MYH7


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MYH7

A gene on chromosome 14q12 that encodes a heavy chain of myosin and is thus involved in cytokinesis, cell shape and specialised functions—e.g., secretion and capping.
References in periodicals archive ?
MYH6 and MYH7 were linked especially to other myosin and contractility proteins (Figures 4 and 5).
In mammals, the myosin heavy-chain isoforms MYH6 and MYH7 have been identified as cardiac motor proteins that are crucial determinants of contractile performance in cardiac muscle tissue [65, 66].
miR-499 plays a crucial role in the development of myocardial hypertrophy and fibrosis by targeting many intracellular signaling molecules and transcription factors including Akt, MAPKs, Egr1, Egr2, and Fos or promoting Myh7 and Acta1 expressions [68].
To address this, recent studies have focused on improving the interpretability of novel and rare variants found in key cardiac genes, by using large disease and control cohorts to identify regions of ion channels (associated with LQTS) (14, 43), MYH7 (missense variants in HCM) (12) and TTN (truncating variants in DCM) (7) that are enriched with variants in patients.
Mutations in two sarcomere genes, those encoding [beta]-myosin heavy chain (MYH7) and myosin-binding protein C (MYBPC3) are by far the most common accounting for 70% of those successfully genotyped.
Did the authors exclude mutations in nDNA-located genes which have been shown to cause dCMP, such as MYH7 , MYBPC3 , LMNA , TNNI3 , TNNT2 , ACTC1 , TPM1 , SCN5A , MYL2 , MYH6 , MYL3 , PLEKHM2 , HAND1 , RBM20 , FBXO32 , DES , YBPC3 , MYPN , and PRKAG2 ?[sup][2] Arguments against the m.8701A>G variant as being causative are that the variant has not been reported as pathogenic, was homoplasmic, that no biochemical defect was demonstrated neither in skeletal muscle nor in skin fibroblasts, that the heteroplasmy rate was not tested in tissues other than lymphocytes, that a maternal trait is not the only possible transmission, that no other organs except the myocardium were affected, and that the variant occurred also in a subject of the control group.
The following primers were used for the polymerase chain reaction amplification of exons 13, 14, and 19 of the MYH7 gene associated with the Arg403Gln, Arg453Cys, Arg719Trp and Arg719Gln mutations, which are the most common mutations according to the literature [9].
There are 2 cardiac MHC isoforms, [alpha]- and [beta]-MHC with genes encoding them (MYH6 and MYH7 respectively) located on 14 chromosome.
Mutations in two genes-[beta]-myosin heavy chain (MYH7) and myosin binding protein C (MYBPC3, cardiac isoform) are responsible for 50 to 70% of genetic cases of HCM (3, 12, 13).
In terms of cardiomyocyte structural constituent, MYH7, MYL2, and MYL3 were upregulated significantly (P < 0.05) after 14 days as opposed to DES and MYL7 which were only upregulated significantly (P < 0.05) at the 7th day (Figure 5(a)).
However, TCDD treatment significantly repressed the expression of Nkx2-5, Shox2, Myh6, Myh7, Cx40, Mlc2v, Hcn4, and Nppa in nonbeating cells and induced Cyp1a1 expression in both beating and nonbeating cells (Figure 2A).