MYH7

Summary

Gene Symbol: MYH7
Description: myosin heavy chain 7
Alias: CMD1S, CMH1, MPD1, MYHCB, SPMD, SPMM, myosin-7, cardiac muscle myosin heavy chain 7 beta, myHC-beta, myhc-slow, myopathy, distal 1, myosin 7, myosin heavy chain beta-subunit, myosin heavy chain slow isoform, myosin heavy chain, cardiac muscle beta isoform, myosin, heavy chain 7, cardiac muscle, beta, myosin, heavy polypeptide 7, cardiac muscle, beta, rhabdomyosarcoma antigen MU-RMS-40.7A
Species: human
Products:     MYH7

Top Publications

  1. Villard E, Duboscq Bidot L, Charron P, Benaiche A, Conraads V, Sylvius N, et al. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Eur Heart J. 2005;26:794-803 pubmed
    ..A SSCP and sequencing mutation screening of all the exons coding for beta myosin heavy chain (MYH7 gene), cardiac T troponin (TNNT2 gene), phospholamban (PLN gene), and the cardio-specific exon of metavinculin (VCL ..
  2. Moolman Smook J, De Lange W, Bruwer E, Brink P, Corfield V. The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. Am J Hum Genet. 1999;65:1308-20 pubmed
  3. Jaenicke T, Diederich K, Haas W, Schleich J, Lichter P, Pfordt M, et al. The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product. Genomics. 1990;8:194-206 pubmed
    ..We have isolated and sequenced the gene and the cDNA coding for the human cardiac beta-myosin heavy chain (designated MYH7). The gene is 22,883 bp long. The 1935 amino acids of this protein (Mr223,111) are encoded by 38 exons...
  4. Dausse E, Komajda M, Fetler L, Dubourg O, Dufour C, Carrier L, et al. Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene. J Clin Invest. 1993;92:2807-13 pubmed
    ..Our results also indicate that codon 403 of the beta-myosin heavy chain gene is a hot spot for mutations causing FHC. ..
  5. Perrot A, Schmidt Traub H, Hoffmann B, Prager M, Bit Avragim N, Rudenko R, et al. Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. J Mol Med (Berl). 2005;83:468-77 pubmed
    ..Mutations in the cardiac beta-myosin heavy chain gene (MYH7) are responsible for the disease in about 30% of cases where mutations were identified...
  6. Rai T, Ahmad S, Bahl A, Ahuja M, Ahluwalia T, Singh B, et al. Genotype phenotype correlations of cardiac beta-myosin heavy chain mutations in Indian patients with hypertrophic and dilated cardiomyopathy. Mol Cell Biochem. 2009;321:189-96 pubmed publisher
    The aim of the current study was to determine the frequency of mutations in the beta-myosin heavy chain gene (MYH7) in a cohort of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) and their families, and to investigate ..
  7. Fananapazir L, Dalakas M, Cyran F, Cohn G, Epstein N. Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A. 1993;90:3993-7 pubmed
    ..In less than half of kindreds with HCM, the disease is linked to the beta-myosin heavy-chain gene locus (MYH7)...
  8. Anan R, Greve G, Thierfelder L, Watkins H, McKenna W, Solomon S, et al. Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin Invest. 1994;93:280-5 pubmed
    ..Phe513Cys mutation (P < 0.001) support the hypothesis that mutations which alter the charge of the encoded amino acid affect survival more significantly than those that produce a conservative amino acid change. ..
  9. Seebohm B, Matinmehr F, Kohler J, Francino A, Navarro Lopez F, Perrot A, et al. Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance. Biophys J. 2009;97:806-24 pubmed publisher
    ..Because amino acids 719 and 723 are nonconserved residues, cross-bridge stiffness may well be specifically tuned for different myosins. ..

