Fan1 deficiency results in DNA interstrand cross-link repair defects, enhanced tissue karyomegaly, and organ dysfunction

Deficiency of FANCD2/FANCI-associated nuclease 1 (FAN1) in humans leads to karyomegalic interstitial nephritis (KIN), a rare hereditary kidney disease characterized by chronic renal fibrosis, tubular degeneration, and characteristic polyploid nuclei in multiple tissues. The mechanism of how FAN1 pro...

Descripción completa

Detalles Bibliográficos
Autores principales: Thongthip, Supawat, Bellani, Marina, Gregg, Siobhan Q., Sridhar, Sunandini, Conti, Brooke A., Chen, Yanglu, Seidman, Michael M., Smogorzewska, Agata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2016
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803051/
https://www.ncbi.nlm.nih.gov/pubmed/26980189
http://dx.doi.org/10.1101/gad.276261.115

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803051/
https://www.ncbi.nlm.nih.gov/pubmed/26980189
http://dx.doi.org/10.1101/gad.276261.115

Ejemplares similares