Affinage

MYH6

Myosin-6 · UniProt P13533

Length
1939 aa
Mass
223.7 kDa
Annotated
2026-06-10
47 papers in source corpus 17 papers cited in narrative 19 extracted findings
Cross-family judge faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

MYH6 encodes the α-cardiac myosin heavy chain, the sarcomeric motor whose coiled-coil tail polymerizes into thick filaments and whose motor domain drives actin-dependent cardiac contraction; loss of this activity yields non-contractile hearts and disrupted cardiomyocyte cytoskeleton, while early cardiac morphogenesis can still proceed (PMID:19769958). In vivo loss of α-MHC compromises sarcomere integrity and pump function with predominantly atrial impact, producing atrial hypoplasia, disordered sarcomeres, and transcriptomic shifts in muscle development, calcium homeostasis, and sarcomere pathways (PMID:31129720, PMID:42236494); consistent with α-MHC's predominant atrial expression, human variant carriers show selectively impaired atrial contractile strain (PMID:39596649). Pathogenic missense and insertion variants act through the motor and tail domains to alter myofibril assembly and sarcomere organization—some disrupting and one even enhancing assembly—and tail-domain insertions destabilize the α-helix to promote aberrant self-aggregation (PMID:20656787, PMID:34481090). Isogenic CRISPR/base-edited hiPSC-cardiomyocyte models causally tie head-domain variants (R443P, R725C) to dysmorphic sarcomeres, a switch to exclusive MYH7 (β-MHC) expression, reduced contraction and shortening velocity, F-actin redistribution, cellular hypertrophy, and TGF-β1–driven fibroblast activation that is reversible by TGF-β1 receptor blockade (PMID:32656206, PMID:41440879). The locus is regulated at multiple levels: a stress-activated BRG1–G9a/GLP–DNMT3 repressive chromatin complex assembles on the Myh6 promoter to silence it during pathological stress, and disease-associated promoter and enhancer variants reduce MYH6 transcription and alter its stress response (PMID:26952936, PMID:36209093, PMID:38135727, PMID:38340456). These mechanisms link MYH6 dysfunction to a spectrum of congenital heart disease, hypertrophic cardiomyopathy, and arrhythmia, and partial allele-specific silencing of a dominant HCM allele prevents hypertrophy and fibrosis in vivo (PMID:24092743, PMID:39191188).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 1993 High

    Established the complete genomic architecture of human MYH6, defining its 39-exon structure and its close structural relationship to the β-MyHC gene, providing the foundation for variant interpretation.

    Evidence Complete gene and 5'-flanking sequencing with exon/intron boundary mapping

    PMID:8307559

    Open questions at the time
    • Structural genomics alone; does not address protein function or regulation
    • No expression or tissue-specificity data
  2. 2009 High

    Defined the core motor function of α-MHC by showing that loss of the coiled-coil/thick-filament assembly domain produces a non-contractile heart, while distinguishing contraction from early morphogenesis which proceeds independently.

    Evidence Positional cloning of the X. tropicalis myh6 muzak nonsense mutation with imaging/histology of homozygous embryos

    PMID:19769958

    Open questions at the time
    • Ortholog model; mammalian biochemistry of filament assembly not addressed
    • Mechanism of valve/trabecula failure secondary to contractile loss unresolved
  3. 2010 Medium

    Connected specific congenital heart defect variants to altered sarcomere assembly, showing variants can either disrupt or enhance myofibril formation rather than acting uniformly.

    Evidence GFP-MYH6 wild-type/mutant transfection in mouse myoblasts with fluorescence assessment of myofibril formation

    PMID:20656787

    Open questions at the time
    • Heterologous myoblast system, not cardiomyocytes
    • No measurement of motor activity or force
    • Single lab
  4. 2013 High

    Demonstrated that the dominant pathogenic mechanism of an HCM allele can be neutralized therapeutically, establishing that partial allele-specific silencing suffices to prevent disease.

    Evidence AAV-delivered allele-specific RNAi against R403Q in MHC403/+ mice with histological/echocardiographic follow-up

    PMID:24092743

    Open questions at the time
    • Single allele tested; generalizability to other variants unknown
    • Long-term durability beyond 6 months not assessed
  5. 2016 High

    Revealed an epigenetic silencing mechanism whereby pathological stress represses Myh6 through an assembled chromatin-modifying complex, linking gene regulation to contractile dysfunction.