More Information

Publications86

  1. Tasca G, Ricci E, Penttilä S, Monforte M, Giglio V, Ottaviani P, et al. New phenotype and pathology features in MYH7-related distal myopathy. Neuromuscul Disord. 2012;22:640-7 pubmed publisher
    ..is an autosomal dominant disease due to mutations in the gene encoding for the human slow-? myosin heavy chain, MYH7. Most reports describe it as a mild, early onset myopathy with involvement usually restricted to foot extensors, ..
  2. Rayment I, Holden H, Sellers J, Fananapazir L, Epstein N. Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Proc Natl Acad Sci U S A. 1995;92:3864-8 pubmed
    ..kindreds, the disease is caused by > 29 missense mutations in the cardiac beta-myosin heavy chain (MYH7) gene...
  3. Cullup T, Lamont P, Cirak S, Damian M, Wallefeld W, Gooding R, et al. Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement. Neuromuscul Disord. 2012;22:1096-104 pubmed publisher
    ..A proportion of cases remain unresolved. Mutations in MYH7 encoding the beta myosin heavy chain protein have been implicated in cardiac and, less frequently, skeletal muscle ..
  4. Sommese R, Sung J, Nag S, Sutton S, Deacon J, Choe E, et al. Molecular consequences of the R453C hypertrophic cardiomyopathy mutation on human ?-cardiac myosin motor function. Proc Natl Acad Sci U S A. 2013;110:12607-12 pubmed publisher
    ..Loaded in vitro motility assay confirms that the net force in the ensemble is indeed increased. Overall, this study suggests that the R453C mutation should result in a hypercontractile state in the heart muscle. ..
  5. Geisterfer Lowrance A, Kass S, Tanigawa G, Vosberg H, McKenna W, Seidman C, et al. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell. 1990;62:999-1006 pubmed
    ..The pathology resulting from a missense mutation at residue 403 further suggests that a critical function of myosin is disrupted by this mutation. ..
  6. Enjuto M, Francino A, Navarro Lopez F, Viles D, Pare J, Ballesta A. Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene. J Mol Cell Cardiol. 2000;32:2307-13 pubmed
    ..Mean survival of affected members was 51 years. In conclusion, a new mutation Arg723Gly in beta-myosin heavy chain gene is reported which shortens life expectancy because of sudden death and end-stage heart failure. ..
  7. Frazier A, Judge D, Schulman S, Johnson N, Holmes K, Murphy A. Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. Pediatr Cardiol. 2008;29:846-50 pubmed publisher
    ..an individual with severe disease has alterations in two sarcomeric protein genes, cardiac beta-myosin heavy chain (MYH7) and troponin I (TNNI3). Each of her children has only one of these mutations...
  8. Van Driest S, Ackerman M, Ommen S, Shakur R, Will M, Nishimura R, et al. Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy. Circulation. 2002;106:3085-90 pubmed
    ..associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1)...
  9. Pegoraro E, Gavassini B, Borsato C, Melacini P, Vianello A, Stramare R, et al. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscul Disord. 2007;17:321-9 pubmed
    In order to characterize, at the clinical, molecular and imaging level, myopathies due to MYH7 gene mutations, MYH7 gene analysis was conducted by RT-PCR/SSCP/sequencing in two patients diagnosed with myosin storage myopathy and 17 ..
  10. Greber Platzer S, Marx M, Fleischmann C, Suppan C, Dobner M, Wimmer M. Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children. J Mol Cell Cardiol. 2001;33:141-8 pubmed
  11. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003;107:2227-32 pubmed
    ..The entire coding sequences of 9 genes (MYH7, MYBPC3, TNNI3, TNNT2, MYL2, MYL3, TPM1, ACTC, andTNNC1) were analyzed in 197 unrelated index cases with familial ..
  12. Kamisago M, Sharma S, DePalma S, Solomon S, Sharma P, McDonough B, et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 2000;343:1688-96 pubmed
    ..Because distinct mutations in sarcomere proteins cause either dilated or hypertrophic cardiomyopathy, the effects of mutant sarcomere proteins on muscle mechanics must trigger two different series of events that remodel the heart. ..
