Recombinant Human Myosin-2 (MYH2), partial

1. Exome analysis revealed homozygosity for a novel truncating mutation p.G800fs27* in the Myosin Heavy Chain 2 (MYH2) gene in both brothers, while parents and an unaffected sibling were heterozygous PMID: 28729039
2. differential regulation of PKA and cell stiffness in unconfined versus confined cells is abrogated by dual, but not individual, inhibition of Piezo1 and myosin II. PMID: 27160899
3. C-terminal Myosin IIA Heavy Chain phosphorylation sites are critical for recruitment of Myosin IIA to lamellar protrusions and for marginal paxillin phosphorylation during active cell spreading. PMID: 28053086
4. Data shoe that five of the patients were homozygous for myosin heavy chain 2 (MYH2) missense mutations, one patient was compound heterozygous for a missense and a nonsense mutation and one patient was homozygous for a frame-shift MYH2 mutation. PMID: 24193343
5. We have found that a greater MyH2 content in the vastus lateralis is accompanied by a higher oxygen cost of cycling during exercise performed below the lactate threshold. PMID: 24781731
6. This study presented more case in MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12. PMID: 23388406
7. A previously unrecognized interplay between actin and myosin IIA in podosomes, is demonstrated. PMID: 23361003
8. Myosin heavy chain 2A transcripts decreased significantly in skeletal muscle tissue from overnight parenterally fed patients but did not change significantly in orally refed mice PMID: 23190566
9. Phenotypic expression of alpha-smooth muscle actin, smooth muscle myosin heavy chain 2, and smoothelin were significantly decreased in the dissected media, whereas that of osteopontin was elevated. PMID: 22960022
10. This study demonistrated that the missense mutation c.2542T>C (p.V805A) in the MYHC2A gene. PMID: 22349865
11. The human genioglossus muscle is composed of conventional myosin heavy chain isoforms and 3 primary myosin hevy chain phenotypes. PMID: 22337492
12. NMMII and actin isoform expression changes coordinately with the remodeling phase of repair, and NMMII is increased as matrix stiffness increases. As NMMII expression increases, so does the fibroblast contractility. PMID: 21102503
13. Null mutations in the fast myosin heavy chain IIa gene cause early onset myopathy and demonstrate that this isoform is necessary for normal muscle development and function. PMID: 20418530
14. investigated the relation between expression of the mutant MyHC IIa and pathologic changes in muscle PMID: 11889243
15. Data suggest that changes in intracellular calcium may play a role in shifts in myosin heavy chain IIa (MyHC IIa) expression during muscle activation. PMID: 12235157
16. IRF-2 is involved in up-regulation of nonmuscle myosin heavy chain II-A gene expression in cell differentiation PMID: 15496418
17. analysis of normal variation indicates that there is strong selective pressure against mutations in MYH2; On the basis of these results, we suggest that MyHC genes should be regarded as candidate genes in hereditary myopathies of unknown etiology. PMID: 15741996
18. Our results provide evidence that the pathogenesis of the MyHC IIa E706K myopathy involves defective function of the mutated myosin as well as alterations in the structural integrity of all muscle cells irrespective of MyHC isoform expression. PMID: 17005402
19. myosin II has a role in glioma invasion of the brain PMID: 18495866

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HGNC: 7572

OMIM: 160740

KEGG: hsa:4620

STRING: 9606.ENSP00000245503

UniGene: Hs.667534