardiomyopathy and dilated cardiomyopathy. Indian journal of human genetics 18 21031054
2022 Circulating miR-499a-5p Is a Potential Biomarker of MYH7-Associated Hypertrophic Cardiomyopathy. International journal of molecular sciences 17 35409153
2021 Myocardial Deformation Analysis in MYBPC3 and MYH7 Related Sarcomeric Hypertrophic Cardiomyopathy-The Graz Hypertrophic Cardiomyopathy Registry. Genes 17 34680864
2014 Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene. Journal of neurology, neurosurgery, and psychiatry 17 24828896
2014 A polymorphism in the porcine miR-208b is associated with microRNA biogenesis and expressions of SOX-6 and MYH7 with effects on muscle fibre characteristics and meat quality. Animal genetics 17 25530254
1990 Localization of human cardiac beta-myosin heavy chain gene (MYH7) to chromosome 14q12 by in situ hybridization. Cytogenetics and cell genetics 17 2249479
2024 MYH7 R453C induced cardiac remodelling via activating TGF-β/Smad2/3, ERK1/2 and Nox4/ROS/NF-κB signalling pathways. Open biology 16 38862020
2023 Cardiomyocyte Apoptosis Is Associated with Contractile Dysfunction in Stem Cell Model of MYH7 E848G Hypertrophic Cardiomyopathy. International journal of molecular sciences 16 36902340
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
2019 Different Clinical Presentation and Tissue Characterization in a Monozygotic Twin Pair with MYH7 Mutation-Related Hypertrophic Cardiomyopathy. International heart journal 15 30745532
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
2024 Atrial Fibrillation Substrate and Catheter Ablation Outcomes in MYBPC3- and MYH7-Mediated Hypertrophic Cardiomyopathy. JACC. Clinical electrophysiology 14 38819352
2019 Recessive MYH7-related myopathy in two families. Neuromuscular disorders : NMD 14 31130376
2019 Hypertrophic cardiomyopathy MYH7 mutation R723G alters mRNA secondary structure. Physiological genomics 14 31790337
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
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 13 33588347
2017 The Cumulative Effects of the MYH7-V878A and CACNA1C-A1594V Mutations in a Chinese Family with Hypertrophic Cardiomyopathy. Cardiology 13 28866666
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
2023 Enhanced myofilament calcium sensitivity aggravates abnormal calcium handling and diastolic dysfunction in patient-specific induced pluripotent stem cell-derived cardiomyocytes with MYH7 mutation. Cell calcium 12 38101154
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
2019 Genetic analysis of monoallelic double MYH7 mutations responsible for familial hypertrophic cardiomyopathy. Molecular medicine reports 12 31638223
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
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 11 27737317
2015 Two families with MYH7 distal myopathy associated with cardiomyopathy and core formations. Journal of clinical neuromuscular disease 11 25695922
2022 The miRNA-143-3p-Sox6-Myh7 pathway is altered in obesogenic diet-induced cardiac hypertrophy. Experimental physiology 10 35765992
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
2007 Mutation of the MYH7 gene in a child with hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome. Journal of applied genetics 10 17495353
2022 Genetic Association of Beta-Myosin Heavy-Chain Gene (MYH7) with Cardiac Dysfunction. Genes 9 36140722
2021 Novel Mutations in β-MYH7 Gene in Indian Patients With Dilated Cardiomyopathy. CJC open 9 35072022
2019 Screening of MYH7 gene mutation sites in hypertrophic cardiomyopathy and its significance. Chinese medical journal 9 31856055
2018 A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain. Neuromuscular disorders : NMD 9 30166250
2014 A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family. Neuromuscular disorders : NMD 9 25447691

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