Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling
R Airik, GG Slaats, Z Guo, AC Weiss… - Journal of the …, 2014 - journals.lww.com
Nephronophthisis-related ciliopathies (NPHP-RCs) are developmental and degenerative
kidney diseases that are frequently associated with extrarenal pathologies such as retinal
degeneration, obesity, and intellectual disability. We recently identified mutations in a gene
encoding the centrosomal protein SDCCAG8 as causing NPHP type 10 in humans. To study
the role of Sdccag8 in disease pathogenesis, we generated a Sdccag8 gene-trap mouse
line. Homozygous Sdccag8 gt/gt mice lacked the wild-type Sdccag8 transcript and protein …
kidney diseases that are frequently associated with extrarenal pathologies such as retinal
degeneration, obesity, and intellectual disability. We recently identified mutations in a gene
encoding the centrosomal protein SDCCAG8 as causing NPHP type 10 in humans. To study
the role of Sdccag8 in disease pathogenesis, we generated a Sdccag8 gene-trap mouse
line. Homozygous Sdccag8 gt/gt mice lacked the wild-type Sdccag8 transcript and protein …