The European Rare Kidney Disease Reference Network


Journal Watch

Renal malformations and ciliopathies

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.
Author(s): Choi YJ, Halbritter J, Braun DA, Schueler M, Schapiro D, Rim JH, Nandadasa S, Choi WI, Widmeier E, Shril S, Körber F, Sethi SK, Lifton RP, Beck BB, Apte SS, Gee HY, Hildebrandt F
Source: Am J Hum Genet 2019 Jan 3;104(1):45-54
Publication date: 2019-01-3
Analysis of cilia dysfunction phenotypes in zebrafish embryos depleted of Origin recognition complex factors.
Author(s): Maerz LD, Casar Tena T, Gerhards J, Donow C, Jeggo PA, Philipp M
Source: Eur J Hum Genet 2019 Jan 29;
Publication date: 2019-01-29
Identifying patient-important outcomes in polycystic kidney disease: an international nominal group technique study.
Author(s): Cho Y, Sautenet B, Gutman T, Rangan G, Craig JC, Ong AC, Chapman A, Ahn C, Coolican H, Kao JT, Gansevoort R, Perrone RD, Harris T, Torres V, Pei Y, Kerr PG, Ryan J, Johnson DW, Viecelli AK, Geneste C, Kim H, Kim Y, Oh YK, Teixeira-Pinto A, Logeman C, Howell M, Ju A, Manera KE, Tong A
Source: Nephrology (Carlton) 2019 Jan 20;
Publication date: 2019-01-20
Increased water intake reduces long-term renal and cardiovascular disease progression in experimental polycystic kidney disease.
Author(s): Sagar PS, Zhang J, Luciuk M, Mannix C, Wong ATY, Rangan GK
Source: PLoS One 2019;14(1):e0209186
Publication date: 2019
A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation.
Author(s): Chen J, Ma N, Zhao X, Li W, Zhang Q, Yuan S, Tan YQ, Lu G, Lin G, Du J
Source: J Hum Genet 2019 Mar;64(3):207-214
Publication date: 2019-03
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