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

Top Publications

  1. ncbi Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene
    Eric Villard
    INSERM Unité 621, IFR14, CIB Pitié Salpêtrière, 91 Bd de l Hopital, 75013 Paris, France
    Eur Heart J 26:794-803. 2005
  2. ncbi A 7.1 kbp beta-myosin heavy chain promoter, efficient for green fluorescent protein expression, probably induces lethality when overexpressing a mutated transforming growth factor-beta type II receptor in transgenic mice
    Severine Allegra
    UMR 369 INSERM UCBL and IFR 62 Laënnec
    Transgenic Res 14:69-80. 2005
  3. ncbi Activation of the beta myosin heavy chain promoter by MEF-2D, MyoD, p300, and the calcineurin/NFATc1 pathway
    Joachim D Meissner
    Department of Physiology, Hannover Medical School, Hannover, Germany
    J Cell Physiol 211:138-48. 2007
  4. ncbi Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
    H Watkins
    Cardiology Division, Brigham and Women s Hospital, Boston, MA
    N Engl J Med 326:1108-14. 1992
  5. ncbi A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation
    A A Geisterfer-Lowrance
    Cardiovascular Division, Brigham and Women s Hospital, Boston, Massachusetts 02115
    Cell 62:999-1006. 1990
  6. pmc 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
    M Kurabayashi
    Third Department of Internal Medicine, University of Tokyo, Japan
    J Clin Invest 82:524-31. 1988
  7. pmc Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy
    I Rayment
    Institute for Enzyme Research, Graduate School, University of Wisconsin, Madison 53705 4098, USA
    Proc Natl Acad Sci U S A 92:3864-8. 1995
  8. pmc Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy
    H Watkins
    Cardiology Division, Brigham and Women s Hospital, Boston, MA
    Am J Hum Genet 53:1180-5. 1993
  9. pmc Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene
    E Dausse
    Institut National de la Sante et de la Recherche Medicale, U127, Hopital Lariboisiere, Paris, France
    J Clin Invest 92:2807-13. 1993
  10. pmc Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy
    R Anan
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115
    J Clin Invest 93:280-5. 1994

Research Grants

  1. MOTOR FUNCTION OF CARDIAC B MYOSIN MUTANTS
    Mitsuo Ikebe; Fiscal Year: 1999
  2. ACTIVITY & METABOLIC CONTROL OF CARDIAC B MYOSIN
    KENNETH BALDWIN; Fiscal Year: 2001
  3. DEVELOPMENTAL AGE AND CHANGES IN MYOSIN ISOZYMES
    Frank Stockdale; Fiscal Year: 1999
  4. Molecular Epidemiology of Dilated Cardiomyopath
    Luisa Mestroni; Fiscal Year: 2005
  5. SIGNALS OF OXIDANT INDUCED CARDIOMYOCYTE HYPERTROPHY
    Qin Chen; Fiscal Year: 1999
  6. PTH RELATED PROTEIN IN VASCULAR SMOOTH MUSCLE
    Thomas Clemens; Fiscal Year: 2004
  7. MECHANICAL REGULATION OF CARDIAC METABOLISM
    David Simpson; Fiscal Year: 2000
  8. Genetic and Molecular Signaling in Heart Failure
    Evangelia Kranias; Fiscal Year: 2009
  9. Wen Yi Chen; Fiscal Year: 2014
  10. MANNITOL AND VIRULENCE IN CRYPTOCOCCUS NEOFORMANS
    Brian Wong; Fiscal Year: 2002

Detail Information

Publications264 found, 100 shown here

  1. ncbi Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene
    Eric Villard
    INSERM Unité 621, IFR14, CIB Pitié Salpêtrière, 91 Bd de l Hopital, 75013 Paris, France
    Eur Heart J 26:794-803. 2005
    ..Here, we performed a mutation analysis of four genes involved in FDCM in a population of idiopathic DCM...
  2. ncbi A 7.1 kbp beta-myosin heavy chain promoter, efficient for green fluorescent protein expression, probably induces lethality when overexpressing a mutated transforming growth factor-beta type II receptor in transgenic mice
    Severine Allegra
    UMR 369 INSERM UCBL and IFR 62 Laënnec
    Transgenic Res 14:69-80. 2005
    ..Analysis of the consequences of the blocking of the TGFbeta signalling pathway in the heart will require the use of tissue specific means of conditional gene invalidation...
  3. ncbi Activation of the beta myosin heavy chain promoter by MEF-2D, MyoD, p300, and the calcineurin/NFATc1 pathway
    Joachim D Meissner
    Department of Physiology, Hannover Medical School, Hannover, Germany
    J Cell Physiol 211:138-48. 2007
    ..Together, our findings demonstrate calcium-ionophore-induced activation of the beta MyHC promoter by NFATc1, MyoD, MEF-2D, and p300 in a calcineurin-dependent manner...
  4. ncbi Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
    H Watkins
    Cardiology Division, Brigham and Women s Hospital, Boston, MA
    N Engl J Med 326:1108-14. 1992
    ..However, neither the proportion of cases attributable to myosin mutations nor the effects of different mutations on clinical outcome are known...
  5. ncbi A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation
    A A Geisterfer-Lowrance
    Cardiovascular Division, Brigham and Women s Hospital, Boston, Massachusetts 02115
    Cell 62:999-1006. 1990
    ..The pathology resulting from a missense mutation at residue 403 further suggests that a critical function of myosin is disrupted by this mutation...
  6. pmc 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
    M Kurabayashi
    Third Department of Internal Medicine, University of Tokyo, Japan
    J Clin Invest 82:524-31. 1988
    ..Finally, we demonstrate that MHC isozymic transition in pressure-overloaded atrium is, at least in part, regulated at a pretranslational level...
  7. pmc Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy
    I Rayment
    Institute for Enzyme Research, Graduate School, University of Wisconsin, Madison 53705 4098, USA
    Proc Natl Acad Sci U S A 92:3864-8. 1995
    ..kindreds, the disease is caused by > 29 missense mutations in the cardiac beta-myosin heavy chain (MYH7) gene...
  8. pmc Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy
    H Watkins
    Cardiology Division, Brigham and Women s Hospital, Boston, MA
    Am J Hum Genet 53:1180-5. 1993
    ..This finding predicts the prevalence of disease-causing beta cardiac MHC mutations to be comparable in all population groups...
  9. pmc Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene
    E Dausse
    Institut National de la Sante et de la Recherche Medicale, U127, Hopital Lariboisiere, Paris, France
    J Clin Invest 92:2807-13. 1993
    ..Our results also indicate that codon 403 of the beta-myosin heavy chain gene is a hot spot for mutations causing FHC...