  13. Marsiglia J, Credidio F, de Oliveira T, Reis R, Antunes M, de Araujo A, et al. Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. Am Heart J. 2013;166:775-82 pubmed publisher
    ..We amplified the coding sequencing of MYH7, MYBPC3, and TNNT2 genes and sequenced them with an automatic sequencer...
  14. Uro Coste E, Arne Bes M, Pellissier J, Richard P, Levade T, Heitz F, et al. Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. Neuromuscul Disord. 2009;19:163-6 pubmed publisher
    ..We have identified in a woman and her daughter, a pLeu1793Pro mutation in MYH7. This mutation has already been reported to be associated with MSM presenting as neonatal hypotony...
  15. Millat G, Bouvagnet P, Chevalier P, Dauphin C, Jouk P, Da Costa A, et al. Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. Eur J Med Genet. 2010;53:261-7 pubmed publisher
    ..unrelated HCM patients using denaturing high-performance liquid chromatography/sequencing analysis of the MYBPC3, MYH7, TNNT2 and TNNI3 genes...
  16. Muelas N, Hackman P, Luque H, Garces Sanchez M, Azorin I, Suominen T, et al. MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy. Neurology. 2010;75:732-41 pubmed publisher
    ..To describe a wide range of clinical and pathologic myopathic profiles associated with the p.K1729del mutation in the MYH7 gene, known to cause Laing distal myopathy...
  17. Watkins H, Rosenzweig A, Hwang D, Levi T, McKenna W, Seidman C, et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med. 1992;326:1108-14 pubmed
  18. Revera M, van der Merwe L, Heradien M, Goosen A, Corfield V, Brink P, et al. Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy. Cardiovasc Res. 2008;77:687-94 pubmed
    ..Individuals aged 20-65 belonging to 21 R92W(TNNT2), R403W(MYH7), or A797T(MYH7) mutation-bearing families were investigated with 2D, M-mode, and Doppler echocardiography...
  19. Buvoli M, Hamady M, Leinwand L, Knight R. Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutations. Trends Cardiovasc Med. 2008;18:141-9 pubmed publisher
    More than 200 mutations in the beta-myosin gene (MYH7) that cause clinically distinct cardiac and/or skeletal myopathies have been reported, but to date, no comprehensive statistical analysis of these mutations has been performed...
  20. Liu W, Liu W, Hu D, Zhu T, Ma Z, Yang J, et al. Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy. Am J Cardiol. 2013;112:585-9 pubmed publisher
    ..Direct gene sequencing of ?-myosin heavy chain (MYH7), myosin binding protein-C (MYBPC3), and cardiac troponin T (TNNT2) was performed in 136 unrelated Chinese HC ..
  21. Ching Y, Ghosh T, Cross S, Packham E, Honeyman L, Loughna S, et al. Mutation in myosin heavy chain 6 causes atrial septal defect. Nat Genet. 2005;37:423-8 pubmed
    ..These data provide evidence for a link between a transcription factor, a structural protein and congenital heart disease. ..
  22. Kurabayashi M, Tsuchimochi H, Komuro I, Takaku F, Yazaki Y. Molecular cloning and characterization of human cardiac alpha- and beta-form myosin heavy chain complementary DNA clones. Regulation of expression during development and pressure overload in human atrium. J Clin Invest. 1988;82:524-31 pubmed
    ..Finally, we demonstrate that MHC isozymic transition in pressure-overloaded atrium is, at least in part, regulated at a pretranslational level. ..
  23. Watkins H, Thierfelder L, Anan R, Jarcho J, Matsumori A, McKenna W, et al. Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy. Am J Hum Genet. 1993;53:1180-5 pubmed
    ..This finding predicts the prevalence of disease-causing beta cardiac MHC mutations to be comparable in all population groups. ..
  24. Chugh S, Ouzounian M, Lu Z, Mohamed S, Li W, Bousette N, et al. Pilot study identifying myosin heavy chain 7, desmin, insulin-like growth factor 7, and annexin A2 as circulating biomarkers of human heart failure. Proteomics. 2013;13:2324-34 pubmed publisher
    ..We conclude that MYH7, IGFBP7, ANXA2, and DESM are all excellent candidate plasma biomarkers of heart failure in mouse and human.