    Evidence ChIP, reciprocal co-IP of BRG1–G9a/GLP–DNMT3, genetic disruption of each component in mice with methylation and cardiac function readouts

    PMID:26952936

    Open questions at the time
    • Upstream signal triggering complex assembly not defined
    • Relative contribution of MYH6 silencing vs other targets to dysfunction unclear
  6. 2019 Medium

    Showed that adult loss of α-MHC drives atrial hypoplasia and compensatory ventricular growth via hyperplasia, alongside ER-stress activation, characterizing the in vivo consequences of chronic deficiency.

    Evidence Zebrafish weak atrium loss-of-function line with histology, proliferation markers, hypertrophy-marker RT-PCR, and ER-stress western blot

    PMID:31129720

    Open questions at the time
    • Ortholog model; mammalian relevance of hyperplasia response uncertain
    • Mechanism linking α-MHC loss to ER stress unresolved
  7. 2020 High

    Provided rigorous causal evidence that a head-domain variant produces sarcomere and contractile defects and a switch to β-MHC, using bidirectional isogenic editing to both recapitulate and rescue the phenotype.

    Evidence hiPSC-CM differentiation with CRISPR knock-in and correction of R443P, sarcomere imaging, contractility and protein-expression analysis

    PMID:32656206

    Open questions at the time
    • Mechanism driving MYH7 isoform switch not defined
    • Single variant; in vivo confirmation absent
  8. 2024 Medium

    Linked head-domain dysfunction to a fibrotic disease mechanism, showing mutant cardiomyocytes activate fibroblasts via TGF-β1 in a reversible manner.

    Evidence Base-edited R725C hiPSC-CMs in 3D engineered heart tissue with fibroblasts, RNA-seq, force measurement, and TGF-β1 receptor blockade rescue (preprint)

    Open questions at the time
    • Preprint; awaits peer review
    • Single lab; in vivo fibrosis link not established here
  9. 2024 Medium

    Distinguished chamber-specific consequences of α-MHC dysfunction in humans, showing selective impairment of atrial contractility consistent with predominant atrial MYH6 expression.

    Evidence 2D speckle-tracking echocardiography in genotyped HLHS variant carriers with blinded case-control design

    PMID:39596649

    Open questions at the time
    • Single center; correlation not mechanistic
    • Does not establish causal molecular pathway in vivo
  10. 2024 Medium

    Demonstrated genetic synergy between MYH6 and another sarcomere gene, showing double mutations aggravate hypertrophy beyond single mutants.

    Evidence Single and double heterozygous Myh6-R453C/Tnnt2-R92W knock-in mice with echocardiography and histology

    PMID:39191188

    Open questions at the time
    • Molecular basis of synergy not defined
    • Single lab
  11. 2024 Low

    Extended a tumor-suppressive role for MYH6 outside the heart, identifying KIT as a downstream effector in prostate cancer cells.

    Evidence MYH6 overexpression in prostate cancer lines with proliferation/migration assays, RNA-seq, KIT rescue, and xenograft

    PMID:39181964

    Open questions at the time
    • Non-cardiac context; relevance to sarcomeric function unclear
    • No direct MYH6–KIT biochemical interaction shown
    • Single lab
  12. 2024 Medium

    Localized congenital-defect pathology to transcriptional dysregulation, showing disease-associated promoter variants reduce MYH6 transcription and alter transcription-factor binding across multiple defect types.

    Evidence Dual luciferase reporter and EMSA assays for VSD, TOF, and PDA promoter variants in multiple cell lines

    PMID:36209093 PMID:38135727 PMID:38340456

    Open questions at the time
    • Specific transcription factors not definitively identified
    • In vivo expression effects not measured
    • Single lab
  13. 2025 Medium

    Identified distal enhancer control of MYH6 that shapes the cardiomyocyte stress response, linking 3D genome architecture to calcium dynamics and polyploidization.

    Evidence Chromatin conformation assays plus epigenome editing in hiPSC-CMs with endothelin-1 stress, calcium imaging, and polyploidy readouts (preprint)

    Open questions at the time
    • Preprint; awaits peer review
    • Endogenous role of enhancer in vivo not established
  14. 2026 Medium

    Provided clean loss-of-function evidence that MYH6 maintains atrial/ventricular function and sarcomere integrity, with broad transcriptomic dependencies in muscle, calcium, and sarcomere pathways.