  10. pmc Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy
    R Anan
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115
    J Clin Invest 93:280-5. 1994
    ..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...
  11. pmc Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy
    L Fananapazir
    Cardiology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892
    Proc Natl Acad Sci U S A 90:3993-7. 1993
    ..In less than half of kindreds with HCM, the disease is linked to the beta-myosin heavy-chain gene locus (MYH7)...
  12. ncbi Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy
    M Kamisago
    Cardiovascular Division, Brigham and Women s Hospital, and Harvard Medical School and Howard Hughes Medical Institute, Boston, MA, USA
    N Engl J Med 343:1688-96. 2000
    ..To elucidate this important cause of heart failure, we investigated other genetic causes of dilated cardiomyopathy...
  13. ncbi Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene
    M Enjuto
    Molecular Cardiology Laboratory, Laboratory of Clinical Biochemistry and the Cardiovascular Institute, Hospital Clinic IDIBAPS, University of Barcelona, Villarroel 170, Barcelona, 08036, Spain
    J Mol Cell Cardiol 32:2307-13. 2000
    ..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...
  14. ncbi Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children
    S Greber-Platzer
    Department of Pediatrics, Division of Pediatric Cardiology, University of Vienna, Wahringer Gurtel 18 20, Vienna, A 1090, Austria
    J Mol Cell Cardiol 33:141-8. 2001
    ....
  15. ncbi Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy
    Sara L Van Driest
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minn 55905, USA
    Circulation 106:3085-90. 2002
    ..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)...
  16. ncbi Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy
    Pascale Richard
    UF de Cardiogénétique et Myogénétique, Service de Biochimie B, Hopital de la Salpetriere, 47 Bld de l Hopital, 75651 Paris Cedex 13, France
    Circulation 107:2227-32. 2003
    ..The aim of the present study was to perform a systematic screening of these genes in a large population, to evaluate the distribution of the disease genes, and to determine the best molecular strategy in clinical practice...
  17. ncbi Mutation in myosin heavy chain 6 causes atrial septal defect
    Yung Hao Ching
    Institute of Genetics, University of Nottingham, Queen s Medical Centre, Nottingham NG7 2UH, UK
    Nat Genet 37:423-8. 2005
    ..These data provide evidence for a link between a transcription factor, a structural protein and congenital heart disease...
  18. ncbi Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy
    Andreas Perrot
    Kardiologie am Campus Buch und Virchow Klinikum, Charité Universitätsmedizin Berlin und Max Delbrück Centrum für Molekulare Medizin, Wiltbergstrasse 50, 13125 Berlin, Germany
    J Mol Med (Berl) 83:468-77. 2005
    ..Mutations in the cardiac beta-myosin heavy chain gene (MYH7) are responsible for the disease in about 30% of cases where mutations were identified...
  19. ncbi MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy
    Elena Pegoraro
    Department of Neurosciences, University of Padova, Italy
    Neuromuscul Disord 17:321-9. 2007
    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 ..
  20. ncbi Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy
    Miriam Revera
    Department of Cardiology, IRCCS San Matteo Hospital, Pavia, Italy
    Cardiovasc Res 77:687-94. 2008
    ..The aims of this study were to investigate whether distinct HCM-mutations have different consequences for cardiac structure and function in the absence of the confounding effects of hypertrophy...
  21. doi Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations
    Aisha Frazier
    Department of Pediatrics, Cardiology Division, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA
    Pediatr Cardiol 29:846-50. 2008
    ..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...
  22. pmc Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutations
    Massimo Buvoli
    Department of Molecular, Cellular, and Developmental Biology, University of Colorado, Boulder, CO 80309, USA
    Trends Cardiovasc Med 18:141-9. 2008
    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...
  23. doi Genotype phenotype correlations of cardiac beta-myosin heavy chain mutations in Indian patients with hypertrophic and dilated cardiomyopathy
    Taranjit Singh Rai
    Department of Experimental Medicine and Biotechnology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
    Mol Cell Biochem 321:189-96. 2009
    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 ..
  24. doi Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation
    Emmanuelle Uro-Coste
    Department of Pathology, Rangueil University Hospital, TSA 50032, 31059 Toulouse Cedex 9, France
    Neuromuscul Disord 19:163-6. 2009
    ..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...
  25. doi MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy
    N Muelas
    Department of Neurology, Hospital Universitario La Fe, Avda Campanar 21, 46009 Valencia, Spain
    Neurology 75:732-41. 2010
    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.
  26. doi New phenotype and pathology features in MYH7-related distal myopathy
    Giorgio Tasca
    Don Carlo Gnocchi ONLUS Foundation, Italy
    Neuromuscul Disord 22:640-7. 2012
    ..is an autosomal dominant disease due to mutations in the gene encoding for the human slow-β myosin heavy chain, MYH7. Most reports describe it as a mild, early onset myopathy with involvement usually restricted to foot extensors, ..
  27. doi Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement
    T Cullup
    DNA Laboratory, GSTS Pathology, Guy s Hospital, London, UK
    Neuromuscul Disord 22:1096-104. 2012
    ..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 ..
  28. pmc Molecular consequences of the R453C hypertrophic cardiomyopathy mutation on human β-cardiac myosin motor function
    Ruth F Sommese
    Department of Biochemistry, Stanford University School of Medicine, Stanford, CA 94305, USA
    Proc Natl Acad Sci U S A 110:12607-12. 2013
    ..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. ..
  29. ncbi The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product
    T Jaenicke
    Max Planck Institut for Medical Research, Department of Cell Physiology, Heidelberg, Federal Republic of Germany
    Genomics 8:194-206. 1990
    ..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...
  30. pmc The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events
    J C Moolman-Smook
    US MRC Centre for Molecular and Cellular Biology, Department of Medical Biochemistry, University of Stellenbosch Medical School, Tygerberg, South Africa
    Am J Hum Genet 65:1308-20. 1999
    ..The milder phenotype of the betaMHC mutations may account for the presence of these founder effects, whereas population dynamics alone may have overridden the reproductive disadvantage incurred by the more lethal, cTnT Arg92Trp mutation...
  31. pmc Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance
    B Seebohm
    Molecular and Cell Physiology, Medical School, Hannover, Germany
    Biophys J 97:806-24. 2009
    ..Because amino acids 719 and 723 are nonconserved residues, cross-bridge stiffness may well be specifically tuned for different myosins...
  32. ncbi [Demonstration of a fifth locus implicated in familial hypertrophic cardiomyopathies]
    C Hengstenberg
    INSERM U153, , Paris
    Arch Mal Coeur Vaiss 87:1655-62. 1994
    ..There is, therefore, a fifth gene implicated in familial HCM. The heterogeneity of the disease seems even greater than originally thought...