  25. Marsiglia J, Batitucci M, Paula F, Barbirato C, Arteaga E, Araújo A. [Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil]. Arq Bras Cardiol. 2010;94:10-7 pubmed
    ..the three main genes involved in HC were studied: exons 15, 20, 21, 22 and 23 of the beta-myosin heavy chain gene (MYH7), exons 7, 16, 18, 22 and 24 of the myosin binding protein C gene (MYBPC3) and exons 8 and 9 of troponin T gene (..
  26. Boon H, Sjögren R, Massart J, Egan B, Kostovski E, Iversen P, et al. MicroRNA-208b progressively declines after spinal cord injury in humans and is inversely related to myostatin expression. Physiol Rep. 2015;3: pubmed publisher
    ..Intronic to the slow, type I, muscle fiber type genes MYH7 and MYH7b, microRNA-208b and microRNA-499-5p are thought to fine-tune the expression of genes important for muscle ..
  27. Sebastian S, Goulding L, Kuchipudi S, Chang K. Extended 2D myotube culture recapitulates postnatal fibre type plasticity. BMC Cell Biol. 2015;16:23 pubmed publisher
  28. Wang C, Hata Y, Hirono K, Takasaki A, Ozawa S, Nakaoka H, et al. A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction. J Am Heart Assoc. 2017;6: pubmed publisher
    ..i>MYH7 and TAZ pathogenic variants were the most common, and rare variant collapsing analysis showed variants ..
  29. Rubattu S, Bozzao C, Pennacchini E, Pagannone E, Musumeci B, Piane M, et al. A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort. Int J Mol Sci. 2016;17: pubmed publisher
    ..We identified 41 different mutations (seven of them novel) in nine genes: MYBPC3 (17/41 = 41%); MYH7 (10/41 = 24%); TNNT2, CAV3 and MYH6 (3/41 = 7.5% each); TNNI3 (2/41 = 5%); GLA, MYL2, and MYL3 (1/41=2.5% each)...
  30. Arai S, Matsuoka R, Hirayama K, Sakurai H, Tamura M, Ozawa T, et al. Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy. Am J Med Genet. 1995;58:267-76 pubmed
    ..Missense mutations of the beta-cardiac MHC gene in hypertrophic cardiomyopathy may therefore differ according to race. ..
  31. Liu J, Liang X, Zhou D, Lai L, Xiao L, Liu L, et al. Coupling of mitochondrial function and skeletal muscle fiber type by a miR-499/Fnip1/AMPK circuit. EMBO Mol Med. 2016;8:1212-1228 pubmed publisher
    ..Here, we show that the expression of the genes encoding type I myosins, Myh7/Myh7b and their intronic miR-208b/miR-499, parallels mitochondrial function during fiber type transitions...
  32. Bánfai Z, Hadzsiev K, Pál E, Komlósi K, Melegh M, Balikó L, et al. Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report. BMC Med Genet. 2017;18:105 pubmed publisher
    Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies...
  33. Romero N, Xie T, Malfatti E, Schaeffer U, Böhm J, Wu B, et al. Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene. J Neurol Neurosurg Psychiatry. 2014;85:1149-52 pubmed publisher
    ..Exome sequencing analysis identified a novel heterozygous missense mutation p.Leu1723Pro in MYH7 segregating with the disease and affecting a conserved residue in the myosin tail domain...
  34. Boda U, Vadapalli S, Calambur N, Nallari P. Novel mutations in beta-myosin heavy chain, actin and troponin-I genes associated with dilated cardiomyopathy in Indian population. J Genet. 2009;88:373-7 pubmed
  35. Klauke B, Gaertner Rommel A, Schulz U, Kassner A, Zu Knyphausen E, Laser T, et al. High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation. PLoS ONE. 2017;12:e0189489 pubmed publisher
    ..Of these 27 (51%) were classified as likely pathogenic or pathogenic in the MYH7, MYL2, MYL3, NEXN, TNNC1, TNNI3, DES, LMNA, PKP2, PLN, RBM20, TTN, and CRYAB genes...