    Evidence CRISPR/Cas9 zebrafish knockout with structural/functional assessment, sarcomere imaging, and transcriptomics

    PMID:42236494

    Open questions at the time
    • Ortholog model; mammalian transcriptomic conservation untested
    • Direct vs secondary transcriptomic effects not separated

Open questions

Synthesis pass · forward-looking unresolved questions
  • The biochemical mechanism by which specific motor-domain variants alter myosin-actin interaction, force, and the trigger that converts these defects into the MYH7 isoform switch and fibrotic program remain to be defined at the molecular level.
  • No in vitro motility/ATPase assay of mutant α-MHC in the corpus
  • Signal coupling MYH6 dysfunction to MYH7 upregulation undefined
  • Upstream activator of the stress-induced repressive chromatin complex unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3 GO:0003774 cytoskeletal motor activity 2 GO:0008092 cytoskeletal protein binding 2
Localization
GO:0005856 cytoskeleton 3
Pathway
R-HSA-1643685 Disease 3 R-HSA-397014 Muscle contraction 3 R-HSA-1266738 Developmental Biology 2
Partners
MYH7TNNT2
Complex memberships
sarcomere thick filament

Evidence

Reading pass · 19 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2016 Under pathological stress in mice, BRG1 (nucleosome-remodeling factor) recruits G9a/GLP (histone methyltransferase) and then DNMT3 (DNA methyltransferase) to assemble repressive chromatin on the Myh6 promoter, marked by H3K9 and CpG methylation, thereby silencing Myh6 and impairing cardiac contraction. Disruption of any component (Brg1, G9a, or Dnmt3) de-represses Myh6 and reduces stress-induced cardiac dysfunction. Chromatin immunoprecipitation, co-immunoprecipitation of BRG1-G9a/GLP-DNMT3 complex, genetic disruption of each component in mice, histone/DNA methylation assays, cardiac function readouts Biochimica et biophysica acta High 26952936
2013 The HCM-causing Myh6 R403Q mutant allele can be selectively silenced by allele-specific RNAi delivered via AAV; a 25% reduction in mutant transcript levels was sufficient to prevent hypertrophy and myocardial fibrosis in MHC403/+ mice for at least 6 months, establishing that partial allele-specific silencing of mutant Myh6 suppresses the dominant pathological mechanism. AAV-delivered RNAi in transgenic MHC403/+ mice; histological and echocardiographic assessment of hypertrophy and fibrosis Science (New York, N.Y.) High 24092743
2009 A nonsense mutation in the X. tropicalis cardiac myosin heavy chain gene myh6 (muzak mutation) causes a premature stop codon that deletes the coiled-coil domain responsible for polymerization into thick filaments, leading to non-contractile hearts with severely disrupted cardiomyocyte cytoskeleton. Despite loss of contractile activity and thick filament assembly, early cardiac morphogenesis (looping, chamber formation) proceeds normally; later, dilated chambers form with compressed endocardium and failure to form valves and trabeculae. Positional cloning, sequencing, phenotypic characterization of homozygous mutant embryos by imaging and histology Developmental biology High 19769958
2010 Specific MYH6 missense mutations (A230P and A1366D) significantly disrupt myofibril formation in mouse myoblasts transfected with GFP-MYH6 fusion proteins, whereas the H252Q mutation significantly enhances myofibril assembly, establishing that MYH6 variants associated with congenital heart defects functionally alter sarcomere/myofibril assembly. Transfection of GFP-MYH6 fusion constructs (wild-type and mutant) in mouse myoblasts; fluorescence microscopy assessment of myofibril formation Human molecular genetics Medium 20656787
1993 The human MYH6 gene consists of 39 exons (37 coding), with the 5'-UTR split into 3 exons and the AUG initiation codon in the third exon. All exon/intron boundaries are conserved with beta-MyHC (MYH7) except one intron. The gene spans 26,159 bp and the intergenic 5'-flanking region is 4484 bp. Complete nucleotide sequencing of the gene and 5'-flanking region; exon/intron boundary mapping Genomics High 8307559
2019 Adult zebrafish homozygous for myh6 loss-of-function mutations (weak atrium line) develop atrial hypoplasia with elastin deposition and ventricular enlargement occurring predominantly through hyperplasia (increased cardiomyocyte proliferation) rather than hypertrophy, despite activation of transcriptional profiles similar to mammalian hypertrophic response; ER-stress pathway activation was also detected. Immunohistochemistry and confocal microscopy for cardiomyocyte size, density, and proliferation markers; RT-PCR for hypertrophy markers; western blot for ER-stress pathway Cell and tissue research Medium 31129720
2020 iPSC-derived cardiomyocytes carrying the MYH6-R443P head domain variant (from HLHS patients) exhibit dysmorphic sarcomere structure, exclusive beta-myosin heavy chain (MYH7) expression (no alpha-MHC) after differentiation day 15, slower contraction rate, reduced shortening, and slower shortening and relaxation velocities. CRISPR/Cas9 introduction of R443P into unaffected parent iPSCs recapitulated the phenotype; correction of R443P in proband iPSCs rescued sarcomere organization and contractile defects. iPSC-derived cardiomyocyte differentiation; CRISPR/Cas9 isogenic editing (introduction and correction of R443P); sarcomere imaging; contractility measurement; protein expression analysis Frontiers in cell and developmental biology High 32656206
