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Genomes and Genes
| MYH7SummaryGene Symbol: MYH7 Description: myosin, heavy chain 7, cardiac muscle, beta Alias: CMD1S, CMH1, MPD1, MYHCB, SPMD, SPMM, beta-myosin heavy chain, myHC-beta, myhc-slow, myopathy, distal 1, myosin heavy chain (AA 1-96), myosin heavy chain 7, myosin heavy chain slow isoform, myosin heavy chain, cardiac muscle beta isoform, myosin, heavy polypeptide 7, cardiac muscle, beta, myosin-7, rhabdomyosarcoma antigen MU-RMS-40.7A Species: human Top Publications
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Publications
Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain geneEric 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...
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 miceSeverine 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...
Activation of the beta myosin heavy chain promoter by MEF-2D, MyoD, p300, and the calcineurin/NFATc1 pathwayJoachim 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...
Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathyAndreas 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...
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategyPascale 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...
Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain geneM 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...
Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathyH 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...
Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathyR 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...
Mutation in myosin heavy chain 6 causes atrial septal defectYung 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...
Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge complianceB 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...
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathyH 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...
The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder eventsJ 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...
The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its productT 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...
Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophyMiriam 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...
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 atriumM 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...
Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathyI 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..cardiomyopathy kindreds, the disease is caused by > 29 missense mutations in the cardiac beta-myosin heavy chain (MYH7) gene...
[Demonstration of a fifth locus implicated in familial hypertrophic cardiomyopathies]C Hengstenberg
INSERM U153, , Paris
Arch Mal Coeur Vaiss 87:1655-62. 1994..The first morbid gene implicated in the disease was the gene coding the beta myosin heavy chain (beta MHC) on chromosome 14. However, only 30% of families have this genetic abnormality...
The influence of dietary salt and plasma renin activity on myosin heavy chain gene expression in rat heartsP Buttrick
Montefiore Medical Center, Bronx, NY 10467
Am J Hypertens 6:579-85. 1993..Heart weight and heart/body weight ratios were increased only in animals with Htn. The ratio of alpha/beta myosin heavy chain (MHC) mRNA was significantly decreased with Htn...
Activity of the beta-myosin heavy chain antisense promoter responds to diabetes and hypothyroidismJulia 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...
Cardiac myosin binding protein-C phosphorylation in a {beta}-myosin heavy chain backgroundSakthivel Sadayappan
Department of Pediatrics, Cincinnati Children s Hospital Medical Center, Ohio, USA
Circulation 119:1253-62. 2009..We determined the effect(s) of cMyBP-C phosphorylation in a beta-MyHC transgenic mouse heart in which >80% of the alpha-MyHC was replaced by beta-MyHC, which is the predominant myosin isoform in human cardiac muscle...
Role of antisense RNA in coordinating cardiac myosin heavy chain gene switchingFadia Haddad
Department of Physiology and Biophysics, University of California, Irvine, California 92697 4560, USA
J Biol Chem 278:37132-8. 2003A novel mechanism of regulation of cardiac alpha and beta myosin heavy chain gene by naturally occurring antisense transcription was elucidated via pre-mRNA analysis...
Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patientsMonica 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. 2003Mutations 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)...
Mutation of Arg723Gly in beta-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathyJun 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...
Simvastatin induces regression of cardiac hypertrophy and fibrosis and improves cardiac function in a transgenic rabbit model of human hypertrophic cardiomyopathyR 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...
Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosisA Woo
Division of Cardiology, Toronto General Hospital, University Health Network, University of Toronto, Toronto, Ontario, Canada
Heart 89:1179-85. 2003To assess patients with different types of mutations of the beta myosin heavy chain (beta MHC) gene causing hypertrophic cardiomyopathy (HCM) and to determine the prognosis of patients according to the affected functional domain of beta ..
Role of mitogen-activated protein kinase pathway in reactive oxygen species-mediated endothelin-1-induced beta-myosin heavy chain gene expression and cardiomyocyte hypertrophyTzu 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...