  36. Garcia Castro M, Coto E, Reguero J, Berrazueta J, Alvarez V, Alonso B, et al. [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. Rev Esp Cardiol. 2009;62:48-56 pubmed
    ..Our aim was to determine the frequency of mutations in the sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in a cohort of Spanish patients with hypertrophic cardiomyopathy...
  37. Ma L, Zhang W, Zhu Y, Zhang G, Zhang H, Zhang Q, et al. Identification and characterization of a biosynthetic gene cluster for tryptophan dimers in deep sea-derived Streptomyces sp. SCSIO 03032. Appl Microbiol Biotechnol. 2017;101:6123-6136 pubmed publisher
    ..for the halogenase/reductase pair SpmHF, the amino acid oxidase SpmO, and the chromopyrrolic acid (CPA) synthase SpmD, as well as the positive regulator SpmR and the putative transporter SpmA...
  38. Núñez L, Gimeno Blanes J, Rodriguez Garcia M, Monserrat L, Zorio E, Coats C, et al. Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy. Circ J. 2013;77:2358-65 pubmed
    ..of the genetic basis of HCM lead to the identification of several genes encoding sarcomeric proteins, such as MYH7, MYBPC3, TPM1, TNNT2, and TNNI3...
  39. Budde B, Binner P, Waldmüller S, Hohne W, Blankenfeldt W, Hassfeld S, et al. Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene. PLoS ONE. 2007;2:e1362 pubmed
    ..Subsequently, two genes of the disease interval, MYH6 and MYH7 (encoding the alpha- and beta-myosin heavy chain, respectively) were sequenced, leading to the identification of a ..
  40. Öner T, Özdemir R, Hazan F, Karadeniz C, Doksoz Ã, Yilmazer M, et al. The association between brain natriuretic peptide and tissue Doppler parameters in children with hypertrophic cardiomyopathy. Bosn J Basic Med Sci. 2016;16:58-63 pubmed publisher
    ..in each group, as well as genetic tests (for Arg403Gln, Arg453Cys, Arg719Trp and Arg719Gln mutations in MYH7 Exons 13, 14, 19) and BNP in the patients...
  41. Meredith C, Herrmann R, Parry C, Liyanage K, Dye D, Durling H, et al. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet. 2004;75:703-8 pubmed
    We previously linked Laing-type early-onset autosomal dominant distal myopathy (MPD1) to a 22-cM region of chromosome 14...
  42. Ackerman M, VanDriest S, Ommen S, Will M, Nishimura R, Tajik A, et al. Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective. J Am Coll Cardiol. 2002;39:2042-8 pubmed
    ..four mutations (R403Q, R453C, G716R and R719W) as highly malignant defects in the beta-myosin heavy chain (MYH7)...
  43. Aksel T, Choe Yu E, Sutton S, Ruppel K, Spudich J. Ensemble force changes that result from human cardiac myosin mutations and a small-molecule effector. Cell Rep. 2015;11:910-920 pubmed publisher
    ..We also show that omecamtiv mecarbil, a previously discovered cardiac-specific myosin activator, increases β-cardiac myosin force generation. ..
  44. Mattos B, Scolari F, Torres M, Simon L, Freitas V, Giugliani R, et al. 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. Arq Bras Cardiol. 2016;107:257-265 pubmed publisher
    ..To investigate mutations in the sarcomeric genes MYH7, MYBPC3 and TNNT2 in a cohort of HCM patients living in the extreme south of Brazil, and to evaluate genotype-..
  45. Ko Y, Chen J, Tang T, Cheng J, Lin S, Liou Y, et al. Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure. Hum Genet. 1996;97:585-90 pubmed
    ..Our data suggest that the 453Arg-->Cys mutation is associated with a malignant clinical course in FHC due not only to sudden death but also to end-stage heart failure. ..