2021 Variants in the promoter region of MYH6 (g.4085G>C and g.4716G>A) found only in ventricular septal defect patients significantly reduced transcriptional activity of the MYH6 promoter and altered transcription factor binding sites as detected by EMSA, providing a loss-of-expression mechanism for VSD. Dual luciferase reporter assay; electrophoretic mobility shift assay (EMSA); bioinformatics (JASPAR) for transcription factor binding prediction BMC medical genomics Medium 36209093
2023 Variants in the MYH6 gene promoter found in tetralogy of Fallot patients (including two novel variants g.3384G>T and g.4518T>C) reduce transcriptional activity and alter transcription factor binding, as demonstrated by dual luciferase reporter assays and EMSA in three different cell lines (HEK-293, HL-1, H9C2). Dual luciferase reporter assay; EMSA in three cell lines; bioinformatics JASPAR analysis Pediatric research Medium 38135727
2024 Variants in the MYH6 gene promoter found only in patent ductus arteriosus patients reduce transcriptional activity and alter transcription factor binding, as demonstrated by dual luciferase reporter and EMSA in three cell lines (HEK-293, HL-1, H9C2). Dual luciferase reporter assay; EMSA in three cell lines; sequencing Human molecular genetics Medium 38340456
2022 An insertion mutation (Arg1822_Glu1823dup) in the MYH6 coiled-coil domain impairs myofibril formation and increases apoptosis in transfected myoblast C2C12 cells; molecular simulation reveals the variant disrupts the myosin α-helix and increases coiled-coil dimer stability, suggesting aberrant self-aggregation. Transfection of mutant MYH6 in C2C12 myoblasts; myofibril formation assay; apoptosis assay; molecular dynamics simulation European journal of medical genetics Medium 34481090
2011 Three novel MYH6 missense mutations (R17H, C539R, K543R) causing familial atrial septal defects are located in the highly conserved motor domain region involved in myosin-actin interaction, co-segregate with disease, and are absent in controls, placing the pathological mechanism at the level of myosin-actin interaction in the motor domain. Array-based resequencing of sarcomeric genes; family co-segregation analysis; structural/homology analysis of motor domain PloS one Low 22194935
2024 MYH6 overexpression in prostate cancer cells suppresses proliferation and migration, and RNA-seq identified KIT proto-oncogene as a downstream target of MYH6; rescue assays confirmed KIT mediates the tumor suppressive effects of MYH6. Overexpression in prostate cancer cell lines; in vitro proliferation and migration assays; RNA-seq; rescue assays with KIT; in vivo xenograft Scientific reports Low 39181964
2026 CRISPR/Cas9-generated myh6 knockout zebrafish show impaired atrial and ventricular function, disordered sarcomere organization, and transcriptomic changes enriched in muscle development, calcium ion homeostasis, and sarcomere pathways (1318 differentially expressed genes), establishing that myh6 is required for maintaining atrial function and sarcomere integrity in vivo. CRISPR/Cas9 zebrafish knockout; echocardiographic/structural assessment; transcriptomic sequencing; sarcomere imaging NPJ genomic medicine Medium 42236494
2025 A gene regulatory enhancer element directly interacts with the MYH6 locus (confirmed by chromatin conformation assays) and controls MYH6 expression in hiPSC-derived cardiomyocytes; epigenome editing to activate this enhancer alters cardiomyocyte response to endothelin-1 stress, preventing polyploidization and changing calcium dynamics. Chromatin conformation assays (Hi-C/3C type); epigenome editing to activate enhancer; endothelin-1 stress assay; calcium imaging; polyploidy assessment bioRxivpreprint Medium
2024 hiPSC-CMs carrying MYH6 R725C (equivalent to MYH7 R723C) mutation show sarcomere disorganization, reduced cortical F-actin, increased central F-actin, cellular hypertrophy, and TGF-β1 overexpression; mutant cardiomyocytes activate fibroblasts via TGF-β1, and blocking TGF-β1 receptor signaling reduces fibroblast activation and contractile force to control levels. Base editing to introduce R725C in hiPSCs; 3D engineered heart tissue with cardiomyocytes and fibroblasts; immunostaining; RNA-seq; calcium imaging; force measurement; TGF-β1 receptor blockade rescue bioRxivpreprint Medium
2025 hiPSC-CMs with MYH6 R725C mutation (alongside MYH7 R723C) display upregulation of cytoskeletal and sarcomere transcripts, cellular hypertrophy, increased aspect ratio, sarcomere disorganization with lower sarcomeric order, reduced cortical F-actin and increased central F-actin compared to isogenic controls, with pathological changes accumulating progressively over time. Base editing to generate isogenic mutant hiPSC-CMs; bulk RNA-seq with KEGG and GO analysis; immunostaining; morphological analysis Journal of cardiovascular development and disease Medium 41440879
2024 MYH6 variant carriers (HLHS patients) show decreased right atrial active strain (impaired atrial contractility) measured by 2D speckle-tracking echocardiography compared to controls, with no significant difference in right ventricular function, establishing that α-MHC dysfunction specifically impairs atrial (not ventricular) contractile function consistent with predominant atrial MYH6 expression. 2D speckle-tracking echocardiography (2D-STE) with blinded assessment; case-control matching Genes Medium 39596649
2024 Mice carrying both heterozygous Myh6-R453C and Tnnt2-R92W mutations develop significantly greater HCM phenotypes (hypertrophy) at 4 weeks compared to single heterozygous mutants, establishing a synergistic aggravation of HCM by double sarcomere mutations involving MYH6. Generation of single and double heterozygous knock-in mice; echocardiography; histology for hypertrophy assessment Biochemical and biophysical research communications Medium 39191188