The effect of isoproterenol on phospholamban-deficient mouse hearts with altered thyroid conditionsA G Brittsan
Departments of Pharmacology and Cell Biophysics, University of Cincinnati College of Medicine, Cincinnati, OH 45267 0575, USA
J Mol Cell Cardiol 31:1725-37. 1999..These findings suggest that phospholamban is an important regulator of the heart's responses to beta -adrenergic stimulation under various thyroid states...
Role of myocyte-specific enhancer-binding factor (MEF-2) in transcriptional regulation of the alpha-cardiac myosin heavy chain geneE 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...
Heavy long-term ethanol consumption induces an alpha- to beta-myosin heavy chain isoform transition in ratJ 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...
Impact of beta-myosin heavy chain isoform expression on cross-bridge cycling kineticsVeronica 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...
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 genesTuija 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...
Functional effects of the hypertrophic cardiomyopathy R403Q mutation are different in an alpha- or beta-myosin heavy chain backboneSusan 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...
Different phenotypes among slow/beta myosin heavy chain-containing fibres of rabbit masseter muscle: a novel type of diversity in adult muscleA 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...
Simultaneous quantification of human cardiac alpha- and beta-myosin heavy chain proteins by MALDI-TOF mass spectrometrySteve 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...
Increased beta-myosin heavy chain in acute cellular rejection following human heart transplantationMohamad 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...
Dissociation of left ventricular hypertrophy, beta-myosin heavy chain gene expression, and myosin isoform switch in rats after ascending aortic stenosisR 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...
Long-term alcohol administration inhibits synthesis of both myofibrillar and sarcoplasmic proteins in heartThomas 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...
The CAAT-binding transcription factor 1/nuclear factor 1 binding site is important in beta-myosin heavy chain antisense promoter regulation in ratsJulia 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...
Human homozygous R403W mutant cardiac myosin presents disproportionate enhancement of mechanical and enzymatic propertiesDagmar 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...
Analysis of myosin heavy chain functionality in the heartMaike 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...
Localization of the binding site of the C-terminal domain of cardiac myosin-binding protein-C on the myosin rodEmily Flashman
Department of Cardiovascular Medicine, University of Oxford, Wellcome Trust Centre of Human Genetics, Oxford OX3 7BN, UK
Biochem J 401:97-102. 2007..We investigated this interaction in detail to determine whether HCM mutations in beta myosin heavy chain located within the LMM portion alter the binding of cMyBP-C, and to define the precise region of LMM that ..
Effects of cardiac myosin isoform variation on myofilament function and crossbridge kinetics in transgenic rabbitsTakeki 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...
A MyoD1-independent muscle-specific enhancer controls the expression of the beta-myosin heavy chain gene in skeletal and cardiac muscle cellsW 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...
Myopathies associated with myosin heavy chain mutationsA 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)...
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 proteinC Redwood
Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
Circ Res 86:1146-52. 2000..cardiomyopathy (HCM) is caused by mutations in at least 8 contractile protein genes, most commonly beta myosin heavy chain, myosin binding protein C, and cardiac troponin T...
Tissue Doppler imaging consistently detects myocardial contraction and relaxation abnormalities, irrespective of cardiac hypertrophy, in a transgenic rabbit model of human hypertrophic cardiomyopathyS F Nagueh
Section of Cardiology, Department of Medicine, Baylor College of Medicine, Houston, Texas, USA
Circulation 102:1346-50. 2000....
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 cardiomyopathyCrystal M Ripplinger
Department of Biomedical Engineering, Washington University, St Louis, MO 63130, USA
Circ Res 101:1049-57. 2007....
[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....
Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutationsFrancesca 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...
Subclinical skeletal muscle abnormalities in patients with hypertrophic cardiomyopathy and their relation to clinical characteristicsAris Anastasakis
Department of Cardiology, University of Athens, Hippokration Hospital, Athens, Greece
Int J Cardiol 89:249-56. 2003....
The molecular genetic basis for hypertrophic cardiomyopathyA 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...
Cocaine produces cardiac hypertrophy by protein kinase C dependent mechanismsRobert 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...
Atrial natriuretic factor and brain natriuretic peptide gene expression in the spontaneous hypertensive rat during postnatal developmentM 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...
