Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan variety) related to the site of missense mutations in lamin A/C gene

Journal of Clinical Endocrinology and Metabolism

Volumn 86, Issue 1, 2001, Pages 59-65

  Garg, Abhimanyu ^a,b   Vinaitheerthan, Maheswari ^a   Weatherall, Paul T ^b   Bowcock, Anne M ^c  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LAMIN A; LAMIN C; TRIACYLGLYCEROL;

ADULT; ANTHROPOMETRY; ARTICLE; BODY FAT; CLINICAL ARTICLE; EXON; FAMILIAL DISEASE; FEMALE; GENETIC HETEROGENEITY; HUMAN; LIPODYSTROPHY; LIPOPROTEIN BLOOD LEVEL; MALE; METABOLIC PARAMETERS; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; TRIACYLGLYCEROL BLOOD LEVEL;

ADIPOSE TISSUE; ADULT; ANTHROPOMETRY; BODY COMPOSITION; FEMALE; HUMANS; LAMIN TYPE A; LAMINS; LIPODYSTROPHY; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION, MISSENSE; NUCLEAR PROTEINS; PHENOTYPE; VARIATION (GENETICS);

EID: 0035145898     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.86.1.59     Document Type: Article

References (22)

1. Familial lipoatrophic diabetes with dominant transmission: A new syndrome
2. Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety)
3. Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22
4. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
5. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
6. Mutational and haplotype analyses of families with familial partial lipodystrophy (Durmigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C
7. Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety)
8. Generalized equations for predicting body density of women
9. Regional adipose tissue distribution in multiple symmetric lipomatosis (MSL)
10. A syndrome of peripheral lipodystrophy, hyperlipidaemia and insulin resistance in patients receiving HIV protease inhibitors
11. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
12. cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins
13. Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation
14. Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins
15. Immunocytochemical detection of emerin within the nuclear matrix
16. The lamin B receptor of the nuclear envelope inner membrane: A polytopic protein with eight potential transmembrane domains
17. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
18. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
19. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
20. An alternative splicing product of the lamin A/C gene lacks exon 10
21. Abnormal A-type lamin organisation in a human lung carcinoma cell line
22. Distinct nuclear assembly pathways for lamins A and C lead to their increase during quiescence in Swiss 3T3 cells