  33. ncbi The influence of dietary salt and plasma renin activity on myosin heavy chain gene expression in rat hearts
    P Buttrick
    Montefiore Medical Center, Bronx, NY 10467
    Am J Hypertens 6:579-85. 1993
    ..However, sodium restriction, either via its hemodynamic or humoral effects, is sufficient to induce a physiologic change in myosin heavy chain gene expression in rats...
  34. ncbi Activity of the beta-myosin heavy chain antisense promoter responds to diabetes and hypothyroidism
    Julia Giger
    Department of Physiology and Biophysics, University of California, Irvine, D 346, Med Sci I, Irvine, CA 92697, USA
    Am J Physiol Heart Circ Physiol 292:H3065-71. 2007
    ..We conclude that there is an intergenic promoter that is active in the AS direction and that the putative RAR element is a vital regulatory site...
  35. ncbi Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients
    Monica Garcia-Castro
    Genética Molecular Instituto de Investigación Nefrológica IRSIN FRIAT and Servicio de Cardiología, Hospital Central de Asturias, 33006 Oviedo, Spain
    Clin Chem 49:1279-85. 2003
    Mutations in the cardiac beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes are reportedly responsible for up to 40% of familial cases with hypertrophic cardiomyopathy (HC)...
  36. pmc Simvastatin induces regression of cardiac hypertrophy and fibrosis and improves cardiac function in a transgenic rabbit model of human hypertrophic cardiomyopathy
    R Patel
    Section of Cardiology, Department of Medicine, The DeBakey Heart Center, The Methodist Hospital and Baylor College of Medicine, Houston, Texas, USA
    Circulation 104:317-24. 2001
    ..These findings highlight the need for clinical trials to determine the effects of simvastatin on cardiac hypertrophy, fibrosis, and dysfunction in humans with hypertrophic cardiomyopathy and heart failure...
  37. pmc Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis
    A Woo
    Division of Cardiology, Toronto General Hospital, University Health Network, University of Toronto, Toronto, Ontario, Canada
    Heart 89:1179-85. 2003
    ....
  38. ncbi Mutation of Arg723Gly in beta-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy
    Jun Hua Yang
    Department of Cardiology, First Affiliated Hospital of Soochow University, Suzhou 215006, China
    Chin Med J (Engl) 119:1785-9. 2006
    ..This study was to reveal the disease-causing gene mutations in Chinese population with HCM, and to analyze the correlation between the genotype and phenotype...
  39. ncbi Role of mitogen-activated protein kinase pathway in reactive oxygen species-mediated endothelin-1-induced beta-myosin heavy chain gene expression and cardiomyocyte hypertrophy
    Tzu Hurng Cheng
    Department of Medicine, Taipei Medical University Wan Fang Hospital, Taiwan
    J Biomed Sci 12:123-33. 2005
    ..These data demonstrate the involvement of ROS in ET-1-induced hypertrophic responses and beta-MyHC expression. ROS mediate ET-1-induced activation of MAPK pathways, which culminates in hypertrophic responses and beta-MyHC expression...
  40. ncbi Role of myocyte-specific enhancer-binding factor (MEF-2) in transcriptional regulation of the alpha-cardiac myosin heavy chain gene
    E A Adolph
    Department of Medicine, University of Cincinnati College of Medicine, Ohio 45267 0575
    J Biol Chem 268:5349-52. 1993
    ..In addition, cardiac-specific expression of the transgene was perturbed with significant levels of ectopic expression occurring in the aorta...
  41. ncbi Heavy long-term ethanol consumption induces an alpha- to beta-myosin heavy chain isoform transition in rat
    J Meehan
    University of Illinois at Chicago, Department of Physiology and Biophysics, 60612, USA
    Basic Res Cardiol 94:481-8. 1999
    ..A functional consequence of this transition in MHC phenotype is demonstrated by significant decreases in the myofibrillar and myosin ATPase activities...
  42. ncbi Impact of beta-myosin heavy chain isoform expression on cross-bridge cycling kinetics
    Veronica L M Rundell
    Center for Cardiovascular Research, Department of Physiology and Biophysics, University of Illinois at Chicago, Chicago, Illinois 60612, USA
    Am J Physiol Heart Circ Physiol 288:H896-903. 2005
    ..05 (ANOVA)] Thus cross-bridge cycling, under high strain, for alpha-MHC is three times higher than for beta-MHC. Furthermore, under isometric conditions, alpha-MHC and beta-MHC cross bridges hydrolyze ATP independently of one another...
  43. ncbi Diastolic dysfunction without left ventricular hypertrophy is an early finding in children with hypertrophic cardiomyopathy-causing mutations in the beta-myosin heavy chain, alpha-tropomyosin, and myosin-binding protein C genes
    Tuija Poutanen
    Department of Pediatrics, Kuopio University Hospital, Kuopio, Finland
    Am Heart J 151:725.e1-725.e9. 2006
    ..We investigated the presence of left ventricular hypertrophy (LVH) and features of diastolic dysfunction in genotype-confirmed children from families with hypertrophic cardiomyopathy (HCM) and healthy control children...
  44. ncbi Different phenotypes among slow/beta myosin heavy chain-containing fibres of rabbit masseter muscle: a novel type of diversity in adult muscle
    A W English
    Department of Cell Biology, Emory University School of Medicine, Atlanta, Georgia, USA
    J Muscle Res Cell Motil 19:525-35. 1998
    ..We feel that it is a regulated process and that, at least for some phenotypes, this regulation may be hormonally influenced...
  45. ncbi Simultaneous quantification of human cardiac alpha- and beta-myosin heavy chain proteins by MALDI-TOF mass spectrometry
    Steve M Helmke
    Proteomics Facility, Box C 238, University of Colorado Health Sciences Center, 4200 East Ninth Avenue, Denver, Colorado 80262, USA
    Anal Chem 76:1683-9. 2004
    ..This method is of general applicability, especially when isoform quantification is required...
  46. pmc Functional effects of the hypertrophic cardiomyopathy R403Q mutation are different in an alpha- or beta-myosin heavy chain backbone
    Susan Lowey
    Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT 05405, USA
    J Biol Chem 283:20579-89. 2008
    ..Thus, the functional consequences of the mutation are fundamentally changed depending upon the context of the cardiac MHC isoform...
  47. ncbi Dissociation of left ventricular hypertrophy, beta-myosin heavy chain gene expression, and myosin isoform switch in rats after ascending aortic stenosis
    R J Wiesner
    Department of Physiology, University of Heidelberg, Germany
    Circulation 95:1253-9. 1997
    ..In the present investigation, beta-MHC gene expression was studied in an experimental model of pressure-over-load hypertrophy that is not associated with a concurrent activation of the circulating renin-angiotensin system...
