ERKNet

The European Rare Kidney Disease Reference Network

  

Journal Watch

Tubulopathies

Identification of Acer2 as a First Susceptibility Gene for Lithium-Induced Nephrogenic Diabetes Insipidus in Mice.
Author(s): de Groot T, Ebert LK, Christensen BM, Andralojc K, Cheval L, Doucet A, Mao C, Baumgarten R, Low BE, Sandhoff R, Wiles MV, Deen PMT, Korstanje R
Source: J Am Soc Nephrol 2019 Sep 26;
Publication date: 2019-09-26
HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood.
Author(s): Adalat S, Hayes WN, Bryant WA, Booth J, Woolf AS, Kleta R, Subtil S, Clissold R, Colclough K, Ellard S, Bockenhauer D
Source: Kidney Int Rep 2019 Sep;4(9):1304-1311
Publication date: 2019-09
Description of 5 Novel SLC34A3/NPT2c Mutations Causing Hereditary Hypophosphatemic Rickets With Hypercalciuria.
Author(s): Chen A, Ro H, Mundra VRR, Joseph K, Brenner D, Carpenter TO, Rizk DV, Bergwitz C
Source: Kidney Int Rep 2019 Aug;4(8):1179-1186
Publication date: 2019-08
Mineralized tissues in hypophosphatemic rickets.
Author(s): Robinson ME, AlQuorain H, Murshed M, Rauch F
Source: Pediatr Nephrol 2019 Aug 8;
Publication date: 2019-08-8
Familial hyperkalemia and hypertension and a hypothesis to explain proximal renal tubular acidosis.
Author(s): Farfel Z, Mayan H, Karlish SJD
Source: Proc Natl Acad Sci U S A 2019 Aug 13;116(33):16173-16174
Publication date: 2019-08-13
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