Mutations in the LMNA gene encoding lamin A/C

Human Mutation

Volumn 16, Issue 6, 2000, Pages 451-459

  Genschel, Janine ^a   Schmidt, Hartmut H J ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Autosomal dominant; Autosomal recessive; Dilated cardiomyopathy (CMD1A); EDMD2; Emery Dreifuss muscular dystrophy; Familial partial lipodystrophy; FPL; Lamin A C; LGMD1B; Limb girdle muscular dystrophy; LMNA

Indexed keywords

EMERIN; LAMIN A; LAMIN C;

AUTOSOMAL RECESSIVE DISORDER; CARDIOMYOPATHY; CHROMOSOME 1Q; EMERY DREIFUSS MUSCULAR DYSTROPHY; EXON; GENE MUTATION; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; RNA SPLICING;

ANIMALS; CARDIOMYOPATHY, DILATED; GENES; HUMANS; LAMIN TYPE A; LAMINS; LIPODYSTROPHY; MUSCULAR DYSTROPHIES; MUTATION; NUCLEAR PROTEINS;

EID: 0034536268     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200012)16:6<451::AID-HUMU1>3.0.CO;2-9     Document Type: Review

References (35)

1. Isoprenylation is required for the processing of the lamin A precursor
2. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
3. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
4. Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
5. Nuclear A-type lamins are differentially expressed in human lung cancer subtypes
6. Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy
7. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
8. Familial lipoatrophic diabetes with dominant transmission. A new syndrome
9. Emery-Dreifuss syndrome
10. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
11. Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene
12. cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins
13. Lipodystrophies
14. A new frame shift mutation at codon 466 (1397delA) within the LMNA gene
15. Organization and modulation of nuclear lamina structure
16. Functional organization of the nuclear envelope
17. Intermediate filament assembly: Fibrillogenesis is driven by decisive dimer-dimer interactions
18. Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes
19. The nuclear lamins. A multigene family of proteins in evolution and differentiation
20. Lipodystrophy and hepatomegaly with diabetes, lipaemia, and other metabolic disturbances: A case throwing a new light on the action of insulin
21. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
22. Nucleoplasmic localization of prelamin A: Implications for prenylation-dependent lamin A assembly into the nuclear lamina
23. An alternative splicing product of the lamin A/C gene lacks exon 10
24. Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy
25. Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins
26. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
27. Cells of the cellular immune and hemopoietic system of the mouse lack lamins A/C: Distinction versus other somatic cells
28. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
29. 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
30. 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
31. Nuclear lamins: Their structure, assembly, and interactions
32. Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy
33. Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21
34. Maturation of nuclear lamin A involves a specific carboxy-terminal trimming, which removes the polyisoprenylation site from the precursor; implications for the structure of the nuclear lamina
35. The nuclear envelope, muscular dystrophy and gene expression