  46. Kumar A, Rajendran V, Sethumadhavan R, Purohit R. Roadmap to determine the point mutations involved in cardiomyopathy disorder: a Bayesian approach. Gene. 2013;519:34-40 pubmed publisher
    ..In this article we have performed a comprehensive analysis of deleterious nsSNPs in MyH7 gene associated with cardiomyopathy cases using a set of computational platforms...
  47. Fang F, Cui F, He Y, Yang X, Zhao X, Xu H, et al. Dextrocardia and symmetric hypertrophic cardiomyopathy with multiple mutations of genes encoding the sarcomere proteins. Int J Cardiol. 2015;187:581-4 pubmed publisher
  48. Zheng D, Yang J, Tao Q, Geng M, Lin J, Yang X, et al. Mutations in the beta-myosin heavy chain gene in southern Chinese families with hypertrophic cardiomyopathy. J Int Med Res. 2010;38:810-20 pubmed
    ..Three mis-sense mutations of the beta-myosin heavy chain gene, MYH7, were found: valine (Val) 606 methionine (Met), arginine (Arg) 694 leucine (Leu), and Arg 723 glycine (Gly)...
  49. Millat G, Chanavat V, Crehalet H, Rousson R. Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy. Clin Chim Acta. 2010;411:1983-91 pubmed publisher
    ..High Resolution Melting (HRM) analysis was developed for prevalent HCM-causing genes (MYBPC3, MYH7, TNNT2, and TNNI3) using control DNAs and DNAs carrying previously identified gene variants...
  50. Sung J, Nag S, Mortensen K, Vestergaard C, Sutton S, RUPPEL K, et al. Harmonic force spectroscopy measures load-dependent kinetics of individual human β-cardiac myosin molecules. Nat Commun. 2015;6:7931 pubmed publisher
    ..We show that a molecule's ADP release rate depends exponentially on the applied load, in qualitative agreement with cardiac muscle, which contracts with a velocity inversely proportional to external load. ..
  51. Pedernera E, Gómora M, Meneses I, De Ita M, Mendez C. Androgen receptor is expressed in mouse cardiomyocytes at prenatal and early postnatal developmental stages. BMC Physiol. 2017;17:7 pubmed publisher
    ..The expression of AR and related genes, alpha myosin heavy chain -Myh6-, beta myosin heavy chain -Myh7- and atrial natriuretic factor -Nppa- was simultaneously evaluated by semiquantitative RT-PCR...
  52. Ruggiero L, Fiorillo C, Gibertini S, De Stefano F, Manganelli F, Iodice R, et al. A rare mutation in MYH7 gene occurs with overlapping phenotype. Biochem Biophys Res Commun. 2015;457:262-6 pubmed publisher
    Mutations in the beta-myosin heavy chain gene (MYH7) cause different muscle disorders. The specific molecular pathobiological processes that cause these different phenotypes remains unexplained...
  53. McLeod C, Bos J, Theis J, Edwards W, Gersh B, Ommen S, et al. Histologic characterization of hypertrophic cardiomyopathy with and without myofilament mutations. Am Heart J. 2009;158:799-805 pubmed publisher
    ..6). Myofilament-positive HC does not appear to represent a distinct clinical phenotypic entity as evidenced by specific histologic characteristics and septal shape. ..
  54. Warlick C, Ramachandra S, Mishra S, Donis Keller H. Dinucleotide repeat polymorphism at the human cardiac beta-myosin heavy chain gene (HMSYHCO1) locus. Hum Mol Genet. 1992;1:136 pubmed
  55. Diederich K, Eisele I, Ried T, Jaenicke T, Lichter P, Vosberg H. Isolation and characterization of the complete human beta-myosin heavy chain gene. Hum Genet. 1989;81:214-20 pubmed
    ..Comparisons of beta- and alpha-myosin heavy chain sequences indicate that gene duplication of the cardiac myosin heavy chain isogenes preceded the mammalian species differentiation. ..
