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Myosin, heavy chain 7, cardiac muscle, beta

MYH7
Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: cTnT, HAD, AGE, CAN, ACID
Papers on MYH7
Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy.
New
Jongbloed et al., Groningen, Netherlands. In Eur Heart J, 21 Sep 2014
In addition, we identified 6 variants of unknown clinical significance that may be pathogenic in 6 other families (33%): 4 in TTN, 1 in TNNC1, and 1 in MYH7.
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
New
Laing et al., Perth, Australia. In Hum Mutat, Jul 2014
Laing early onset distal myopathy and 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.
LC MS/MS identification of large structural proteins from bull muscle and their degradation products during post mortem storage.
New
Farouk et al., Hamilton, New Zealand. In Food Chem, Jun 2014
Myosin heavy chain 1 (MYH1), myosin heavy chain 2 (MYH2), and myosin heavy chain 7 (MYH7) were distributed broadly across the bands in the forms of cross-linked/aggregated polymers, and also as fragments.
The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy.
New
Yan et al., Hangzhou, China. In J Med Genet, Mar 2014
Nuclear gene screening (MYH7, MYBPC3, TNNT2 and TNNI3) was performed, and no potential pathogenic mutation was identified.
A systematic review and meta-analysis of genotype-phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations.
Review
New
Elliott et al., London, United Kingdom. In Heart, Dec 2013
There were no differences when the two most frequently affected genes, MYBPC3 and MYH7, were compared.
Park7 expression influences myotube size and myosin expression in muscle.
New
Bidwell et al., West Lafayette, United States. In Plos One, Dec 2013
IGF1 treatment increased the mRNA abundance of Myh4, Myh7 and Myh8 between 20-40% in Park7 (+/+) myotubes relative to Park7 (-/-).
Genetic testing in the management of relatives of patients with hypertrophic cardiomyopathy.
New
Veselka et al., Praha, Czech Republic. In Folia Biol (praha), Dec 2013
We tested a cohort of 99 unrelated patients with HCM for mutations in MYH7, MYBPC3, TNNI3 and TNNT2 genes.
Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7.
Review
New
Keavney et al., Amsterdam, Netherlands. In Am J Med Genet C Semin Med Genet, Aug 2013
Recent studies identified mutations in the MYH7 gene, encoding the sarcomeric β-myosin heavy chain protein, in patients harboring this specific phenotype.
Ebstein's anomaly.
New
Mitu et al., Jászvásár, Romania. In Rev Med Chir Soc Med Nat Iasi, Jul 2013
The genetic changes underlying this syndrome are not fully known, but in the cases associating left ventricular nonompaction a mutation in MYH7 gene encoding the beta-myosin heavy chain was recently detected.
Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells.
New
Impact
Wu et al., Stanford, United States. In Cell Stem Cell, Feb 2013
To elucidate the mechanisms underlying HCM development, we generated patient-specific induced pluripotent stem cell cardiomyocytes (iPSC-CMs) from a ten-member family cohort carrying a hereditary HCM missense mutation (Arg663His) in the MYH7 gene.
Genetic mutations and mechanisms in dilated cardiomyopathy.
Review
New
Puckelwartz et al., Chicago, United States. In J Clin Invest, Feb 2013
Mutations in the genes encoding the thick filament components myosin heavy chain and myosin binding protein C (MYH7 and MYBPC3) together explain 75% of inherited HCMs, leading to the observation that HCM is a disease of the sarcomere.
Myosinopathies: pathology and mechanisms.
Review
Oldfors et al., Göteborg, Sweden. In Acta Neuropathol, 2013
Myopathies with scapuloperoneal, distal or limb-girdle muscle weakness including entities, such as myosin storage myopathy and Laing distal myopathy are the result of usually dominant mutations in the gene for slow/β cardiac MyHC (MYH7).
New phenotype and pathology features in MYH7-related distal myopathy.
GeneRIF
Udd et al., Italy. In Neuromuscul Disord, 2012
This study suggested that MYH7 mutation is related distal myopathy.
Mechanisms of disease: hypertrophic cardiomyopathy.
Review
Katus et al., Kiel, Germany. In Nat Rev Cardiol, 2012
Interestingly, most of these genes encode sarcomeric proteins, such as myosin-7 (also known as cardiac muscle β-myosin heavy chain; MYH7), cardiac myosin-binding protein C (MYBPC3), and cardiac muscle troponin T (TNNT2).
A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India.
GeneRIF
Narasimhan et al., Hyderābād, India. In Mol Cell Biochem, 2012
Four novel mutations in MYBPC3 and one in MYH7 were identified among familial hypertrophic cardiomyopathy patients in India
Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy.
GeneRIF
Kraft et al., Hannover, Germany. In Basic Res Cardiol, 2011
mutation-specific allelic imbalance in the beta-myosin heavy chain represents a new pathogenic factor for Familial hypertrophic cardiomyopathy.
β-myosin heavy chain is induced by pressure overload in a minor subpopulation of smaller mouse cardiac myocytes.
GeneRIF
Simpson et al., San Francisco, United States. In Circ Res, 2011
After transverse aortic constriction hypertrophied myocytes contain no beta-myosin heavy chain (betaMyHC), only alpha-MyHC, identifying a new subpopulation of smaller working ventricular myocytes with more myosin.
[Mutation analysis of beta myosin heavy chain gene in hypertrophic cardiomyopathy families].
GeneRIF
Liang et al., Beijing, China. In Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2011
gene mutations of beta-myosin heavy chain gene (MYH7) in Chinese pedigrees with hypertrophic cardiomyopathy
Chromatin regulation by Brg1 underlies heart muscle development and disease.
Impact
Chang et al., Stanford, United States. In Nature, 2010
Adult cardiomyocytes in mice primarily express alpha-myosin heavy chain (alpha-MHC, also known as Myh6), whereas embryonic cardiomyocytes express beta-MHC (also known as Myh7).
Shared genetic causes of cardiac hypertrophy in children and adults.
Impact
Seidman et al., Boston, United States. In N Engl J Med, 2008
We sequenced eight genes: MYH7, MYBPC3, TNNT2, TNNI3, TPM1, MYL3, MYL2, and ACTC.
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