Source papers

Stage 0 corpus · 47 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2011 A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nature genetics 247 21378987
2010 Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circulation. Cardiovascular genetics 199 20215591
2013 Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy. Science (New York, N.Y.) 184 24092743
2010 Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects. Human molecular genetics 122 20656787
2016 Impact of MYH6 variants in hypoplastic left heart syndrome. Physiological genomics 75 27789736
2011 Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects. PloS one 74 22194935
2015 Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction. Circulation. Cardiovascular genetics 70 26085007
2018 A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta. European heart journal 60 29590334
2016 Epigenetic response to environmental stress: Assembly of BRG1-G9a/GLP-DNMT3 repressive chromatin complex on Myh6 promoter in pathologically stressed hearts. Biochimica et biophysica acta 57 26952936
2009 Absence of heartbeat in the Xenopus tropicalis mutation muzak is caused by a nonsense mutation in cardiac myosin myh6. Developmental biology 42 19769958
2020 Contractility of Induced Pluripotent Stem Cell-Cardiomyocytes With an MYH6 Head Domain Variant Associated With Hypoplastic Left Heart Syndrome. Frontiers in cell and developmental biology 41 32656206
1993 Structural organization of the human cardiac alpha-myosin heavy chain gene (MYH6). Genomics 30 8307559
2021 Identification of MYH6 as the potential gene for human ischaemic cardiomyopathy. Journal of cellular and molecular medicine 28 34697898
2018 Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease. BMC cardiovascular disorders 26 29969989
2020 Myh6-driven Cre recombinase activates the DNA damage response and the cell cycle in the myocardium in the absence of loxP sites. Disease models & mechanisms 19 33106234
2022 Identification and functional analysis of variants of MYH6 gene promoter in isolated ventricular septal defects. BMC medical genomics 17 36209093
2019 Ventricular remodeling of single-chambered myh6-/- adult zebrafish hearts occurs via a hyperplastic response and is accompanied by elastin deposition in the atrium. Cell and tissue research 17 31129720
2021 Young and early-onset dilated cardiomyopathy with malignant ventricular arrhythmia and sudden cardiac death induced by the heterozygous LDB3, MYH6, and SYNE1 missense mutations. Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc 13 33949037
2021 Generation and characterization of a Myh6-driven Cre knockin mouse line. Transgenic research 13 34542814
2019 Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete. Journal of electrocardiology 12 30716529
2015 Generation of murine cardiac pacemaker cell aggregates based on ES-cell-programming in combination with Myh6-promoter-selection. Journal of visualized experiments : JoVE 12 25742394
2021 Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defect. European journal of medical genetics 11 34481090
2023 Tetralogy of Fallot: variants of MYH6 gene promoter and cellular functional analyses. Pediatric research 9 38135727
2022 A dual SHOX2:GFP; MYH6:mCherry knockin hESC reporter line for derivation of human SAN-like cells. iScience 7 35434558
2022 Myh6 promoter-driven Cre recombinase excises floxed DNA fragments in a subset of male germline cells. Journal of molecular and cellular cardiology 7 36584478