  48. ncbi Increased beta-myosin heavy chain in acute cellular rejection following human heart transplantation
    Mohamad H Yamani
    Department of Cardiovascular Medicine, Cleveland Clinic Foundation, Kaufman Center for Heart Failure, OH, USA
    Am J Transplant 2:386-8. 2002
    ..However, altered expression of beta-myosin heavy chain in human cardiac rejection has not been determined...
  49. ncbi Long-term alcohol administration inhibits synthesis of both myofibrillar and sarcoplasmic proteins in heart
    Thomas C Vary
    Department of Cellular and Molecular Physiology, Pennsylvania State University College of Medicine, Hershey, PA 17033, USA
    Metabolism 54:212-9. 2005
    ..We conclude that translational control mechanisms appear to be important in regulating the expression of myocardial proteins during long-term ethanol intoxication...
  50. pmc The CAAT-binding transcription factor 1/nuclear factor 1 binding site is important in beta-myosin heavy chain antisense promoter regulation in rats
    Julia M Giger
    Department of Physiology and Biophysics, University of California, Irvine, D 346, Medical Sciences Building I, Irvine, CA 92697, USA
    Exp Physiol 94:1163-73. 2009
    ..Based on these findings, we conclude that the NF1 site is critical to betaAS promoter regulation...
  51. ncbi Human homozygous R403W mutant cardiac myosin presents disproportionate enhancement of mechanical and enzymatic properties
    Dagmar I Keller
    INSERM U582, Institut de Myologie, , , 47, , 75651 Paris Cedex 13, France
    J Mol Cell Cardiol 36:355-62. 2004
    ..Most families present mutations in MYBPC3 and MYH7 encoding cardiac myosin-binding protein C and beta-myosin heavy chain...
  52. ncbi Analysis of myosin heavy chain functionality in the heart
    Maike Krenz
    Cincinnati Children s Hospital Medical Center, The Children s Hospital Research Foundation, MLC 7020, Cincinnati, Ohio 45229 3039, USA
    J Biol Chem 278:17466-74. 2003
    ..In mouse cardiac isoforms, myosin functionality does not depend on Loop 1 or Loop 2 sequences and must lie partially in other non-homologous residues...
  53. pmc Localization of the binding site of the C-terminal domain of cardiac myosin-binding protein-C on the myosin rod
    Emily Flashman
    Department of Cardiovascular Medicine, University of Oxford, Wellcome Trust Centre of Human Genetics, Oxford OX3 7BN, UK
    Biochem J 401:97-102. 2007
    ..No effect of these mutations on C10 binding was however detected. We interpret our results with respect to the localization of the proposed trimeric collar on the thick filament...
  54. ncbi A MyoD1-independent muscle-specific enhancer controls the expression of the beta-myosin heavy chain gene in skeletal and cardiac muscle cells
    W R Thompson
    Howard Hughes Medical Institute, Department of Cardiology, Children s Hospital, Boston, Massachusetts
    J Biol Chem 266:22678-88. 1991
    ..These observations provide evidence for the existence of myogenic regulatory programs that precede and/or differ from those governed by known myogenic helix-loop-helix transactivators...
  55. pmc Effects of cardiac myosin isoform variation on myofilament function and crossbridge kinetics in transgenic rabbits
    Takeki Suzuki
    Department of Medicine, Cardiology Unit, Fletcher Allen Health Care, Burlington, VT 05401, USA
    Circ Heart Fail 2:334-41. 2009
    ..This study was undertaken to identify a myofilament-based mechanism underlying tachycardia-induced cardiomyopathy protection and to extrapolate the impact of MHC isoform variation on myofilament function in human hearts...
  56. ncbi Myopathies associated with myosin heavy chain mutations
    A Oldfors
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Acta Myol 23:90-6. 2004
    ..Three major MyHC isoforms are expressed in human skeletal muscle (type I, MYH7, expressed in type 1 fibres; IIa, MYH2, expressed in 2A fibres; IIx, MYH1, expressed in 2B fibres)...
  57. ncbi Investigation of a truncated cardiac troponin T that causes familial hypertrophic cardiomyopathy: Ca(2+) regulatory properties of reconstituted thin filaments depend on the ratio of mutant to wild-type protein
    C Redwood
    Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Circ Res 86:1146-52. 2000
    ..Further, these findings underscore the importance of studying mixed mutant:wild-type preparations to faithfully model this autosomal-dominant disease...
  58. pmc Tissue Doppler imaging consistently detects myocardial contraction and relaxation abnormalities, irrespective of cardiac hypertrophy, in a transgenic rabbit model of human hypertrophic cardiomyopathy
    S F Nagueh
    Section of Cardiology, Department of Medicine, Baylor College of Medicine, Houston, Texas, USA
    Circulation 102:1346-50. 2000
    ....
  59. pmc Enhanced transmural fiber rotation and connexin 43 heterogeneity are associated with an increased upper limit of vulnerability in a transgenic rabbit model of human hypertrophic cardiomyopathy
    Crystal M Ripplinger
    Department of Biomedical Engineering, Washington University, St Louis, MO 63130, USA
    Circ Res 101:1049-57. 2007
    ....
  60. ncbi [Genetic causes of hypertrophic cardiomyopathy]
    H P Vosberg
    Max Planck Institut fur Physiologische und Klinische Forschung, Abteilung Experimentelle Kardiologie, Bad Nauheim
    Med Klin (Munich) 93:252-9. 1998
    ....
  61. doi Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations
    Francesca Girolami
    Unit for Genetic Diagnosis, Careggi University Hospital, Florence, Italy
    J Am Coll Cardiol 55:1444-53. 2010
    ..The aim of this study was to describe the clinical profile associated with triple sarcomere gene mutations in a large hypertrophic cardiomyopathy (HCM) cohort...
  62. pmc The molecular genetic basis for hypertrophic cardiomyopathy
    A J Marian
    Section of Cardiology, Department of Medicine, Baylor College of Medicine, Houston, TX 77030, USA
    J Mol Cell Cardiol 33:655-70. 2001
    ..Understanding the pathogenesis of HCM could provide for genetic based diagnosis, risk stratification, treatment and prevention of cardiac phenotypes...
  63. ncbi Subclinical skeletal muscle abnormalities in patients with hypertrophic cardiomyopathy and their relation to clinical characteristics
    Aris Anastasakis
    Department of Cardiology, University of Athens, Hippokration Hospital, Athens, Greece
    Int J Cardiol 89:249-56. 2003
    ....
