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    MYH7 myosin heavy chain 7 [ Homo sapiens (human) ]

    Gene ID: 4625, updated on 22-Apr-2017

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    MYBPC3 and MYH7 were the most common mutated genes, accounting for 27% of the total Hypertrophic Cardiomyopathy patients and 83% of the putative mutations in the main sarcomeric genes.

    Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients.
    Jaafar N, Gómez J, Kammoun I, Zairi I, Amara WB, Kachboura S, Kraiem S, Hammami M, Iglesias S, Alonso B, Coto E.

    MYH7 gene mutation is associated with Early-Onset Hypertrophic Cardiomyopathy.

    A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
    Rubattu S, Bozzao C, Pennacchini E, Pagannone E, Musumeci BM, Piane M, Germani A, Savio C, Francia P, Volpe M, Autore C, Chessa L., Free PMC Article

    family members who carried both the MYH7-A719H and MYOZ2-L169G mutations had more severe symptoms of hypertrophic cardiomyopathy, including sudden cardiac death, than those with only the MYH7 mutation

    Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations.
    Guo X, Fan C, Wang Y, Wang M, Cai C, Yang Y, Zhao S, Duan F, Li Y., Free PMC Article

    Chinese family with dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 mutations.

    Dual LQT1 and HCM phenotypes associated with tetrad heterozygous mutations in KCNQ1, MYH7, MYLK2, and TMEM70 genes in a three-generation Chinese family.
    Wang L, Zuo L, Hu J, Shao H, Lei C, Qi W, Liu Y, Miao Y, Ma X, Huang CL, Wang B, Zhou X, Zhang Y, Liu L.

    A novel heterozygous mutation (MYH7, p.Asn885Thr), and a variant of uncertain significance (TNNT2, p.Arg296His) were identified in 2 patients with familial hypertrophic cardiomyopathy.

    Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system.
    Zhao Y, Cao H, Song Y, Feng Y, Ding X, Pang M, Zhang Y, Zhang H, Ding J, Xia X., Free PMC Article

    Multidimensional structure-function relationships in human beta-cardiac myosin from population-scale genetic variation.

    Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.
    Homburger JR, Green EM, Caleshu C, Sunitha MS, Taylor RE, Ruppel KM, Metpally RP, Colan SD, Michels M, Day SM, Olivotto I, Bustamante CD, Dewey FE, Ho CY, Spudich JA, Ashley EA., Free PMC Article

    BNP, but not mutations in MYH7 may have a role in sudden cardiac death in children with hypertrophic cardiomyopathy

    The association between brain natriuretic peptide and tissue Doppler parameters in children with hypertrophic cardiomyopathy.
    Öner T, Özdemir R, Hazan F, Karadeniz C, Doksoz Ö, Yilmazer MM, Meşe T, Tavli V., Free PMC Article

    5 out of 102 (4.9%) athletes carried mutations: a heterozygous MYH7 Glu935Lys mutation, a heterozygous MYBPC3 Arg160Trp mutation and another heterozygous MYBPC3 Thr1046Met mutation, all of which had been reported as HCM-associated mutations

    Screening of sarcomere gene mutations in young athletes with abnormal findings in electrocardiography: identification of a MYH7 mutation and MYBPC3 mutations.
    Kadota C, Arimura T, Hayashi T, Naruse TK, Kawai S, Kimura A.

    Atrial fibrillation occurred in 74 patients with hypertrophic cardiomyopathy (31%), but with no difference among genotype groups (31% in MYBPC3, 37% in MYH7 and 18% in other genotypes, p = 0.15).

    Impact of Genotype on the Occurrence of Atrial Fibrillation in Patients With Hypertrophic Cardiomyopathy.
    Bongini C, Ferrantini C, Girolami F, Coppini R, Arretini A, Targetti M, Bardi S, Castelli G, Torricelli F, Cecchi F, Ackerman MJ, Padeletti L, Poggesi C, Olivotto I.

    novel mutation in the MYH7 gene in a family with distal myopathy and core-like features

    Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report.
    Astrea G, Petrucci A, Cassandrini D, Savarese M, Trovato R, Lispi L, Rubegni A, Giacanelli M, Massa R, Nigro V, Santorelli FM., Free PMC Article

    We reported a case of mirror-type dextrocardia who developed HCM in adulthood exhibiting multiple genetic mutation related to sarcomere proteins

    Dextrocardia and symmetric hypertrophic cardiomyopathy with multiple mutations of genes encoding the sarcomere proteins.
    Fang F, Cui FM, He YM, Yang XJ, Zhao X, Xu HF, Yu CM.

    analysis of the interaction between residues Glu-497 in the relay domain and Arg-712 in the converter domain of human beta-cardiac myosin

    Kronert WA, Melkani GC, Melkani A, Bernstein SI., Free PMC Article

    A beta-myosin molecule's ADP release rate depends exponentially on the applied load, in qualitative agreement with cardiac muscle, which contracts with a velocity inversely proportional to external load.

    Harmonic force spectroscopy measures load-dependent kinetics of individual human β-cardiac myosin molecules.
    Sung J, Nag S, Mortensen KI, Vestergaard CL, Sutton S, Ruppel K, Flyvbjerg H, Spudich JA., Free PMC Article

    Results in this family show that mutation in MYH7 can lead to restrictive or mixed cardiomyopathy.

