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A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN; Moebius Syndrome Research Consortium; Carey JC, Robertson SP, Manoli I, Engle EC. Di Gioia SA, et al. Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077. Nat Commun. 2017. PMID: 28681861 Free PMC article.
Control of muscle formation by the fusogenic micropeptide myomixer.
Bi P, Ramirez-Martinez A, Li H, Cannavino J, McAnally JR, Shelton JM, Sánchez-Ortiz E, Bassel-Duby R, Olson EN. Bi P, et al. Science. 2017 Apr 21;356(6335):323-327. doi: 10.1126/science.aam9361. Epub 2017 Apr 6. Science. 2017. PMID: 28386024 Free PMC article.
Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome.
Ramirez-Martinez A, Zhang Y, van den Boogaard MJ, McAnally JR, Rodriguez-Caycedo C, Chai AC, Chemello F, Massink MP, Cuppen I, Elferink MG, van Es RJ, Janssen NG, Walraven-van Oijen LP, Liu N, Bassel-Duby R, van Jaarsveld RH, Olson EN. Ramirez-Martinez A, et al. J Clin Invest. 2022 Jun 1;132(11):e159002. doi: 10.1172/JCI159002. J Clin Invest. 2022. PMID: 35642635 Free PMC article.
An Argonaute phosphorylation cycle promotes microRNA-mediated silencing.
Golden RJ, Chen B, Li T, Braun J, Manjunath H, Chen X, Wu J, Schmid V, Chang TC, Kopp F, Ramirez-Martinez A, Tagliabracci VS, Chen ZJ, Xie Y, Mendell JT. Golden RJ, et al. Nature. 2017 Feb 9;542(7640):197-202. doi: 10.1038/nature21025. Epub 2017 Jan 23. Nature. 2017. PMID: 28114302 Free PMC article.
25 results