  64. ncbi Cocaine produces cardiac hypertrophy by protein kinase C dependent mechanisms
    Robert J Henning
    Department of Medicine, University of South Florida College of Medicine and the James A Haley Hospital, Tampa, Florida, USA
    J Cardiovasc Pharmacol Ther 8:149-60. 2003
    ..We determined whether cocaine directly increases cardiomyocyte protein content and whether protein kinase C is important in this process...
  65. ncbi Atrial natriuretic factor and brain natriuretic peptide gene expression in the spontaneous hypertensive rat during postnatal development
    M L Kuroski de Bold
    Department of Pathology, University of Ottawa Heart Institute, Ottawa Civic Hospital, ON, Canada
    Am J Hypertens 11:1006-18. 1998
    ..The regulation of NP is not coordinated in either gender during the development of hypertension. The activation of the BNP gene in female SHR suggests that BNP might play an important role at the onset of hypertension...
  66. ncbi Altered cardiac hormone and contractile protein messenger RNA levels following left ventricular myocardial infarction in the rat: an in situ hybridization histochemical study
    R L Young
    University of Melbourne, Department of Medicine, Austin, Australia
    Cardiovasc Res 37:187-201. 1998
    ..The present study examined the spatiotemporal expression of cardiac contractile protein and peptide hormone mRNA following left ventricular myocardial infarction (LVMI) in the rat heart...
  67. ncbi Cocaine activates calcium/calmodulin kinase II and causes cardiomyocyte hypertrophy
    Robert J Henning
    Department of Medicine, University of South Florida College of Medicine and the James A Haley VA Hospital, Tampa, Florida 33612, USA
    J Cardiovasc Pharmacol 48:802-13. 2006
    ..6%, and beta-MHC by 66.2% (P < 0.01) and significantly decreased cocaine-induced Ca transients and [Ca]i. We conclude that CaMKII activation is an important mechanism whereby cocaine can cause myocyte hypertrophy...
  68. ncbi [Genetics of dilated cardiomyopathy]
    K J Osterziel
    Franz Volhard Klinik Charité Humboldt Universität zu Berlin 13122 Berlin, Germany
    Z Kardiol 90:461-9. 2001
    ..Better understanding of the expression and function of disease genes may eventually result in new diagnostic and therapeutic tools in order to improve the prognosis of this severe disorder...
  69. ncbi [Genetics of hereditary cardiopathies]
    S Debrus
    CRBM, CNRS UPR 9008 et INSERM U249, Montpellier
    Arch Mal Coeur Vaiss 89:619-27. 1996
    ..1, 3p22 and 12q1). In the near future, these incoming data will deeply modify the cardiovascular field...
  70. ncbi Combined effects of ramipril and angiotensin II receptor blocker TCV116 on rat congestive heart failure after myocardial infarction
    Ze wei Tao
    Department of Cardiology, Chinese People Armed Police Force Hospital of Hunan Province, Changsha 410006, China
    Chin Med J (Engl) 118:146-54. 2005
    ..The present study was conducted to examine the combined effects of a chronic ACEI, ramipril, and a chronic Ang II type 1 receptor blocker, TCV116, on rat CHF after myocardial infarction (MI)...
  71. pmc Insights into human beta-cardiac myosin function from single molecule and single cell studies
    Sivaraj Sivaramakrishnan
    Department of Biochemistry, Stanford University, Stanford, CA, USA
    J Cardiovasc Transl Res 2:426-40. 2009
    ..Thirty percent of the point mutations that result in hypertrophic cardiomyopathy are localized to MYH7, the gene encoding human beta-cardiac myosin heavy chain (beta-MyHC)...
  72. ncbi Increased protein kinase C activity in myotrophin-induced myocyte growth
    P Sil
    Department of Molecular Cardiology, The Lerner Research Institute, The Cleveland Clinic Foundation, Ohio 44195, USA
    Circ Res 82:1173-88. 1998
    ..Our data suggest that myotrophin exerts its action on protein synthesis, possibly through a tyrosine kinase-coupled pathway and translocation of PKC from the cytosol to the cell membrane...
  73. ncbi Novel cell lines derived from adult human ventricular cardiomyocytes
    Mercy M Davidson
    Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    J Mol Cell Cardiol 39:133-47. 2005
    ..These cell lines are potentially useful in vitro models to study developmental regulation of cardiomyocytes in normal and pathological states...
  74. ncbi [Clinical features of dilated cardiomyopathy-like hypertrophic cardiomyopathy caused by a 13261 G > A mutation in cardiac myosin-binding protein C gene]
    Shu xia Wang
    Sino German Laboratory for Molecular Medicine, Fu Wai Cardiovascular Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China
    Zhonghua Xin Xue Guan Bing Za Zhi 35:17-20. 2007
    ..To study the disease-causing gene mutation in Chinese patients with hypertrophic cardiomyopathy (HCM) and to analyze the genotype and phenotype correlation...
  75. ncbi Expression of proto-oncogenes and gene mutation of sarcomeric proteins in patients with hypertrophic cardiomyopathy
    H Kai
    From the Cardiovascular Research Institute, Kurume University and the Third Department of Internal Medicine, Kurume University School of Medicine, Kurume, Japan
    Circ Res 83:594-601. 1998
    ..It is possible that ss-MHC gene mutation has some effect on the regulation of proto-oncogene expression in HCM...
  76. pmc Evidence of MyomiR network regulation of beta-myosin heavy chain gene expression during skeletal muscle atrophy
    John J McCarthy
    Department of Physiology, College Health Sciences, University of Kentucky, Lexington, Kentucky 40536 0298, USA
    Physiol Genomics 39:219-26. 2009
    ..These results further expand the role of miRs in adult skeletal muscle and are consistent with a model in which the MyomiR network regulates slow myosin expression during muscle atrophy...
  77. ncbi Reduced inotropic reserve and increased susceptibility to cardiac ischemia/reperfusion injury in phosphocreatine-deficient guanidinoacetate-N-methyltransferase-knockout mice
    Michiel Ten Hove
    Department of Cardiovascular Medicine, University of Oxford, Oxford, England
    Circulation 111:2477-85. 2005
    ..To characterize the role of a substantially impaired CK/PCr system in heart, we studied the cardiac phenotype of wild-type (WT) and GAMT-/- mice...
  78. ncbi Gender differences in molecular remodeling in pressure overload hypertrophy
    E O Weinberg
    Charles A Dana Research Institute, Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02215, USA
    J Am Coll Cardiol 34:264-73. 1999
    ..The objective of this study was to examine gender differences in left ventricular (LV) function and expression of cardiac genes in response to LV pressure overload due to ascending aortic stenosis in rats...
