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IGFN1_v1 is required for myoblast fusion and differentiation.
Li X, Baker J, Cracknell T, Haynes AR, Blanco G. Li X, et al. Among authors: blanco g. PLoS One. 2017 Jun 30;12(6):e0180217. doi: 10.1371/journal.pone.0180217. eCollection 2017. PLoS One. 2017. PMID: 28665998 Free PMC article.
Upregulation of PKD1L2 provokes a complex neuromuscular disease in the mouse.
Mackenzie FE, Romero R, Williams D, Gillingwater T, Hilton H, Dick J, Riddoch-Contreras J, Wong F, Ireson L, Powles-Glover N, Riley G, Underhill P, Hough T, Arkell R, Greensmith L, Ribchester RR, Blanco G. Mackenzie FE, et al. Among authors: blanco g. Hum Mol Genet. 2009 Oct 1;18(19):3553-66. doi: 10.1093/hmg/ddp304. Epub 2009 Jul 4. Hum Mol Genet. 2009. PMID: 19578180 Free PMC article.
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb.
Kurapati R, McKenna C, Lindqvist J, Williams D, Simon M, LeProust E, Baker J, Cheeseman M, Carroll N, Denny P, Laval S, Lochmüller H, Ochala J, Blanco G. Kurapati R, et al. Among authors: blanco g. Hum Mol Genet. 2012 Apr 15;21(8):1706-24. doi: 10.1093/hmg/ddr605. Epub 2011 Dec 23. Hum Mol Genet. 2012. PMID: 22199023
636 results