Affinage

MYH6

Myosin-6 · UniProt P13533

Length
1939 aa
Mass
223.7 kDa
Annotated
2026-04-29
46 papers in source corpus 14 papers cited in narrative 16 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

MYH6 encodes the α-myosin heavy chain, the principal sarcomeric motor protein of the atrium, whose head domain drives actin-dependent force generation and whose coiled-coil tail domain mediates thick filament polymerization essential for myofibril assembly and cardiac contractility (PMID:19769958, PMID:20656787, PMID:32656206). Mutations in the motor head impair sarcomere organization and contractile function with a shift from MYH6 toward MYH7 (β-MHC) expression, while tail-domain truncations or insertions abolish thick filament formation; allele-specific silencing of the dominant R403Q mutant allele is sufficient to prevent hypertrophic cardiomyopathy in vivo (PMID:24092743, PMID:34481090). Under pathological stress, a BRG1–G9a/GLP–DNMT3 chromatin-repressive complex assembles on the MYH6 promoter, depositing H3K9 and CpG methylation to silence MYH6 transcription and worsen cardiac dysfunction (PMID:26952936). MYH6 mutations cause familial atrial septal defects and are associated with hypoplastic left heart syndrome, with atrium-selective contractile impairment reflecting the chamber-restricted predominance of α-MHC expression (PMID:22194935, PMID:27789736, PMID:39596649).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 1993 High

    Complete genomic characterization of MYH6 established its 39-exon architecture and near-identity with the MYH7 locus, providing the structural framework needed to interpret subsequent disease-associated variants.

    Evidence Full genomic sequencing (26,159 bp) and comparative analysis with MYH7

    PMID:8307559

    Open questions at the time
    • No functional data on promoter or regulatory elements at this stage
    • No disease mutation mapping yet performed
  2. 2009 High

    Positional cloning of the Xenopus muzak mutant demonstrated that the MYH6 coiled-coil tail domain is essential for thick filament assembly and cardiac contractility, while dispensable for early cardiac morphogenesis.

    Evidence Positional cloning and cytoskeletal/histological analysis in X. tropicalis muzak loss-of-function mutant

    PMID:19769958

    Open questions at the time
    • Xenopus ortholog; direct extrapolation to mammalian MYH6 function required confirmation
    • No motor-domain-specific functional dissection
  3. 2010 Medium

    Expression of disease-associated MYH6 point mutants in myoblasts revealed that specific residues in both the head and tail domains are required for proper myofibril formation, separating gain-of-assembly from loss-of-assembly variants.

    Evidence GFP-MYH6 wild-type and mutant fusion construct transfection in mouse myoblasts with fluorescence microscopy

    PMID:20656787

    Open questions at the time
    • Overexpression in non-cardiomyocyte cell line; physiological relevance in cardiomyocytes not confirmed
    • No contractile or mechanical readouts
  4. 2011 Medium

    Identification of MYH6 motor-domain missense mutations co-segregating with familial atrial septal defects placed the myosin-actin interaction interface as a critical determinant of congenital heart structure.

    Evidence Array-based sarcomeric gene resequencing, family co-segregation analysis, structural homology mapping

    PMID:22194935

    Open questions at the time
    • No direct actin-binding or ATPase functional assays performed for the identified variants
    • Structural inference based on homology, not crystal structure of α-MHC
  5. 2013 High

    Allele-specific RNAi silencing of the R403Q mutant Myh6 allele in vivo proved that even partial (~25%) suppression of the gain-of-function transcript prevents hypertrophic cardiomyopathy, establishing a therapeutic paradigm for dominant sarcomeric mutations.

    Evidence AAV-delivered allele-specific RNAi in Myh6(R403Q/+) knock-in mice with echocardiography, histology, and qRT-PCR

    PMID:24092743

    Open questions at the time
    • Long-term durability beyond 6 months not assessed
    • Translation to human MYH6 sequence context not tested
  6. 2016 High

    Discovery that a BRG1–G9a/GLP–DNMT3 repressive complex assembles on the MYH6 promoter under cardiac stress explained how pathological signaling epigenetically silences α-MHC to drive the fetal gene re-expression program and contractile dysfunction.