  56. Greve G, Bachinski L, Friedman D, Czernuzewicz G, Anan R, Towbin J, et al. Isolation of a de novo mutant myocardial beta MHC protein in a pedigree with hypertrophic cardiomyopathy. Hum Mol Genet. 1994;3:2073-5 pubmed
  57. Fougerousse F, Dufour C, Roudaut C, Beckmann J. Dinucleotide repeat polymorphism at the human gene for cardiac beta-myosin heavy chain (MYH6). Hum Mol Genet. 1992;1:64 pubmed
  58. Anan R, Shono H, Tei C. Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy. Hum Mutat. 2000;15:584 pubmed
  59. Richard P, Isnard R, Carrier L, Dubourg O, Donatien Y, Mathieu B, et al. Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy. J Med Genet. 1999;36:542-5 pubmed
    ..So far, seven genes have been shown to be associated with the disease with the beta-myosin heavy chain (MYH7) and the cardiac myosin binding protein C (MYBPC3) genes being the most frequently involved...
  60. Nijak A, Alaerts M, Kuiperi C, Corveleyn A, Suys B, Paelinck B, et al. Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation. Eur J Med Genet. 2018;61:8-10 pubmed publisher
    ..So far, LVN(C)-EA has predominantly been linked to pathogenic variants in MYH7. However, one sporadic LVN(C)-EA case with a de novo TPM1 variant has recently been described...
  61. Nishi H, Kimura A, Harada H, Adachi K, Koga Y, Sasazuki T, et al. Possible gene dose effect of a mutant cardiac beta-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 1994;200:549-56 pubmed
    ..These observations suggest a gene-dose-like effect of the mutant cardiac beta myosin heavy chain gene on the clinical manifestation of familial hypertrophic cardiomyopathy. ..
  62. Kariya K, Farrance I, Simpson P. Transcriptional enhancer factor-1 in cardiac myocytes interacts with an alpha 1-adrenergic- and beta-protein kinase C-inducible element in the rat beta-myosin heavy chain promoter. J Biol Chem. 1993;268:26658-62 pubmed
  63. Atay S, Tetik A, Bozok Cetintaş V, Yakar Tuluce S, Tuluce K, Kayikcioglu M, et al. Beta-myosin heavy-chain mutations R403QLW, V606M, K615N and R663H in patients with hypertrophic cardiomyopathy. Anadolu Kardiyol Derg. 2014;14:244-50 pubmed publisher
    ..we aimed to detect the presence of R403QLW, V606M, K615N, and R663H mutations in beta-myosin heavy-chain gene (MYH7) and figure out the genotype-phenotype correlations in Turkish patients with HCM...
  64. Bohlega S, Abu Amero S, Wakil S, Carroll P, Al Amr R, Lach B, et al. Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. Neurology. 2004;62:1518-21 pubmed
    ..75 at D14S608. The myosin heavy chain genes MYH6 and MYH7 map to the region between D14S742 and D14S1280...
  65. Kronert W, Melkani G, Melkani A, Bernstein S. A Failure to Communicate: MYOSIN RESIDUES INVOLVED IN HYPERTROPHIC CARDIOMYOPATHY AFFECT INTER-DOMAIN INTERACTION. J Biol Chem. 2015;290:29270-80 pubmed publisher
    ..Furthermore, the same inter-domain interaction is disrupted when modeling human β-cardiac myosin heavy chain cardiomyopathy mutations E497D or R712L, implying that abolishing this salt bridge is one cause of the human disease. ..
  66. Rampersaud E, Kinnamon D, Hamilton K, Khuri S, Hershberger R, Martin E. Common susceptibility variants examined for association with dilated cardiomyopathy. Ann Hum Genet. 2010;74:110-6 pubmed publisher
    ..on all DNA polymorphic variation identified in a resequencing study of six candidate DCM genes (CSRP3, LDB3, MYH7, SCN5A, TCAP, and TNNT2) conducted in 289 unrelated white probands with DCM of unknown cause and 188 unrelated ..
