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Mutational and Haplotype Analyses of Families with Familial Partial Lipodystrophy (Dunnigan Variety) Reveal Recurrent Missense Mutations in the Globular C-Terminal Domain of Lamin A/C

Rebecca A. Speckman, Abhimanyu Garg, Fenghe Du, Lynda Bennett, Rose Veile, Elif Arioǧlu, Simeon I. Taylor, Michael Lovett, A. Bowcock

The American Journal of Human Genetics · 2000 · 269 citations · 23 references

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23

Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease

Diane Fatkin, Calum A. MacRae, Takeshi Sasaki et al. · New England Journal of Medicine · 1999 · 1.4K citations · Full text

, , +17

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Gisèle Bonne, Marina Raffaele di Barletta, Shaïda Varnous et al. · Nature Genetics · 1999 · 1.3K citations

, , +7

Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins

Frank McKeon, Marc W. Kirschner, Daniel Caput · Nature · 1986 · 835 citations

, , +16

cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins.

D Z Fisher, Nilabh Chaudhary, Günter Blobel · Proceedings of the National Academy of Sciences · 1986 · 715 citations

, , +17

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

Sue Shackleton, David J. Lloyd, Stephen N.J. Jackson et al. · Nature Genetics · 2000 · 701 citations

, , +5