Nephronophthisis(NPHP)is an autosomal recessive kidney disease and is the most prevalent monogenic cause of end-stage renal disease in childhood.The tetratricopeptide repeat domain 21B(TTC21B)gene encodes the ciliary ...Nephronophthisis(NPHP)is an autosomal recessive kidney disease and is the most prevalent monogenic cause of end-stage renal disease in childhood.The tetratricopeptide repeat domain 21B(TTC21B)gene encodes the ciliary protein intraflagellar transport protein 139(IFT139)and has been recently implicated in heterogeneous diseases,including nephronophthisis type 12(NPHP12),short-rib thoracic dysplasia 4(SRTD4).展开更多
基金supported by the National Natural Science Foundation of China(No.81873596)the Key Research and Development Program of Hubei Province,China(No.2022BCA047)the National Key Research and Development Program of China(No.2022YFC2705102 and No.2022YFC2705103).
文摘Nephronophthisis(NPHP)is an autosomal recessive kidney disease and is the most prevalent monogenic cause of end-stage renal disease in childhood.The tetratricopeptide repeat domain 21B(TTC21B)gene encodes the ciliary protein intraflagellar transport protein 139(IFT139)and has been recently implicated in heterogeneous diseases,including nephronophthisis type 12(NPHP12),short-rib thoracic dysplasia 4(SRTD4).
