A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.
Kidney International Reports
Lindemann, Christoph Heinrich CH; Wenzel, Andrea A; Erger, Florian F; Middelmann, Lea L; Borde, Julika J; Hahnen, Eric E; Krauß, Denise D; Oehm, Simon S; Arjune, Sita S; Todorova, Polina P; Burgmaier, Kathrin K; Liebau, Max Christoph MC; Grundmann, Franziska F; Beck, Bodo B BB; Müller, Roman-Ulrich RU
Publication Date: 2023-03
Variant appearance in text: PKD1: 12682C>T; R4228*
Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.
Kidney International
Hopp, Katharina K; Cornec-Le Gall, Emilie E; Senum, Sarah R SR; Te Paske, Iris B A W IBAW; Raj, Sonam S; Lavu, Sravanthi S; Baheti, Saurabh S; Edwards, Marie E ME; Madsen, Charles D CD; Heyer, Christina M CM; Ong, Albert C M ACM; Bae, Kyongtae T KT; Fatica, Richard R; Steinman, Theodore I TI; Chapman, Arlene B AB; Gitomer, Berenice B; Perrone, Ronald D RD; Rahbari-Oskoui, Frederic F FF; Torres, Vicente E VE; , ; Harris, Peter C PC
Publication Date: 2020-02
Variant appearance in text: PKD1: 12682C>T; Arg4228*
Polycystin-1 Assembles With Kv Channels to Govern Cardiomyocyte Repolarization and Contractility.
Circulation
Altamirano, Francisco F; Schiattarella, Gabriele G GG; French, Kristin M KM; Kim, Soo Young SY; Engelberger, Felipe F; Kyrychenko, Sergii S; Villalobos, Elisa E; Tong, Dan D; Schneider, Jay W JW; Ramirez-Sarmiento, Cesar A CA; Lavandero, Sergio S; Gillette, Thomas G TG; Hill, Joseph A JA
Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.
Kidney International
Paul, Binu M BM; Consugar, Mark B MB; Ryan Lee, Moonnoh M; Sundsbak, Jamie L JL; Heyer, Christina M CM; Rossetti, Sandro S; Kubly, Vickie J VJ; Hopp, Katharina K; Torres, Vicente E VE; Coto, Eliecer E; Clementi, Maurizio M; Bogdanova, Nadja N; de Almeida, Edgar E; Bichet, Daniel G DG; Harris, Peter C PC
Publication Date: 2014-02
Variant appearance in text: PKD1: 12682C>T; R4228X