Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

By H. Cao, R. Hegele. Human Molecular Genetics, 2000

681 citations recorded by the source corpus.

Subfields: Molecular Biology

View Paper: https://www.semanticscholar.org/paper/d473547e9f7f9d0af270d3dfb62879441687e3fa

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In Molecular Biology

1. Gerald I. Shulman
2. Ralph DeFronzo
3. V. Samuel
4. K. Petersen

Citations in the corpus

• 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.”
• 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).”
• Surgical implantation of adipose tissue reverses diabetes in lipoatrophic mice. (2000, background): “However, despite the recent identification of a mutation in the lamin A/C gene in Dunnigan lipodystrophy patients (8), the mechanism(s) and tissue(s) of action remain a mystery.”