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 |
Thematic areasHereditary glomerulopathies Immune glomerulopathies Tubulopathies Metabolic and stone disorders Thrombotic microangiopathies AD structural kidney disorders Renal malformations and ciliopathies Obstructive nephropathies Pediatric CKD and dialysis Pediatric kidney transplantationRecently added publications |
