Cargando…
A mouse collagen4α4 mutation causing Alport glomerulosclerosis with abnormal collagen α3α4α5(IV) trimers
A spontaneous mutation termed bilateral wasting kidneys (bwk) was identified in a colony of NONcNZO recombinant inbred mice. These mice exhibit a rapid increase of urinary albumin at an early age associated with glomerulosclerosis, interstitial nephritis, and tubular atrophy. The mutation was mapped...
Autores principales: | Korstanje, Ron, Caputo, Christina, Doty, Rosalinda, Cook, Susan, Bronson, Roderick, Davisson, Muriel, Miner, Jeffrey H. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040157/ https://www.ncbi.nlm.nih.gov/pubmed/24522496 http://dx.doi.org/10.1038/ki.2013.493 |
Ejemplares similares
-
Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome
por: Gibson, Joel T., et al.
Publicado: (2022) -
Characterization of α1(IV) Collagen Mutations in Caenorhabditis elegans and the Effects of α1 and α2(IV) Mutations on Type IV Collagen Distribution
por: Gupta, Malini C., et al.
Publicado: (1997) -
iPSC-derived type IV collagen α5-expressing kidney organoids model Alport syndrome
por: Hirayama, Ryuichiro, et al.
Publicado: (2023) -
Collagen IV(α345) dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture’s and Alport diseases
por: Pokidysheva, Elena N., et al.
Publicado: (2021) -
A novel missense mutation of COL4A5 gene alter collagen IV α5 chain to cause X-linked Alport syndrome in a Chinese family
por: Kuang, Xinyu, et al.
Publicado: (2020)