Altered cardiac hormone and contractile protein messenger RNA levels following left ventricular myocardial infarction in the rat: an in situ hybridization histochemical studyR 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...
Cocaine activates calcium/calmodulin kinase II and causes cardiomyocyte hypertrophyRobert 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...
[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...
[Genetics of hereditary cardiopathies]S Debrus
CRBM, CNRS UPR 9008 et INSERM U249, Montpellier
Arch Mal Coeur Vaiss 89:619-27. 1996Hypertrophic cardiomyopathy may be secondary to a mutation in the cardiac beta myosin heavy chain (14q11-q12), alpha tropomyosin (15q22), troponin T (1q32), protein C gene (11p11-q13) or in a non yet mapped gene...
Insights into human beta-cardiac myosin function from single molecule and single cell studiesSivaraj 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)...
Combined effects of ramipril and angiotensin II receptor blocker TCV116 on rat congestive heart failure after myocardial infarctionZe 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)...
Increased protein kinase C activity in myotrophin-induced myocyte growthP 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...
Novel cell lines derived from adult human ventricular cardiomyocytesMercy 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...
[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...
Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophyTaranjit 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...
Expression of proto-oncogenes and gene mutation of sarcomeric proteins in patients with hypertrophic cardiomyopathyH 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...
Evidence of MyomiR network regulation of beta-myosin heavy chain gene expression during skeletal muscle atrophyJohn 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...
Reduced inotropic reserve and increased susceptibility to cardiac ischemia/reperfusion injury in phosphocreatine-deficient guanidinoacetate-N-methyltransferase-knockout miceMichiel 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...
Gender differences in molecular remodeling in pressure overload hypertrophyE 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...
The antioxidant tempol inhibits cardiac hypertrophy in the insulin-resistant GLUT4-deficient mouse in vivoR 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...
Ral GDP dissociation stimulator and Ral GTPase are involved in myocardial hypertrophyMiki 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...
Rescuing the N-cadherin knockout by cardiac-specific expression of N- or E-cadherinY 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....
Terminal differentiation of Sol 8 myoblasts is retarded by a transforming growth factor-beta autocrine regulatory loopSeverine Allegra
UMR 369 INSERM UCBL and IFR 62 Laënnec, Faculte de Medecine, R T H Laennec, 7 rue G Paradin, 69372 Lyon, Cedex 08, France
Biochem J 381:429-36. 2004..To conclude, TGFbeta inhibits Sol 8 cell terminal differentiation within a narrow time interval (24-34 h) that coincides with the onset of betaMHC expression...
Crystal structure of silkworm Bombyx mori JHBP in complex with 2-methyl-2,4-pentanediol: plasticity of JH-binding pocket and ligand-induced conformational change of the second cavity in JHBPZui Fujimoto
Biomolecular Research Unit, National Institute of Agrobiological Sciences, Tsukuba, Ibaraki, Japan
PLoS ONE 8:e56261. 2013..of the silkworm Bombyx mori JHBP in complex with two molecules of 2-methyl-2,4-pentanediol (MPD), one molecule (MPD1) bound in the JH-binding pocket while the other (MPD2) in a second cavity...
Determination of deployment specific chemical uptake rates for SPMD and PDMS using a passive flow monitorDominique O'Brien
The University of Queensland, National Research Centre for Environmental Toxicology EnTox, 39 Kessels Rd, Coopers Plains, QLD 4108, Australia
Mar Pollut Bull 64:1005-11. 2012..the passive flow monitor (PFM) can be applied to predict changes in R(s) dependent on flow when using the absorbent SPMD (semipermeable membrane device) and PDMS (polydimethyl siloxan) passive samplers...
Distribution of histone3 lysine 4 trimethylation at T3-responsive loci in the heart during reversible changes in gene expressionKumar Pandya
Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599 7525, USA
Gene Expr 15:183-98. 2012..modifications are induced primarily at 5' transcribed region in parallel with increased expression of beta myosin heavy chain (MHC)...
Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathyHaruna Otsuka
Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University, Japan
Circ J 76:453-61. 2012..Although there are several reports on the systematic screening of mutations in the disease-causing genes in European and American populations, only limited information is available for Asian populations, including Japanese...
