Journal Watch

Tubulopathies

Effects of Proximal Tubule Shortening on Protein Excretion in a Lowe Syndrome Model.
Author(s): Gliozzi ML, Espiritu EB, Shipman KE, Rbaibi Y, Long KR, Roy N, Duncan AW, Lazzara MJ, Hukriede NA, Baty CJ, Weisz OA
Source: J Am Soc Nephrol 2019 Nov 1;
Publication date: 2019-11-1
Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia.
Author(s): Lorenz R, Ahting U, Betzler C, Heimering S, Borggräfe I, Lange-Sperandio B
Source: Nephron 2019 Nov 13;:1-5
Publication date: 2019-11-13
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
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