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Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy.
Vigouroux C, Magré J, Vantyghem MC, Bourut C, Lascols O, Shackleton S, Lloyd DJ, Guerci B, Padova G, Valensi P, Grimaldi A, Piquemal R, Touraine P, Trembath RC, Capeau J. Vigouroux C, et al. Among authors: shackleton s. Diabetes. 2000 Nov;49(11):1958-62. doi: 10.2337/diabetes.49.11.1958. Diabetes. 2000. PMID: 11078466
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O'Rahilly S, Trembath RC. Shackleton S, et al. Nat Genet. 2000 Feb;24(2):153-6. doi: 10.1038/72807. Nat Genet. 2000. PMID: 10655060
Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis.
Zhou C, Li C, Zhou B, Sun H, Koullourou V, Holt I, Puckelwartz MJ, Warren DT, Hayward R, Lin Z, Zhang L, Morris GE, McNally EM, Shackleton S, Rao L, Shanahan CM, Zhang Q. Zhou C, et al. Among authors: shackleton s. Hum Mol Genet. 2017 Jun 15;26(12):2258-2276. doi: 10.1093/hmg/ddx116. Hum Mol Genet. 2017. PMID: 28398466 Free PMC article.
42 results