    Evidence Co-IP, ChIP (H3K9me, CpG methylation), genetic disruption of Brg1/G9a/Dnmt3 in mice, validation in human hypertrophic heart tissue

    PMID:26952936

    Open questions at the time
    • Upstream signal that activates BRG1 recruitment to MYH6 specifically remains undefined
    • Relative contribution of H3K9me vs CpG methylation not dissected
  7. 2016 Medium

    Patient iPSC-cardiomyocytes with MYH6 variants recapitulated the MYH6-to-MYH7 isoform shift observed in HLHS cardiac tissue, providing a human cellular model linking MYH6 haploinsufficiency to defective cardiomyogenesis and β-MHC compensation.

    Evidence iPSC-CM differentiation from HLHS patients, transcriptome and protein expression analysis

    PMID:27789736

    Open questions at the time
    • Specific MYH6 variants not functionally isolated from genetic background
    • Mechanism by which MYH6 loss upregulates MYH7 not determined
  8. 2019 Medium

    Zebrafish myh6 knockout revealed that loss of atrial myosin triggers ventricular compensatory hyperplasia rather than hypertrophy, accompanied by ER-stress activation, distinguishing the piscine response from canonical mammalian hypertrophy.

    Evidence Immunohistochemistry, confocal microscopy, qRT-PCR, western blot in myh6−/− zebrafish

    PMID:31129720

    Open questions at the time
    • Hyperplasia vs. hypertrophy distinction may reflect zebrafish-specific regenerative capacity
    • ER-stress pathway as cause vs. consequence not resolved
  9. 2020 High

    CRISPR/Cas9 correction and reintroduction of the R443P head-domain variant in isogenic iPSC-CMs established bidirectional causality between this motor-domain mutation and impaired sarcomere assembly, MYH6/MYH7 switching, and contractile dysfunction.

    Evidence CRISPR isogenic correction/reintroduction, iPSC-CM contraction assays, immunostaining, patient tissue validation

    PMID:32656206

    Open questions at the time
    • Biochemical mechanism (ATPase, actin affinity) of R443P not directly measured
    • Long-term maturation effects not studied
  10. 2021 Medium

    A coiled-coil tail domain insertion variant was shown to impair myofibril formation and increase apoptosis, with molecular dynamics suggesting altered α-helix and dimer stability as the structural basis—extending the spectrum of disease mechanisms to tail-domain self-aggregation defects.

    Evidence C2C12 transfection, myofibril/apoptosis assays, molecular dynamics simulation

    PMID:34481090

    Open questions at the time
    • Molecular dynamics prediction not validated by biophysical measurement of dimer stability
    • Apoptosis mechanism not explored
  11. 2022 Medium

    Functional characterization of MYH6 promoter variants from VSD patients demonstrated that cis-regulatory mutations reduce MYH6 transcription and alter transcription factor binding, establishing a non-coding pathogenic mechanism.

    Evidence Dual luciferase reporter assay and EMSA in cell lines

    PMID:36209093

    Open questions at the time
    • Specific transcription factors affected not definitively identified
    • In vivo promoter activity not tested
  12. 2023 Medium

    Replication of the promoter-variant mechanism in Tetralogy of Fallot patients across three cell lines strengthened the generality of reduced MYH6 promoter activity as a pathogenic mechanism across congenital heart defects.

    Evidence Dual luciferase reporter and EMSA in HEK-293, HL-1, H9C2 cell lines

    PMID:38135727

    Open questions at the time
    • Endogenous chromatin context not assessed
    • Causality in animal models not established for TOF-associated variants
  13. 2024 Medium

    In vivo echocardiographic measurement in HLHS neonates directly linked MYH6 variant status to atrium-selective contractile impairment, confirming in patients the chamber-specific functional consequence predicted by MYH6 expression patterns.

