Review
[Molecular genetics of Alport syndrome]
[Article in
Japanese]
Affiliations
- PMID: 1491454
Item in Clipboard
Review
[Molecular genetics of Alport syndrome]
[Article in
Japanese]
Nihon Rinsho.
1992 Dec.
Free article
Abstract
Alport syndrome is a hereditary glomerulonephritis in which progressive loss of kidney function is often accompanied by sensorineural deafness. Ultrastructural studies in glomerular basement membranes (GBM) of Alport syndrome patients implicate an altered GBM protein structure as the cause of nephritis. The product of COL4A5, the alpha 5 (IV) collagen chain, is a specific component of GBM of the kidney. Various mutations in the COL4A5 gene have been identified in X-linked dominant Alport syndrome, and these aberrations of the alpha 5 (IV) can account for at least a part of X-linked Alport syndrome.
Similar articles
-
Alpha 5 COLIV chain distribution in glomerular basement membrane in a male with X-linked Alport syndrome and thin basement membrane.Pediatr Nephrol. 2000 Dec;15(3-4):325. Pediatr Nephrol. 2000. PMID: 11149132 No abstract available.
-
[Alport syndrome or progressive hereditary nephritis with hearing loss].Nephrol Ther. 2007 Jun;3(3):113-20. doi: 10.1016/j.nephro.2007.03.005. Epub 2007 May 8. Nephrol Ther. 2007. PMID: 17540313 French.
-
Identification of mutations in the COL4A5 collagen gene in Alport syndrome.Science. 1990 Jun 8;248(4960):1224-7. doi: 10.1126/science.2349482. Science. 1990. PMID: 2349482
-
Clinical and molecular diagnosis of Alport syndrome.Proc Assoc Am Physicians. 1995 Oct;107(3):306-13. Proc Assoc Am Physicians. 1995. PMID: 8608415 Review.
-
Mutations in type IV collagen genes and Alport phenotypes.Contrib Nephrol. 1996;117:154-71. doi: 10.1159/000424812. Contrib Nephrol. 1996. PMID: 8801044 Review. No abstract available.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
