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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. Among authors: olson en. Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077. Nat Commun. 2017. PMID: 28681861 Free PMC article.
Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.
Tukel T, Šošić D, Al-Gazali LI, Erazo M, Casasnovas J, Franco HL, Richardson JA, Olson EN, Cadilla CL, Desnick RJ. Tukel T, et al. Among authors: olson en. Am J Hum Genet. 2010 Aug 13;87(2):289-96. doi: 10.1016/j.ajhg.2010.07.009. Am J Hum Genet. 2010. PMID: 20691403 Free PMC article.
Structure-function analysis of myomaker domains required for myoblast fusion.
Millay DP, Gamage DG, Quinn ME, Min YL, Mitani Y, Bassel-Duby R, Olson EN. Millay DP, et al. Among authors: olson en. Proc Natl Acad Sci U S A. 2016 Feb 23;113(8):2116-21. doi: 10.1073/pnas.1600101113. Epub 2016 Feb 8. Proc Natl Acad Sci U S A. 2016. PMID: 26858401 Free PMC article.
Severe muscle wasting and denervation in mice lacking the RNA-binding protein ZFP106.
Anderson DM, Cannavino J, Li H, Anderson KM, Nelson BR, McAnally J, Bezprozvannaya S, Liu Y, Lin W, Liu N, Bassel-Duby R, Olson EN. Anderson DM, et al. Among authors: olson en. Proc Natl Acad Sci U S A. 2016 Aug 2;113(31):E4494-503. doi: 10.1073/pnas.1608423113. Epub 2016 Jul 14. Proc Natl Acad Sci U S A. 2016. PMID: 27418600 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. Among authors: olson en. Science. 2017 Apr 21;356(6335):323-327. doi: 10.1126/science.aam9361. Epub 2017 Apr 6. Science. 2017. PMID: 28386024 Free PMC article.
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