2024 Variants of the promoter of MYH6 gene in congenital isolated and sporadic patent ductus arteriosus: case-control study and cellular functional analyses. Human molecular genetics 6 38340456
2021 A double heterozygous variant in MYH6 and MYH7 associated with hypertrophic cardiomyopathy in a Japanese Family. Journal of cardiology cases 6 35911064
2024 MYH6 Variants Are Associated with Atrial Dysfunction in Neonates with Hypoplastic Left Heart Syndrome. Genes 5 39596649
2022 Genetic alteration of human MYH6 is mimicked by SARS-CoV-2 polyprotein: mapping viral variants of cardiac interest. Cell death discovery 4 35314694
2020 Establishment of a human MYH6 compound heterozygous knockout hESC line to model cardiomyopathy and congenital heart defects by CRISPR/Cas9 system. Stem cell research 4 33360099
2022 Fluorescent hiPSC-derived MYH6-mScarlet cardiomyocytes for real-time tracking, imaging, and cardiotoxicity assays. Cell biology and toxicology 3 35870039
1995 A trinucleotide repeat combination polymorphism in the cardiac alpha myosin heavy chain (MYH6) gene. Human genetics 3 7789965
2024 Generation of a human induced pluripotent stem cell line from a hypertrophic cardiomyopathy patient carrying MYH6/c.611G>A mutation. Stem cell research 2 39154416
2023 Prenatal diagnosis of recurrent hypoplastic left heart syndrome associated with MYH6 variants: a case report. BMC cardiovascular disorders 2 36890431
2021 Association of the MYH6 Gene Polymorphism with the Risk of Atrial Fibrillation and Warfarin Anticoagulation Therapy. Genetic testing and molecular biomarkers 2 34515533
2020 Generation of an IPSC line from a patient with hypertrophic cardiomyopathy carrying a mutation in MYH6 gene. Stem cell research 2 33385793
2025 Unusual hypertrophic cardiomyopathy: case report of an early onset wild-type ATTR amyloidosis accompanied by a chromosomal duplication involving the MYH6 and MYH7 gene. Frontiers in cardiovascular medicine 1 39963604
2024 MYH6 suppresses tumor progression by downregulating KIT expression in human prostate cancer. Scientific reports 1 39181964
2024 Carrying both the heterozygous Myh6-R453C and Tnnt2-R92W mutations aggravate the hypertrophic cardiomyopathy phenotype in mice. Biochemical and biophysical research communications 1 39191188
2024 Comparative analysis of two independent Myh6-Cre transgenic mouse lines. Journal of molecular and cellular cardiology plus 1 39323506
2026 LMNA-p.Arg78Trp and MYH6-p.Val893Met Mutations Associated with Left Ventricular Noncompaction. Combinatorial chemistry & high throughput screening 0 41830141
2026 The Role of MYH6 Variants in atrial cardiomyopathy: insights from clinical observations and zebrafish models. NPJ genomic medicine 0 42236494
2025 Regulation of the microRNA profiles related to Myh7 and Myh6 in myocardial ischemia through proanthocyanidins and different intensity exercise training. Avicenna journal of phytomedicine 0 40271502
2025 MYH6-Cre Insertion Accelerates Cardiac Phenotype in Dystrophic D2-mdx Mice. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 0 40879110
2025 Sex-Specific Expression Patterns of MYH6 and MYH7 Gene Transcripts in Large Cohorts of Non-Failing and Failing Human Left Ventricular Tissues. Journal of cardiovascular development and disease 0 41295372
2025 Early Cytoskeletal Remodeling Drives Hypertrophic Cardiomyopathy Pathogenesis in MYH6/7 Mutant hiPSC-Derived Cardiomyocytes. Journal of cardiovascular development and disease 0 41440879
2024 Generation of a MYH6 (c.4034T > C) mutant human embryonic stem cell line via CRISPR base editing. Stem cell research 0 39541768

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