Laminopathies —one gene, multiple diseases
- VernacularTitle:核纤层蛋白病——一个基因,多种疾病
- Author:
Shujuan SONG
;
Yuanzhi ZHANG
;
Nanbert ZHON
- Publication Type:Journal Article
- Keywords:
Lamins;
Genetic disease,inborn;
Gene, LMNA;
Disease model,animal
- From:
Journal of Peking University(Health Sciences)
2004;0(01):-
- CountryChina
- Language:Chinese
-
Abstract:
Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. To date, at least 9 different human diseases, which superficially seem to share little with one another, result from LMNA mutations. The position of the mutation within LMNA appears to be associated with the phenotypes. This review gives an overview of genotype-phenotype relationship and describes recent advances in animal models and pathogenic mechanisms.