[Desorption of polycyclic aromatic hydrocarbons in soils assisted by SPMD]Hong Wen Sun
College of Environmental Science and Engineering, Nankai University, Tianjin 300071, China
Huan Jing Ke Xue 28:1841-6. 2007..bioavailability of hydrophobic organic chemicals (HOCs) in soils, a method using semi-permeable membrane device (SPMD) to study desorption of HOCs in soils has been set up, and assisted desorption of polycyclic aromatic hydrocarbons (..
[Genetic heterogeneity of myosin heavy chain 7 gene G823E mutation in familial hypertrophic cardiomyopathy in Chinese]Hu Wang
Sino German Laboratory for Molecular Medicine, Fuwai Cardiovascular Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100037, China
Zhonghua Yi Xue Za Zhi 88:3120-2. 2008..To study the disease-causing gene mutations in familial hypertrophic cardiomyopathy (HCM) in Chinese and to reveal the relationship between the genotype and the phenotype...
Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathyJ C Moolman
University of Stellenbosch, Department of Medical Physiology and Biochemistry, Tygerberg, South Africa
Hum Mol Genet 2:1731-2. 1993
A missense mutation of cardiac beta-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese familiesH Harada
Third Department of Internal Medicine, Kurume University, School of Medicine, Japan
Biochem Biophys Res Commun 194:791-8. 1993..These observations strongly suggest that the 778Asp to Gly mutation is the cause of HCM in these affected individuals...
Application of semipermeable membrane device (SPMD) to assess air genotoxicity in an occupational environmentSa Bonetta
Department of Environmental and Life Sciences, University of Piemonte Orientale A Avogadro, Via Bellini 25 G, 15100 Alessandria, Italy
Chemosphere 75:1446-52. 2009Semipermeable membrane device (SPMD) is a passive sampler that sequesters lipophilic contaminants, mimicking the bioconcentration in the fatty tissue of organisms...
Familial hypertrophic cardiomyopathy: a paradigm of the cardiac hypertrophic response to injuryA J Marian
Department of Medicine, Baylor College of Medicine, Houston, TX 77030, USA
Ann Med 30:24-32. 1998....
A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathyJuan Wang
Department of Cardiovascular Medicine, East Hospital, Tongji University, Shanghai, China
Clin Cardiol 32:E16-21. 2009..The genetic etiology responsible for HCM in many individuals remains unclear...
Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathyG Cuda
Laboratory of Molecular Cardiology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892
J Clin Invest 91:2861-5. 1993..Thus, single amino acid changes in beta-myosin result in abnormal actomyosin interactions, confirming the primary role of missense mutations in beta-MHC gene in the etiology of hypertrophic cardiomyopathy...
Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutationN D Epstein
Clinical Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892
Circulation 86:345-52. 1992..We describe extensive clinical evaluations in two kindreds with two distinct point mutations in the beta-MHC gene...
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 failureY L Ko
Department of Internal Medicine, National Taiwan University Hospital, Taipei, Republic of China
Hum Genet 97:585-90. 1996..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...
Cardiac myosin isoforms from different species have unique enzymatic and mechanical propertiesUlf P Malmqvist
Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, Vermont 05405 0068, USA
Biochemistry 43:15058-65. 2004..Thus, nature has adapted the function of cardiac myosin isoforms to optimize power output for hearts of a given species...
Field uptake rates of hydrophobic organic contaminants by semipermeable membrane devices: environmental monitoring considerationsJuan C Sanchez-Hernandez
Laboratory of Ecotoxicology, Department of Environmental Science, University of Castilla La Mancha, 45071, Toledo, Spain
J Environ Monit 6:919-25. 2004..Concentrations of HCHs (80.3 ng g(-1) SPMD for alpha-HCH and 109 ng g(-1) SPMD for gamma-HCH after 20 d of exposure) increased according to a linear uptake ..
Transgenic Galphaq overexpression induces cardiac contractile failure in miceD D D'Angelo
University of Cincinnati, 231 Bethesda Avenue, Cincinnati, OH 45267 0542, USA
Proc Natl Acad Sci U S A 94:8121-6. 1997..The Galphaq overexpressor exhibits a biochemical and physiologic phenotype resembling both the compensated and decompensated phases of human cardiac hypertrophy and suggests a common mechanism for their pathogenesis...
