Novel KCNJ10 Compound Heterozygous Mutations Causing EAST/SeSAME-Like Syndrome Compromise Potassium Channel Function [PDF]
Frontiers in Genetics, 2019 Inwardly rectifying K+ channel 4.1 (Kir4.1), encoded by KCNJ10, is a member of the inwardly rectifying potassium channel family. In the brain, Kir4.1 is predominant in astrocytic glia and accounts for the spatial buffering of K+ released by neurons ...
Hongfeng Zhang +14 more
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A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1) [PDF]
G3: Genes, Genomes, Genetics, 2017 Spongy degeneration with cerebellar ataxia (SDCA) is a severe neurodegenerative disease with monogenic autosomal recessive inheritance in Malinois dogs, one of the four varieties of the Belgian Shepherd breed.
Nico Mauri +17 more
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Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model [PDF]
BMC Medicine, 2004 Background Pendred syndrome, a common autosomal-recessive disorder characterized by congenital deafness and goiter, is caused by mutations of SLC26A4, which codes for pendrin.
Wall Susan M +11 more
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Scientific ReportsThe stria vascularis (SV) is a stratified epithelium in the lateral wall of the mammalian cochlea, responsible for both endolymphatic ion homeostasis and generation of the endocochlear potential (EP) critical for normal hearing.
Dillon Strepay +12 more
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Collecting system–specific deletion of Kcnj10 predisposes for thiazide- and low-potassium diet–induced hypokalemia [PDF]
, 2020 The basolateral potassium channel KCNJ10 (Kir4.1), is expressed in the renal distal convoluted tubule and controls the activity of the thiazide-sensitive sodium chloride cotransporter.
Bandulik, Sascha +8 more
core +1 more source
Neurobiology of Disease, 2011 The inwardly-rectifying potassium channel Kir4.1 is a major player in the astrocyte-mediated regulation of [K+]o in the brain, which is essential for normal neuronal activity and synaptic functioning.
Federico Sicca +10 more
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Oligodendrocyte-encoded Kir4.1 function is required for axonal integrity
eLife, 2018 Glial support is critical for normal axon function and can become dysregulated in white matter (WM) disease. In humans, loss-of-function mutations of KCNJ10, which encodes the inward-rectifying potassium channel KIR4.1, causes seizures and progressive ...
Lucas Schirmer +20 more
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Role of collecting duct principal cell NOS1β in sodium and potassium homeostasis
Physiological Reports, 2021 The nitric oxide (NO)‐generating enzyme, NO synthase‐1β (NOS1β), is essential for sodium (Na+) homeostasis and blood pressure control. We previously showed that collecting duct principal cell NOS1β is critical for inhibition of the epithelial sodium ...
Kelly A. Hyndman +6 more
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KCNJ10 Mutations Display Differential Sensitivity to Heteromerisation with KCNJ16 [PDF]
, 2013 Background/Aims: Mutations in the inwardly-rectifying K(+)-channel KCNJ10/Kir4.1 cause autosomal recessive EAST syndrome (epilepsy, ataxia, sensorineural deafness and tubulopathy).
Zdebik, Anselm A. +20 more
core +2 more sources
EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies
Frontiers in Physiology, 2022 In 2009, two groups independently linked human mutations in the inwardly rectifying K+ channel Kir4.1 (gene name KCNJ10) to a syndrome affecting the central nervous system (CNS), hearing, and renal tubular salt reabsorption.
Jacky Lo +4 more
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