  67. Dubourg O, Maisonobe T, Behin A, Suominen T, Raheem O, Penttilä S, et al. A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient. J Neurol. 2011;258:1157-63 pubmed publisher
    Laing early-onset distal myopathy is a rare autosomal dominant myopathy and caused by mutations in the MYH7 gene, encoding the slow beta myosin heavy chain...
  68. Hoedemaekers Y, Cohen Overbeek T, Frohn Mulder I, Dooijes D, Majoor Krakauer D. Prenatal ultrasound diagnosis of MYH7 non-compaction cardiomyopathy. Ultrasound Obstet Gynecol. 2013;41:336-9 pubmed publisher
    ..ventricular non-compaction cardiomyopathy (LVNC) associated with mutation of the cardiac ?-myosin heavy chain gene (MYH7)...
  69. Shoeman R, Sachse C, Höner B, Mothes E, Kaufmann M, Traub P. Cleavage of human and mouse cytoskeletal and sarcomeric proteins by human immunodeficiency virus type 1 protease. Actin, desmin, myosin, and tropomyosin. Am J Pathol. 1993;142:221-30 pubmed
    ..Nonmuscle myosin heavy chains were also cleaved by this enzyme in vitro. These data demonstrate that this protease can cause alterations in muscle cell ultrastructure in vitro that may be of clinical relevance in infected individuals. ..
  70. Morita H, Larson M, Barr S, Vasan R, O Donnell C, Hirschhorn J, et al. Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. Circulation. 2006;113:2697-705 pubmed
    ..We detected 8 mutations in 9 individuals (2 women); 7 mutations in 5 sarcomere protein genes (MYH7, MYBPC3, TNNT2, TNNI3, MYL3), and 1 GLA mutation...
  71. Chida A, Inai K, Sato H, Shimada E, Nishizawa T, Shimada M, et al. Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy. Heart Vessels. 2017;32:700-707 pubmed publisher
    ..The clinical presentations and outcomes of the remaining 127 patients with HCM, 31 β-myosin heavy chain (MYH7) mutation carriers, 19 cardiac myosin-binding protein C (MYBPC3) mutation carriers, and 77 mutation non-carriers ..
  72. Walsh R, Rutland C, Thomas R, Loughna S. Cardiomyopathy: a systematic review of disease-causing mutations in myosin heavy chain 7 and their phenotypic manifestations. Cardiology. 2010;115:49-60 pubmed publisher
    Mutations in myosin heavy chain 7 (MYH7) commonly cause cardiomyopathy. However, the relationship between mutation location, cardiomyopathy type, change in amino acid composition and disease severity is poorly understood...
  73. Lichter P, Umeda P, Levin J, Vosberg H. Partial characterization of the human beta-myosin heavy-chain gene which is expressed in heart and skeletal muscle. Eur J Biochem. 1986;160:419-26 pubmed
    ..It was demonstrated by the S1 nuclease protection technique that the beta-myosin heavy-chain gene is transcribed in human heart muscle. In addition, we have found by the same technique that it is also expressed in human skeletal muscle. ..
  74. Marian A, Braunwald E. Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. Circ Res. 2017;121:749-770 pubmed publisher
    ..Mutations in over a dozen genes encoding sarcomere-associated proteins cause HCM. MYH7 and MYBPC3, encoding ?-myosin heavy chain and myosin-binding protein C, respectively, are the 2 most ..
  75. Yang J, Zhu M, Wang Y, Hou X, Wu H, Wang D, et al. Whole-exome sequencing identify a new mutation of MYH7 in a Chinese family with left ventricular noncompaction. Gene. 2015;558:138-42 pubmed publisher
    ..Previous reports show that defects in TAZ, SCN5A, TPM1, YWHAE, MYH7, ACTC1 and TNNT2 are associated with LVNC...
  76. Patel J, Barton G, Braun R, Goss K, Haraldsdottir K, Hopp A, et al. Altered Right Ventricular Mechanical Properties Are Afterload Dependent in a Rodent Model of Bronchopulmonary Dysplasia. Front Physiol. 2017;8:840 pubmed publisher