Pesticide sequestration in passive samplers (SPMDs): considerations for deployment time, biofouling, and stream flow in a tropical watershedBeth A Polidoro
Department of Biology, Old Dominion University, Norfolk, Virginia, USA
J Environ Monit 11:1866-74. 2009..At all three sites, SPMD concentrations of the widely used insecticide chlorpyrifos increased with deployment time, with no relationship ..
Implications of hypertrophic cardiomyopathy transmitted by sperm donationBarry J Maron
Hypertrophic Cardiomyopathy Center, Minneapolis Heart Institute Foundation and Abbott Northwestern Hospital, Minneapolis, Minnesota 55407, USA
JAMA 302:1681-4. 2009..The unintended consequence in which genetic diseases are unwittingly transmitted to offspring is an underrecognized public health issue not previously prioritized by US Food and Drug Administration guidelines...
Effect of cardiac resynchronization therapy on myocardial gene expression in patients with nonischemic dilated cardiomyopathySrinivas Iyengar
Division of Cardiovascular Medicine and the Department of Internal Medicine, The Ohio State University, Columbus, Ohio 43210 1252, USA
J Card Fail 13:304-11. 2007....
Polycyclic aromatic hydrocarbon sampling in wastewaters using semipermeable membrane devices: accuracy of time-weighted average concentration estimations of truly dissolved compoundsCatherine Gourlay-Francé
Cemagref, Unité de Recherche Hydrosystèmes et Bioprocédés, Parc de Tourvoie, BP 44, 92163 Antony cedex, France
Chemosphere 73:1194-200. 2008..Exchange rate constants and time-weighted average (TWA) concentrations of SPMD-available PAHs in water were calculated...
[Family hypertrophic cardiomyopathy caused by a 14035c > t mutation in cardiac troponin T gene]Shu xia Wang
Sino German Laboratory for Molecular Medicine, FuWai Cardiovascular Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences, Beijing 100037, China
Zhonghua Yi Xue Za Zhi 87:371-4. 2007..To study the disease-causing gene mutation in Chinese patients with familial hypertrophic cardiomyopathy (FHC) and to analyze the correlation between the genotype and the phenotype...
Concentration of organochlorine pollutants in surface waters of the central European biosphere reserve KrivoklatskoVladimir Koci
Department of Environmental Chemistry, ICT Prague, Technicka 5, 166 28 Prague 6, Czech Republic
Environ Sci Pollut Res Int 14:94-101. 2007..This work publishes data of the contamination with organochlorine pollutants of this natural region, where biodiversity and ecological functions are of the highest order...
The acute phase protein alpha2-macroglobulin induces rat ventricular cardiomyocyte hypertrophy via ERK1,2 and PI3-kinase/Akt pathwaysManju Padmasekar
Department of Physiology, Justus Liebig University Giessen, Aulweg 129, 35392 Giessen, Germany
Cardiovasc Res 75:118-28. 2007....
Cardiac beta-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathiesYvonne M Hoedemaekers
Department of Clinical Genetics, Erasmus Medical Centre, Dr Molewaterplein 50, 3015GE Rotterdam, The Netherlands
Eur Heart J 28:2732-7. 2007..NCCM families, the identification of mutations in the sarcomeric cardiac beta-myosin heavy chain gene (MYH7), known to be associated with hypertrophic cardiomyopathy (HCM), restricted cardiomyopathy (RCM), and dilated ..
Calcium-independent negative inotropy by beta-myosin heavy chain gene transfer in cardiac myocytesTodd J Herron
Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI 48109 0622, USA
Circ Res 100:1182-90. 2007..We conclude that beta-MyHC is a negative inotrope among the cardiac myofilament proteins...
Myozenin 2 is a novel gene for human hypertrophic cardiomyopathyAdriana Osio
Center for Cardiovascular Genetic Research, The Brown Foundation Institute of Molecular Medicine, University of Texas Health Sciences Center, Houston, TX 77030, USA
Circ Res 100:766-8. 2007..We excluded MYH7, MYBPC3, TNNT2, and ACTC1 as the causal gene either by direct sequencing or by haplotype analysis...
