Cargando…
Inactivation of Invs/Nphp2 in renal epithelial cells drives infantile nephronophthisis like phenotypes in mouse
Nephronophthisis (NPHP) is a ciliopathy characterized by renal fibrosis and cyst formation, and accounts for a significant portion of end stage renal disease in children and young adults. Currently, no targeted therapy is available for this disease. INVS/NPHP2 is one of the over 25 NPHP genes identi...
Autores principales: | Li, Yuanyuan, Xu, Wenyan, Makova, Svetlana, Brueckner, Martina, Sun, Zhaoxia |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
eLife Sciences Publications, Ltd
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10154023/ https://www.ncbi.nlm.nih.gov/pubmed/36920028 http://dx.doi.org/10.7554/eLife.82395 |
Ejemplares similares
-
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
por: Hoff, Sylvia, et al.
Publicado: (2013) -
Many Genes—One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders
por: Srivastava, Shalabh, et al.
Publicado: (2018) -
A case report of NPHP1 deletion in Chinese twins with nephronophthisis
por: Chen, Feng, et al.
Publicado: (2020) -
SUMOylation Blocks the Ubiquitin-Mediated Degradation of the Nephronophthisis Gene Product Glis2/NPHP7
por: Ramachandran, Haribaskar, et al.
Publicado: (2015) -
PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion
por: Watanabe, Saki, et al.
Publicado: (2019)