  79. ncbi The antioxidant tempol inhibits cardiac hypertrophy in the insulin-resistant GLUT4-deficient mouse in vivo
    R H Ritchie
    Molecular Pharmacology Laboratory, Wynn Department of Metabolic Cardiology, Baker Heart Research Institute, St Kilda Road Central, Melbourne, VIC 8008, Australia
    J Mol Cell Cardiol 42:1119-28. 2007
    ..Antioxidants may offer new alternatives in this disorder...
  80. ncbi Rescuing the N-cadherin knockout by cardiac-specific expression of N- or E-cadherin
    Y Luo
    Center for Research on Reproduction and Women s Health, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Development 128:459-69. 2001
    ....
  81. pmc Progressive atrioventricular conduction defects and heart failure in mice expressing a mutant Csx/Nkx2.5 homeoprotein
    H Kasahara
    Cardiovascular Division, Beth Israel Deaconess Medical Center, and Department of Medicine, Children s Hospital, Boston, Massachusetts, USA
    J Clin Invest 108:189-201. 2001
    ..This transgenic mouse model may be useful in the study of the pathogenesis of cardiac dysfunction associated with CSX/NKX2.5 mutations in humans...
  82. ncbi Ral GDP dissociation stimulator and Ral GTPase are involved in myocardial hypertrophy
    Miki Kawai
    Division of Cardiovascular and Respiratory Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, 7 5 2, Kusunoki cho, Chuo Ku, Kobe 650 0017, Japan
    Hypertension 41:956-62. 2003
    ..SATA3 may play a key role in Ral-GDS expression and Ral activation. Our data provide evidence that the Ral-GDS/Ral signaling pathway is a link to the process of cardiac hypertrophy...
  83. ncbi Mutations profile in Chinese patients with hypertrophic cardiomyopathy
    Lei Song
    Sino German Laboratory for Molecular Medicine, Fuwai Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China
    Clin Chim Acta 351:209-16. 2005
    ..There are more than 1 million patients with hypertrophic cardiomyopathy (HCM) in China, but the genetic basis is presently unknown...
  84. ncbi How accurately do semi-permeable membrane devices measure the bioavailability of polycyclic aromatic hydrocarbons to Daphnia magna?
    Catherine Gourlay
    Cemagref, Unité de Recherches Hydrosystèmes et Bioprocédés, Parc de Tourvoie, BP 44, 92163 Antony cedex, France
    Chemosphere 61:1734-9. 2005
    ..This study aims at evaluating the ability for SPMD to sample polycyclic aromatic hydrocarbons (fluoranthene, pyrene and benzo[a]pyrene) that are actually bioavailable ..
  85. ncbi Comparison of mussels and semi-permeable membrane devices as intertidal monitors of polycyclic aromatic hydrocarbons at oil spill sites
    Paul D Boehm
    Exponent, 2 Clock Tower Place, Suite 340, Maynard, MA 01754, USA
    Mar Pollut Bull 50:740-50. 2005
    ..and mussels collected adjacent to those pits at oiled sites were higher than in SPMDs and mussels from non-pitted SPMD locations approximately 3-15 m from the pits. Pitting released buried oil making its PAH bioavailable...
  86. pmc Prevention of cardiac hypertrophy by atorvastatin in a transgenic rabbit model of human hypertrophic cardiomyopathy
    Vinitha Senthil
    Department of Medicine, Baylor College of Medicine, One Baylor Plaza, 519D, Houston, TX 77030, USA
    Circ Res 97:285-92. 2005
    ..The results indicate potential beneficial effects of atorvastatin in prevention of cardiac hypertrophy, a major determinant of morbidity in all forms of cardiovascular diseases, and beckon clinical studies in humans with HCM...
  87. ncbi In vitro cardiomyogenic differentiation of adult human bone marrow mesenchymal stem cells. The role of 5-azacytidine
    Polychronis Antonitsis
    First Department of Thoracic and Cardiovascular Surgery, Aristotle University of Thessaloniki, AHEPA Hospital, Thessaloniki, Greece
    Interact Cardiovasc Thorac Surg 6:593-7. 2007
    ..These results indicate that adult human bone marrow mesenchymal stem cells can differentiate towards a cardiomyogenic lineage in vitro...
  88. doi Structural effects of the slow/b-cardiac myosin heavy chain R453C mutation in cardiac and skeletal muscle
    Homa Tajsharghi
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    Scand Cardiovasc J 42:153-6. 2008
    ..In some families, HCM is caused by distinct mutations of the cardiac beta myosin heavy chain gene (MYH7).
  89. ncbi Hypertrophic cardiomyopathy due to beta-myosin heavy chain mutation with extreme phenotypic variability within a family
    D I Keller
    Department of Cardiology, University Hospital Basel, Switzerland
    Int J Cardiol 134:e87-93. 2009
    ..In this case report a family with proven beta-myosin heavy chain mutation (MYH7) with 3 affected family members with huge phenotypic variability is described...
  90. doi A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy
    Simon Karam
    Department of Pediatric Cardiology, Groupe Hospitalier Est, Hospices Civils de Lyon, Lyon, France
    Congenit Heart Dis 3:138-43. 2008
    ..pediatric case of restrictive cardiomyopathy secondary to a de novo mutation in the cardiac myosin heavy chain gene MYH7. The clinical course is characterized by an early onset of disease, mild hypertrophy of the left ventricle and a ..
  91. pmc The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils
    Alexandra Belus
    Department of Physiology, University of Florence, Florence, Italy
    J Physiol 586:3639-44. 2008
    ..Increased energy cost of tension generation may be central to the FHC disease process, help explain some unresolved clinical observations, and carry significant therapeutic implications...
  92. doi Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy
    Taranjit Singh Rai
    Department of Experimental Medicine and Biotechnology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
    Mol Cell Biochem 331:187-92. 2009
    ..We studied a group of patients with restrictive physiology for mutations in beta-myosin heavy chain (MYH7) and troponin I (TNNI3) gene...
  93. doi Partitioning of fluorotelomer alcohols (FTOH) to semipermeable membrane devices (SPMD)
    Stefan Fiedler
    Helmholtz Zentrum Munchen, National Research Centre for Environmental Health, Institute of Ecological Chemistry, Ingolstaedter Landstrasse 1, 85764, Neuherberg, Germany
    Environ Sci Pollut Res Int 17:420-8. 2010
    ..In this study, triolein-filled low-density polyethylene tubes were used as semipermeable membrane devices (SPMD) and tested for their suitability as passive air samplers for FTOH.
