Polycystin-1 regulates the stability and ubiquitination of transcription factor Jade-1.
Human Molecular Genetics
Foy, Rebecca L RL; Chitalia, Vipul C VC; Panchenko, Maria V MV; Zeng, Liling L; Lopez, Delia D; Lee, Jean W JW; Rana, Shaunak V SV; Boletta, Alessandra A; Qian, Feng F; Tsiokas, Leonidas L; Piontek, Klaus B KB; Germino, Gregory G GG; Zhou, Mina I MI; Cohen, Herbert T HT
Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.
Journal Of The American Society Of Nephrology : Jasn
Rossetti, Sandro S; Hopp, Katharina K; Sikkink, Robert A RA; Sundsbak, Jamie L JL; Lee, Yean Kit YK; Kubly, Vickie V; Eckloff, Bruce W BW; Ward, Christopher J CJ; Winearls, Christopher G CG; Torres, Vicente E VE; Harris, Peter C PC
Publication Date: 2012-05
Variant appearance in text: PKD1: 9047A>G; Gln3016Arg
Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.
Molecular Genetics And Metabolism
Garcia-Gonzalez, Miguel A MA; Jones, Jeffrey G JG; Allen, Susan K SK; Palatucci, Christopher M CM; Batish, Sat D SD; Seltzer, William K WK; Lan, Zheng Z; Allen, Erica E; Qian, Feng F; Lens, Xose M XM; Pei, York Y; Germino, Gregory G GG; Watnick, Terry J TJ
Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Qian, Feng F; Boletta, Alessandra A; Bhunia, Anil K AK; Xu, Hangxue H; Liu, Lijuan L; Ahrabi, Ali K AK; Watnick, Terry J TJ; Zhou, Fang F; Germino, Gregory G GG
Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.
American Journal Of Human Genetics
Rossetti, S S; Strmecki, L L; Gamble, V V; Burton, S S; Sneddon, V V; Peral, B B; Roy, S S; Bakkaloglu, A A; Komel, R R; Winearls, C G CG; Harris, P C PC