    Evidence 2D speckle-tracking echocardiography with genotype-stratified case-control analysis in neonates

    PMID:39596649

    Open questions at the time
    • Small cohort; replication in larger populations needed
    • Mechanistic basis for preserved RV function not addressed

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include the biochemical mechanism by which individual MYH6 mutations alter ATPase kinetics and actin binding, the upstream signals that recruit the BRG1 repressive complex specifically to MYH6, and whether MYH6-driven TGF-β1 secretion from mutant cardiomyocytes is a general feature of HCM pathogenesis.
  • No single-molecule or purified-protein biophysical studies of disease-associated α-MHC variants
  • Signal initiating BRG1 recruitment to MYH6 promoter unknown
  • MYH6-specific contribution to TGF-β1-mediated fibroblast activation not separated from MYH7

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0003774 cytoskeletal motor activity 2 GO:0008092 cytoskeletal protein binding 2 GO:0140657 ATP-dependent activity 2
Localization
GO:0005856 cytoskeleton 4
Pathway
R-HSA-1643685 Disease 4 R-HSA-1266738 Developmental Biology 3 R-HSA-397014 Muscle contraction 2 R-HSA-4839726 Chromatin organization 1
Partners
BRG1DNMT3G9AGLPMYH7
Complex memberships
cardiac thick filament (myosin)sarcomere