Construction of a human ventricular cDNA library and characterization of a beta myosin heavy chain cDNA cloneM A Jandreski
Hum Genet 76:47-53. 1987..Similar results were obtained when pHMC3 was compared to the rat cardiac myosin heavy chain cDNA sequences. The comparisons showed that pHMC3 is a beta cardiac myosin heavy chain cDNA clone...
Behaviour of semipermeable membrane devices in neutral pesticide uptake from watersFrancesc A Esteve Turrillas
Analytical Chemistry Department, University of Valencia, Edifici Jeroni Muñoz, 50 Dr Moliner, 46100, Burjassot, Valencia, Spain
Anal Bioanal Chem 387:2153-62. 2007..A SPMD was put in the beaker, under turbulent conditions, and analysed after 2 days' extraction...
Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain geneBirgit S Budde
Cologne Center for Genomics and Institute for Genetics, University of Cologne, Cologne, Germany
PLoS ONE 2:e1362. 2007..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 ..
Research Grants
- Cardiac Channel Mutations in Sudden Infant Death Syndrome (SIDS)Michael Ackerman; Fiscal Year: 2007....
- Cooperative Regulation of Cardiac MHC Genes.KENNETH BALDWIN; Fiscal Year: 2006In preliminary studies we made the novel observation that the expression of the beta myosin heavy chain (MHC) gene is likely under the control of two promoters: 1) a 5'beta promoter (5 'beta) that transcribes pre-mRNA in the sense ..
- ACTIVITY & METABOLIC CONTROL OF CARDIAC B MYOSINKENNETH BALDWIN; Fiscal Year: 2001..pressure overload, and diabetes are capable of up regulating, to varying degrees, the expression of the beta myosin heavy chain (MHC) gene in the rodent heat...
- Molecular Epidemiology of Dilated CardiomyopathLuisa Mestroni; Fiscal Year: 2005..abstract_text> ..
- PTH RELATED PROTEIN IN VASCULAR SMOOTH MUSCLEThomas Clemens; Fiscal Year: 2003..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. ..
- PTH RELATED PROTEIN IN VASCULAR SMOOTH MUSCLEThomas 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. ..
- EXERCISE HYPERTROPHY AND CONTROL OF MYOSIN INDUCTIONRichard Tsika; Fiscal Year: 2001..determining the DNA regulatory element(s) and nuclear protein factor(s) which transcriptionally induce beta myosin heavy chain expression in mechanical overloaded plantaris muscle and to test their possible role in fiber specific ..
- MANNITOL AND VIRULENCE IN CRYPTOCOCCUS NEOFORMANSBrian 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 ..
- Cardiac Channel Mutations in Sudden Infant Death Syndrome (SIDS)MICHAEL JOHN ACKERMAN; Fiscal Year: 2010....
- ALTERED MECHANICAL LOADS AND SKELETAL MUSCLE PHENOTYPERichard Tsika; Fiscal Year: 2009..abstract_text> ..
- EXERCISE HYPERTROPHY AND CONTROL OF MYOSIN INDUCTIONRichard Tsika; Fiscal Year: 2007..abstract_text> ..
- Cardiac Channel Mutations in SIDSMichael Ackerman; Fiscal Year: 2005..Such a discovery could have significant implications on attempts to further reduce the incidence of SIDS in our country and throughout the world. ..
- Familial Dilated Cardiomyopathy: Detection/Gene MappingRay Hershberger; Fiscal Year: 2006..We further propose to (2) map the genes responsible for FDC in several FDC pedigrees, of which linkage and additional gene mapping studies are in progress. ..
- Familial Dilated Cardiomyopathy: Detection/Gene MappingRay Hershberger; Fiscal Year: 2009..We aim to identify more of the disease genes, which will lead to greater understanding of the causes of human heart failure. ..
- Familial Dilated Cardiomyopathy: Detection/Gene MappingRay E Hershberger; Fiscal Year: 2010..We aim to identify more of the disease genes, which will lead to greater understanding of the causes of human heart failure. ..
