A FANCD2/FANCI-associated nuclease 1-knockout model develops karyomegalic interstitial nephritis
R Airik, M Schueler, M Airik, J Cho… - Journal of the …, 2016 - journals.lww.com
Karyomegalic interstitial nephritis (KIN) is a chronic interstitial nephropathy characterized by
tubulointerstitial nephritis and formation of enlarged nuclei in the kidneys and other tissues.
We recently reported that recessive mutations in the gene encoding FANCD2/FANCI-
associated nuclease 1 (FAN1) cause KIN in humans. FAN1 is a major component of the
Fanconi anemia–related pathway of DNA damage response (DDR) signaling. To study the
pathogenesis of KIN, we generated a Fan1 knockout mouse model, with abrogation of Fan1 …
tubulointerstitial nephritis and formation of enlarged nuclei in the kidneys and other tissues.
We recently reported that recessive mutations in the gene encoding FANCD2/FANCI-
associated nuclease 1 (FAN1) cause KIN in humans. FAN1 is a major component of the
Fanconi anemia–related pathway of DNA damage response (DDR) signaling. To study the
pathogenesis of KIN, we generated a Fan1 knockout mouse model, with abrogation of Fan1 …