LMNA, encoding lamin A/C, is mutated in partial lipodystrophy

By S. Shackleton, D. Lloyd, S. Jackson, R. Evans, M. Niermeijer, Baldev M Singh, H. Schmidt, G. Brabant, Sudesh Kumar, P. Durrington and 3 more. Nature Genetics, 2000

714 citations recorded by the source corpus.

Subfields: Molecular Biology

View Paper: https://www.semanticscholar.org/paper/bfed6e060893d86da373f5aa6df0c9b224cc5da4

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Molecular Biology

1. F. Alsaraj

Citations in the corpus

• Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). (2000, background): “Finally, very recently, missense mutations on codons 482 and 486, localized in exon 8 of LMNA, were reported to be implicated in Dunningan-type familial partial lipodystrophy (FLPD) (34,35).”
• Nuclear lamins: building blocks of nuclear architecture. (2002, background): “Consequently, EDMD, FPLD, DCM, and LGMD may represent different degrees of penetrance of the same disease.”
• Pathogenesis of Type 2 Diabetes Mellitus (2015, background): “The LMNA codon 482 missense mutation was observed to strongly associated with hyperinsulinemia, dyslipidemia, hypertension, and T2DM [137,138,139].”