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...

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Detalhes bibliográficos
Publicado no:Genes Dev
Main Authors: Thongthip, Supawat, Bellani, Marina, Gregg, Siobhan Q., Sridhar, Sunandini, Conti, Brooke A., Chen, Yanglu, Seidman, Michael M., Smogorzewska, Agata
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2016
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4803051/
https://ncbi.nlm.nih.gov/pubmed/26980189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gad.276261.115
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