Evidence

Reading pass · 16 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2009 Loss-of-function nonsense mutation in myh6 (cardiac myosin heavy chain) in Xenopus tropicalis muzak mutants deletes the coiled-coil domain required for thick filament polymerization, severely disrupting the cardiomyocyte cytoskeleton and abolishing cardiac contractility, while early cardiac morphogenesis (looping, chamber formation) proceeds normally but valves and trabeculae fail to form. Positional cloning, loss-of-function genetic model (Xenopus tropicalis muzak mutant), histology and cytoskeletal analysis Developmental biology High 19769958
2010 MYH6 mutations A230P and A1366D significantly disrupt myofibril formation when GFP-MYH6 fusion proteins are expressed in mouse myoblasts, while mutation H252Q significantly enhances myofibril assembly compared to wild-type, demonstrating that specific residues in MYH6 are required for proper sarcomere/myofibril organization. Transfection of GFP-MYH6 fusion constructs (wild-type and mutant) in mouse myoblasts, fluorescence microscopy of myofibril formation Human molecular genetics Medium 20656787
2013 Allele-specific RNAi delivered by AAV selectively silences the R403Q mutant Myh6 transcript in heterozygous HCM mice; a ~25% reduction in mutant transcript levels is sufficient to prevent hypertrophy and myocardial fibrosis for at least 6 months, establishing that partial suppression of the mutant allele blocks HCM pathogenesis. AAV-delivered RNAi in Myh6(R403Q/+) knock-in mice, echocardiography, histology, quantitative RT-PCR Science High 24092743
2016 Under pathological cardiac stress, BRG1 (nucleosome-remodeling factor) is activated in cardiomyocytes and sequentially recruits G9a/GLP (histone methyltransferase) and DNMT3 (DNA methyltransferase) to assemble repressive chromatin on the Myh6 promoter, marked by H3K9 methylation and CpG methylation, thereby silencing Myh6 and impairing cardiac contraction; disruption of any component of this complex de-represses Myh6 and reduces stress-induced dysfunction. Co-immunoprecipitation of BRG1-G9a-DNMT3 complex, ChIP for H3K9me and CpG methylation on Myh6 promoter, genetic disruption of Brg1/G9a/Dnmt3 in mice, cardiac function assays; validated in human hypertrophic heart tissue Biochimica et biophysica acta High 26952936
2019 In adult zebrafish myh6-/- (weak atrium) mutants, loss of atrial myosin heavy chain leads to atrial hypoplasia with elastin deposition; the compensatory ventricular enlargement occurs predominantly via cardiomyocyte hyperplasia (not hypertrophy), accompanied by activation of mammalian hypertrophy-associated transcriptional profiles and ER-stress pathway activation. Immunohistochemistry, confocal microscopy (cardiomyocyte size/density/proliferation), RT-PCR for hypertrophy markers, western blot for ER stress markers in myh6-/- zebrafish Cell and tissue research Medium 31129720
2016 Patient-derived iPSC-cardiomyocytes from HLHS subjects with MYH6 variants exhibit defective cardiomyogenic differentiation and upregulation of MYH7 (β-myosin heavy chain), mirroring in vivo cardiac tissue expression changes; this establishes that MYH6 variants alter the MYH6/MYH7 balance during cardiomyogenesis. iPSC cardiomyocyte differentiation from HLHS patients, transcriptome and protein expression analysis of cardiac tissue, MYH7 upregulation quantification Physiological genomics Medium 27789736
2020 iPSC-cardiomyocytes carrying the MYH6-R443P head domain variant show dysmorphic sarcomere structure, increased MYH7 expression replacing MYH6 after differentiation day 15, slower contraction rates, reduced shortening, and slower relaxation; CRISPR/Cas9 correction of R443P rescues sarcomere organization and contractile phenotypes, demonstrating that this variant in the MYH6 motor head directly impairs sarcomere assembly and contractility. iPSC-cardiomyocyte functional assays (contraction rate, shortening, velocity), immunostaining, CRISPR/Cas9 correction and reintroduction of R443P variant, patient cardiac tissue immunostaining Frontiers in cell and developmental biology High 32656206
1993 The human MYH6 gene consists of 39 exons (37 coding), with the 5'-UTR split across 3 exons and the AUG initiation codon in the third exon; all exon/intron boundaries are conserved with cardiac β-MHC (MYH7) except the 13th intron of MYH7 which is absent in MYH6; the encoded protein sequence was fully determined. Complete genomic sequencing of human MYH6 locus (26,159 bp) and comparative analysis Genomics High 8307559
2011 Three MYH6 missense mutations (R17H, C539R, K543R) associated with familial atrial septal defect are all located in the highly conserved alpha-myosin motor domain region involved in myosin-actin interaction, suggesting that perturbation of this actin-binding interface is a mechanism for MYH6-associated congenital heart defects. Array-based resequencing of 13 sarcomeric genes, co-segregation analysis in families, structural and homology analysis of mutation locations PloS one Medium 22194935
2021 Novel MYH6 insertion variant Arg1822_Glu1823dup in the coiled-coil tail domain significantly impairs myofibril formation and increases apoptosis in transfected C2C12 myoblasts; molecular simulation reveals the variant impairs the myosin α-helix and increases coiled-coil dimer stability, suggesting altered tail domain self-aggregation as a disease mechanism. Transfection of MYH6 variants in C2C12 cells, myofibril formation assay, apoptosis assay, molecular dynamics simulation European journal of medical genetics Medium 34481090
2022 Variants in the MYH6 gene promoter (g.4085G>C and g.4716G>A, identified in VSD patients) significantly reduce MYH6 transcriptional activity as shown by dual luciferase reporter assays, and alter transcription factor binding as shown by electrophoretic mobility shift assays, establishing a regulatory mechanism by which promoter variants reduce MYH6 expression. Dual luciferase reporter assay, electrophoretic mobility shift assay (EMSA), bioinformatics (JASPAR) BMC medical genomics Medium 36209093
2023 MYH6 gene promoter variants found in Tetralogy of Fallot patients reduce MYH6 transcriptional activity in dual luciferase reporter assays and alter transcription factor binding in EMSA across three cell lines (HEK-293, HL-1, H9C2), indicating that reduced MYH6 promoter-driven expression is a pathogenic mechanism in TOF. Dual luciferase reporter assay, EMSA in three cell lines, bioinformatics (JASPAR) Pediatric research Medium 38135727
2024 MYH6 variants in HLHS neonates are associated with impaired right atrial active contractility (reduced RA active strain) as measured by 2D speckle-tracking echocardiography, while RV function is preserved; RA reservoir and conduit strain correlate with heart rate only in variant carriers, demonstrating atrium-specific functional impairment consistent with the atrial predominance of MYH6 expression. 2D speckle-tracking echocardiography in neonates, strain and strain rate analysis, case-control comparison Genes Medium 39596649
2024 MYH6 overexpression suppresses proliferation and migration of prostate cancer cells in vitro and in vivo; RNA-seq identified KIT proto-oncogene as a downstream target downregulated by MYH6, and rescue assays confirmed that MYH6's tumor-suppressive effects are mediated through downregulation of KIT expression. Overexpression in prostate cancer cell lines, proliferation and migration assays, xenograft in vivo model, RNA-seq, rescue assays with KIT Scientific reports Medium 39181964
2025 A gene regulatory enhancer element interacts directly with the MYH6 locus (confirmed by chromatin conformation assays) and controls MYH6 expression; epigenome editing-mediated enhancer activation alters cardiomyocyte response to endothelin-1 stress, preventing polyploidization and changes in calcium dynamics, establishing that enhancer-mediated MYH6 regulation modulates cardiomyocyte stress response and maturation. Chromatin conformation assays (3C/Hi-C type), epigenome editing, endothelin-1 stress assay, calcium dynamics measurement, polyploidy analysis in hiPSC-derived cardiomyocytes bioRxivpreprint Medium
2024 hiPSC-CMs carrying HCM-associated MYH6-R725C and MYH7-R723C mutations in 3D engineered heart tissues show elevated TGF-β1 secretion specifically from mutant cardiomyocytes, increased activated fibroblasts, and augmented contraction force; blocking TGF-β1 receptor signaling normalizes fibroblast activation and force to control levels, placing mutant MYH6/7-driven TGF-β1 overexpression upstream of fibroblast activation. 3D engineered heart tissue (EHT) model, ELISA/secretion assay for TGF-β1, fibroblast activation markers, contraction force measurement, TGF-β receptor antagonist rescue bioRxivpreprint Low