    A novel MYH7 mutation in a family with cardiomyopathy presenting with restrictive physiology and varying degrees of left ventricle hypertrophy.
    Yu BL, Xiang R, Hu D, Peng DQ.

    MYH7 mutation is associated with Inherited Cardiomyopathy.

    A Variant Detection Pipeline for Inherited Cardiomyopathy-Associated Genes Using Next-Generation Sequencing.
    Oliveira TG, Mitne-Neto M, Cerdeira LT, Marsiglia JD, Arteaga-Fernandez E, Krieger JE, Pereira AC.

    Mutations in the MYBPC3 and CASQ2 genes and six combinations between loci in the MYBPC3, MYH7 and CASQ2 genes were responsible for cardiomyopathy risk in a studied cohort.

    Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group.
    Glotov AS, Kazakov SV, Zhukova EA, Alexandrov AV, Glotov OS, Pakin VS, Danilova MM, Poliakova IV, Niyazova SS, Chakova NN, Komissarova SM, Kurnikova EA, Sarana AM, Sherbak SG, Sergushichev AA, Shalyto AA, Baranov VS.

    human alpha- and beta-cardiac myosin, as well as the mutants, show opposite mechanical and enzymatic phenotypes with respect to each other.

    Ensemble force changes that result from human cardiac myosin mutations and a small-molecule effector.
    Aksel T, Choe Yu E, Sutton S, Ruppel KM, Spudich JA., Free PMC Article

    no significant difference in the prevalence of the studied mutations between the patients with Hypertrophic cardiomyopathy and the healthy controls (p>0.05).

    Beta-myosin heavy-chain mutations R403QLW, V606M, K615N and R663H in patients with hypertrophic cardiomyopathy.
    Atay S, Tetik A, Bozok Çetintaş V, Yakar Tülüce S, Tülüce K, Kayıkçıoğlu M, Eroğlu Z.

    This study demonstrated that two families with MYH7 distal myopathy associated with cardiomyopathy and core formations.

    Two families with MYH7 distal myopathy associated with cardiomyopathy and core formations.
    Naddaf E, Waclawik AJ.

    The molecular characterization of the four myosin skip residues also provides a guide to modeling the effects of rod mutations causing cardiac and skeletal myopathies.

    Skip residues modulate the structural properties of the myosin rod and guide thick filament assembly.
    Taylor KC, Buvoli M, Korkmaz EN, Buvoli A, Zheng Y, Heinze NT, Cui Q, Leinwand LA, Rayment I., Free PMC Article

    Mutations in the converter region of beta myosin heavy chain are associated with adverse prognosis of patients with cardiomyopathies, although there are differences between mutations.

    Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.
    García-Giustiniani D, Arad M, Ortíz-Genga M, Barriales-Villa R, Fernández X, Rodríguez-García I, Mazzanti A, Veira E, Maneiro E, Rebolo P, Lesende I, Cazón L, Freimark D, Gimeno-Blanes JR, Seidman C, Seidman J, McKenna W, Monserrat L., Free PMC Article

    MYH7-R1053Q was found to be a common mutation in Finnish patients with hypertrophic cardiomyopathy.

    A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy.
    Jääskeläinen P, Heliö T, Aalto-Setälä K, Kaartinen M, Ilveskoski E, Hämäläinen L, Melin J, Kärkkäinen S, Peuhkurinen K, Nieminen MS, Laakso M, FinHCM Study Group., Kuusisto J.

    3 family members with a dominant mutation in distal rod of MYH7 [c.5401G> A (p.Glu1801Lys)] with a complex phenotype of Laing Distal Myopathy like phenotype, left ventricular noncompaction cardiomyopathy and Fiber Type Disproportion at muscle biopsy

    A rare mutation in MYH7 gene occurs with overlapping phenotype.
    Ruggiero L, Fiorillo C, Gibertini S, De Stefano F, Manganelli F, Iodice R, Vitale F, Zanotti S, Galderisi M, Mora M, Santoro L.

    study shows faster cross-bridge kinetics and increase in energetic costs of tension generation of sarcomeres from hypertrophic cardiomyopathy (HCM) patients with the R403Q MYH7 mutation compared to mutation-negative patients; increased tension cost might contribute to HCM disease in patients carrying the R403Q mutation

    Faster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with the R403Q MYH7 mutation.
    Witjas-Paalberends ER, Ferrara C, Scellini B, Piroddi N, Montag J, Tesi C, Stienen GJ, Michels M, Ho CY, Kraft T, Poggesi C, van der Velden J., Free PMC Article

    Gene-specific severity of cardiac abnormalities may underlie differences in disease onset and suggests that early initiation of metabolic treatment may be beneficial, in particular, in myosin heavy chain (MYH7) mutation carriers

    Gene-specific increase in the energetic cost of contraction in hypertrophic cardiomyopathy caused by thick filament mutations.
    Witjas-Paalberends ER, Güçlü A, Germans T, Knaapen P, Harms HJ, Vermeer AM, Christiaans I, Wilde AA, Dos Remedios C, Lammertsma AA, van Rossum AC, Stienen GJ, van Slegtenhorst M, Schinkel AF, Michels M, Ho CY, Poggesi C, van der Velden J.

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