  94. doi Exogenous expression of HIF-1 alpha promotes cardiac differentiation of embryonic stem cells
    Kwong Man Ng
    Stem Cell and Regenerative Medicine Program, Research Centre of Heart, Brain, Hormone and Healthy Ageing, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China
    J Mol Cell Cardiol 48:1129-37. 2010
    ..These findings suggest that keen activation of the HIF-1 pathway enhances differentiation and maturation of cardiomyocytes derived from ESCs...
  95. doi Peripheral benzodiazepine receptor ligand Ro5-4864 inhibits isoprenaline-induced cardiac hypertrophy in rats
    Amardeep Jaiswal
    Department of Pharmacology, All India Institute of Medical Sciences, New Delhi 110029, India
    Eur J Pharmacol 644:146-53. 2010
    ..This is the first study to demonstrate a salutary effect of Ro5-4864 in experimental cardiac hypertrophy...
  96. doi Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy
    Gilles Millat
    Laboratoire de Cardiogénétique Moléculaire, Centre de biologie et pathologie est, Hospices Civils de Lyon, Lyon, France
    Eur J Med Genet 53:261-7. 2010
    ..unrelated HCM patients using denaturing high-performance liquid chromatography/sequencing analysis of the MYBPC3, MYH7, TNNT2 and TNNI3 genes...
  97. doi Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy
    Houman Homayoun
    Department of Neurology, University of Pittsburgh, Pittsburgh, PA 15213, USA
    Neuromuscul Disord 21:219-22. 2011
    ..We identified a de-novo, heterozygous, missense mutation, c.2348G>C (p. Arg783Pro), in exon 21 of the MYH7 gene, which encodes slow skeletal muscle fiber/β-cardiac myosin heavy chain protein, that replaces a highly ..
  98. doi Cardiovascular effects of chronic treatment with a β2-adrenoceptor agonist relieving neuropathic pain in mice
    Nada Choucair-Jaafar
    Institut des Neurosciences Cellulaires et Integratives, Centre National de la Recherche Scientifique, 21 rue René Descartes, 67084 Strasbourg Cedex, France
    Neuropharmacology 61:51-60. 2011
    ..natriuretic peptide (Nppa), periostin (Postn), connective tissue growth factor (Ctgf) and β-myosin heavy chain (Myh7)...
  99. pmc Developmental expression and cardiac transcriptional regulation of Myh7b, a third myosin heavy chain in the vertebrate heart
    Andrew S Warkman
    Department of Cellular and Molecular Medicine, University of Arizona Health Sciences Center, Tucson, Arizona 85724, USA
    Cytoskeleton (Hoboken) 69:324-35. 2012
    The mammalian heart expresses two myosin heavy chain (MYH) genes (Myh6 and Myh7), which are major components of the thick filaments of the sarcomere. We have determined that a third MYH, MYH7B, is also expressed in the myocardium...
  100. pmc A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies
    Nigel F Clarke
    INMR, The Children s Hospital at Westmead and Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
    Neuromuscul Disord 23:432-6. 2013
    b>MYH7 mutations are an established cause of Laing distal myopathy, myosin storage myopathy, and cardiomyopathy, as well as additional myopathy subtypes. We report a novel MYH7 mutation (p...
  101. pmc Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy
    Phillipa J Lamont
    Neurogenetic Unit, Department of Neurology, Royal Perth Hospital, Western Australia, Australia Diagnostic Genomics Laboratory, PathWest, Queen Elizabeth II Medical Centre, Nedlands, Western Australia, Australia
    Hum Mutat 35:868-79. 2014
    ..myosin storage myopathy are caused by mutations of slow skeletal/β-cardiac myosin heavy chain encoded by the gene MYH7, as is a common form of familial hypertrophic/dilated cardiomyopathy...

Research Grants41

  1. MOTOR FUNCTION OF CARDIAC B MYOSIN MUTANTS
    Mitsuo Ikebe; Fiscal Year: 1999
    ....
  2. ACTIVITY & METABOLIC CONTROL OF CARDIAC B MYOSIN
    KENNETH BALDWIN; Fiscal Year: 2001
    ..These approaches will collectively delineate the molecular mechanisms responsible for the regulation of beta MHC expression in the in vivo setting. ..
  3. DEVELOPMENTAL AGE AND CHANGES IN MYOSIN ISOZYMES
    Frank Stockdale; Fiscal Year: 1999
    ..The aim of these experiments is to determine the biological basis for innervation-dependent differentiation and identify the elements of the slow MyHC 3 gene responsive in selective activation of slow MyHC 3 by innervation. ..
  4. Molecular Epidemiology of Dilated Cardiomyopath
    Luisa Mestroni; Fiscal Year: 2005
    ..abstract_text> ..
  5. SIGNALS OF OXIDANT INDUCED CARDIOMYOCYTE HYPERTROPHY
    Qin Chen; Fiscal Year: 1999
    ..We propose to study the mechanism of oxidant stress by novel and innovative approaches. The results will contribute to the understanding of the process of heart aging and the pathogenesis of heart failure. ..
  6. PTH RELATED PROTEIN IN VASCULAR SMOOTH MUSCLE
    Thomas Clemens; Fiscal Year: 2004
    ..We will determine the consequence of cardiac-specific ablation of PTHrP and its receptor on heart development by crossing a beta-myosin heavy chain driven Cre mouse with the PTHrP and PTHrP and PTHrP-R floxed mice. ..
  7. MECHANICAL REGULATION OF CARDIAC METABOLISM
    David Simpson; Fiscal Year: 2000
    ....
  8. Genetic and Molecular Signaling in Heart Failure
    Evangelia Kranias; Fiscal Year: 2009
    ..We believe this thematically linked, multidisciplinary Center will continue to break new ground in understanding the pathogenesis and optimal management of heart failure. ..
  9. Wen Yi Chen; Fiscal Year: 2014
    ..Of these, more than 80% can be found in 7 genes, namely LMNA, MYH6, MYH7, MYPN, TNNT2, SCN5a, and MYBPC3...
  10. MANNITOL AND VIRULENCE IN CRYPTOCOCCUS NEOFORMANS
    Brian Wong; Fiscal Year: 2002
    ..Therefore, he will (i) clone and sequence the C. neoformans MPD structural gene (MPD1), (ii) construct mpd1 null mutants, and (iii) test these mutants for their abilities to synthesize and catabolize ..
  11. Multidisciplinary Study of Right Ventricular Dysplasia
    Jeffrey Towbin; Fiscal Year: 2005
    ..This integrated research grant proposal offers a substantial prospect of expanding the fund of clinical knowledge regarding ARVD and of localizing the gene(s) responsible for this disorder. ..