Source papers

Stage 0 corpus · 46 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.) 178 24092743
2010 Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects. Human molecular genetics 120 20656787
2011 Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects. PloS one 74 22194935
2016 Impact of MYH6 variants in hypoplastic left heart syndrome. Physiological genomics 73 27789736
2015 Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction. Circulation. Cardiovascular genetics 68 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 55 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 40 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 24 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 17 33106234
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
2022 Identification and functional analysis of variants of MYH6 gene promoter in isolated ventricular septal defects. BMC medical genomics 14 36209093
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 11 25742394
2021 Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defect. European journal of medical genetics 10 34481090
2023 Tetralogy of Fallot: variants of MYH6 gene promoter and cellular functional analyses. Pediatric research 7 38135727
2022 A dual SHOX2:GFP; MYH6:mCherry knockin hESC reporter line for derivation of human SAN-like cells. iScience 6 35434558
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
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 4 38340456
2022 Genetic alteration of human MYH6 is mimicked by SARS-CoV-2 polyprotein: mapping viral variants of cardiac interest. Cell death discovery 4 35314694
2022 Myh6 promoter-driven Cre recombinase excises floxed DNA fragments in a subset of male germline cells. Journal of molecular and cellular cardiology 4 36584478
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 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
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 Carrying both the heterozygous Myh6-R453C and Tnnt2-R92W mutations aggravate the hypertrophic cardiomyopathy phenotype in mice. Biochemical and biophysical research communications 0 39191188
2024 Generation of a MYH6 (c.4034T > C) mutant human embryonic stem cell line via CRISPR base editing. Stem cell research 0 39541768