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G-protein coupled receptor 56 promotes myoblast fusion through serum response factor- and nuclear factor of activated T-cell-mediated signalling but is not essential for muscle development in vivo.
Wu MP, Doyle JR, Barry B, Beauvais A, Rozkalne A, Piao X, Lawlor MW, Kopin AS, Walsh CA, Gussoni E. Wu MP, et al. Among authors: rozkalne a. FEBS J. 2013 Dec;280(23):6097-113. doi: 10.1111/febs.12529. Epub 2013 Oct 8. FEBS J. 2013. PMID: 24102982 Free PMC article.
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.
Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC. Di Costanzo S, et al. Among authors: rozkalne a. Hum Mol Genet. 2014 Nov 1;23(21):5781-92. doi: 10.1093/hmg/ddu296. Epub 2014 Jun 11. Hum Mol Genet. 2014. PMID: 24925318 Free PMC article.
19 results