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KCNJ10 (Kir4.1) is expressed in the basolateral membrane of the cortical thick ascending limb

open access: yesAmerican Journal of Physiology - Renal Physiology, 2015
The aim of the present study is to examine the role of Kcnj10 (Kir.4.1) in contributing to the basolateral K conductance in the cortical thick ascending limb (cTAL) using Kcnj10(+/+) wild-type (WT) and Kcnj10(-/-) knockout (KO) mice.
Xiao-Tong Su, Wen-Hui Wang, Dao-Hong Lin
exaly   +2 more sources

Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype

open access: yesNeurogenetics, 2020
KCNJ10 encodes the inward-rectifying potassium channel (Kir4.1) that is expressed in the brain, inner ear, and kidney. Loss-of-function mutations in KCNJ10 gene cause a complex syndrome consisting of epilepsy, ataxia, intellectual disability ...
Richard Warth   +2 more
exaly   +2 more sources

EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10 [PDF]

open access: yesRare Diseases (Austin, Tex ), 2016
EAST syndrome is a recently described autosomal recessive disorder secondary to mutations in KCNJ10 (Kir4.1), a gene encoding a potassium channel expressed in the brain, eye, ear and kidney.
Horia Stanescu   +2 more
exaly   +1 more source
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