Cargando…
COL4A6 is dispensable for autosomal recessive Alport syndrome
Alport syndrome is caused by mutations in the genes encoding α3, α4, or α5 (IV) chains. Unlike X-linked Alport mice, α5 and α6 (IV) chains are detected in the glomerular basement membrane of autosomal recessive Alport mice, however, the significance of this finding remains to be investigated. We the...
Autores principales: | Murata, Tomohiro, Katayama, Kan, Oohashi, Toshitaka, Jahnukainen, Timo, Yonezawa, Tomoko, Sado, Yoshikazu, Ishikawa, Eiji, Nomura, Shinsuke, Tryggvason, Karl, Ito, Masaaki |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932521/ https://www.ncbi.nlm.nih.gov/pubmed/27377778 http://dx.doi.org/10.1038/srep29450 |
Ejemplares similares
-
Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome
por: Levy, Michal, et al.
Publicado: (2023) -
Genotype-Phenotype Correlations for Pathogenic COL4A3–COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport Syndrome
por: Savige, Judy, et al.
Publicado: (2022) -
Efficacy of Dapagliflozin in Adult Autosomal Recessive Alport Syndrome
por: Song, Zhuo-ran, et al.
Publicado: (2022) -
Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports
por: Gao, Xiaoli, et al.
Publicado: (2023) -
Features of Autosomal Recessive Alport Syndrome: A Systematic Review
por: Lee, Jiwon M., et al.
Publicado: (2019)