  12. ALTERED MECHANICAL LOADS AND SKELETAL MUSCLE PHENOTYPE
    Richard Tsika; Fiscal Year: 2009
    ..abstract_text> ..
  13. EXERCISE HYPERTROPHY AND CONTROL OF MYOSIN INDUCTION
    Richard Tsika; Fiscal Year: 2008
    ..abstract_text> ..
  14. Structure and Function of Myosin VI
    HUGH SWEENEY; Fiscal Year: 2006
    ..determine which kinetic and structural features are necessary for processive movement and the large step size of myosin VI; and 3) delineate putative modes of regulation of the myosin VI motor. ..
  15. Inherited myosin mutations that cause heart disease
    Todd Herron; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  16. Cardiac Hypertrophy Due to Oxidative Stress Insulin
    Thunder Jalili; Fiscal Year: 2006
    ..unreadable] [unreadable] [unreadable]..
  17. Steroid As Cytoprotectants against Oxidative Toxicity
    Qin Chen; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  18. Alcohol-Induced Regulation of Hepatic Protein Synthesis
    THOMAS VARY; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  19. Understanding and Preventing Disuse Atrophy
    HUGH SWEENEY; Fiscal Year: 2007
    ..abstract_text> ..
  20. Proteoglycan degradation and functional recovery after peripheral nerve injury
    ARTHUR ENGLISH; Fiscal Year: 2007
    ..This proposal seeks to evaluate a technology for medical treatment of peripheral nerve injuries which, if successful, could have an important impact on a relatively large group of under-treated patients. [unreadable] [unreadable]..
  21. Role of Acetaldehyde in Alcoholic Cardiomyopathy
    Jun Ren; Fiscal Year: 2008
    ..Our long-term goal is to establish the toxic mechanism of acetaldehyde in the development of alcoholic cardiomyopathy so that prevention and treatment can be optimized [unreadable] [unreadable]..
  22. IN VIVO STUDIES OF TROPONIN T FUNCTION
    HUGH SWEENEY; Fiscal Year: 2002
    ..Our findings will provide fundamental knowledge of the mechanisms of muscle contraction and a basis for development of gene and drug therapies for the treatment of HCM. ..
  23. Mechanisms of myopathy caused by mutations in the myosin rod
    LESLIE ANNE LEINWAND; Fiscal Year: 2010
    ..Relevance to public health: Genetic heart disease is an important health problem and this specific type of heart disease we study is the leading cause of sudden death in young people. ..
  24. Translational Control of Oxidative Stress in Myocardial Infarction
    Qin M Chen; Fiscal Year: 2010
    ..PUBLIC HEALTH RELEVANCE: This grant proposes to study the mechanism of Nrf2 protein translation in cardiomyocytes and in the myocardium following oxidative stress. ..
  25. MYOSIN ISOZYMES
    HUGH LEE SWEENEY; Fiscal Year: 2010
    ....
  26. Conference on Molecular Biology of the Heart
    Leslie Leinwand; Fiscal Year: 2002
    ..It will be a multidisciplinary meeting that should bring together people who are beginning to have regular dialogues but whose traditions have been somewhat separate. ..
  27. Developmental Myosin Heavy Chain Regulation and Function
    Leslie Leinwand; Fiscal Year: 2006
    ..Specifically, we will test the hypothesis that embryonic MyHC contractile function is necessary for muscle development. These studies will define the role of the developmental MyHC isoforms in skeletal muscle form and function. ..
  28. Cross Talk in Retinoid Teratology in Neural Crest
    Melissa Colbert; Fiscal Year: 2003
    ....
  29. Muscle: Contractile Proteins GRC 2005
    HUGH SWEENEY; Fiscal Year: 2005
    ..This will be a transitional conference in that the overall focus of the conference will be divided between the Molecular Basis of Muscle Contraction and the broader topic of the Design and Function of Molecular Motors. ..
  30. Hereditary spastic paraplegia linked to chromosomes 8q
    Peter Hedera; Fiscal Year: 2006
    ..I will characterize the phenotype of transgenic animals. The study of a transgenic animal model will further enhance current state of knowledge about the pathophysiology of HSP and axonal degeneration. ..
  31. Zic3 and the Control of Body Pattern Formation
    STEPHANIE WARE; Fiscal Year: 2005
    ..Through a combination of supervised research, scientific interchange, and selected coursework within this environment, the candidate will obtain the training necessary to transition to an independent investigator. ..
  32. Proteome Mapping of Heart Failure in Aging
    MARVIN BOLUYT; Fiscal Year: 2005
    ..Identification of proteins involved in aldosterone signaling will lead to the development of new hypotheses for future grant proposals addressing their roles in the development of heart failure in the elderly. ..
  33. MECHANISMS OF CARDIOVASCULAR DISEASE AND GENE THERAPY
    Leslie Leinwand; Fiscal Year: 2005
    ..In addition, we have established a formal link with the MD-PhD) program in Denver that allows those students to do their thesis work in Boulder. This training grant can facilitate those ventures. ..
  34. BIOENGINEERING RESEARCH PARTNERSHIP--MUSCULAR DYSTROPHY
    HUGH SWEENEY; Fiscal Year: 2004
    ..Lee Sweeney, Ph.D.); and Section 3: development of non-invasive methods for monitoring therapeutic benefits of dystrophin gene transfer (directed by Glenn Walter, Ph.D.). ..
  35. DENVER CARDIOVASCULAR HEALTH EDUCATION ALLIANCE, PHASE I
    Leslie Leinwand; Fiscal Year: 2004
    ..abstract_text> ..
  36. MOLECULAR MECHANISMS OF OXIDANT TOXICITY
    Qin Chen; Fiscal Year: 2004
    ..We have a unique finding of premature senescence with oxidative stress and will combine in vitro and in vivo approaches to uncover the trigger of unwanted effects of aging. ..
  37. REGULATION OF MASTICATORY MUSCLE FIBER PHENOTYPE
    ARTHUR ENGLISH; Fiscal Year: 2002
    ..The new knowledge generated will impact significantly several areas of clinical dentistry. ..
  38. IGF-1, Oxidative Stress and Cardiovascular Aging
    Jun Ren; Fiscal Year: 2002
    ..Our long-term goal is to establish the causal link among IGF-1 deficiency, enhanced oxidative damage and ventricular dysfunction in the progression of cardiovascular aging so that hormonal or antioxidant therapy can be optimized...
  39. TRAINING IN MUSCLE BIOLOGY
    HUGH SWEENEY; Fiscal Year: 2003
    ..This is evidenced by the many prominent scientists around the world, who have trained in this field at the University of Pennsylvania. ..