Results 141 to 150 of about 3,106 (169)

KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential

American Journal of Physiology-Cell Physiology, 2002
Stria vascularis of the cochlea generates the endocochlear potential and secretes K+. K+ is the main charge carrier and the endocochlear potential the main driving force for the sensory transduction that leads to hearing. Stria vascularis consists of two barriers, marginal cells that secrete potassium and basal cells that are coupled via gap junctions
Daniel C, Marcus, Tao, Wu, Philine, Wangemann, Paulo, Kofuji   +3 more
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Developmental expression and localization of KCNJ10 K+ channels in the guinea pig inner ear

NeuroReport, 2006
The inward rectifier Kir4.1, composed of KCNJ10 K channel subunits, plays an essential role in inner ear K homeostasis. We have investigated the developmental expression and localization of KCNJ10 (Kir4.1) in the guinea pig inner ear using semi-quantitative reverse transcription polymerase chain reaction and immunohistochemistry.
Zhe, Jin, Dongguang, Wei, Leif, Järlebark   +2 more
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Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility

Epilepsy Research, 2004
Our research program uses genetic linkage and association analysis to identify human seizure sensitivity and resistance alleles. Quantitative trait loci mapping in mice led to identification of genetic variation in the potassium ion channel gene Kcnj10, implicating it as a putative seizure susceptibility gene.
R J, Buono, F W, Lohoff, T, Sander, M R, Sperling, M J, O'Connor, D J, Dlugos, S G, Ryan, G T, Golden, H, Zhao, T M, Scattergood, W H, Berrettini, T N, Ferraro   +11 more
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Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy

Epilepsy Research, 2005
Quantitative trait loci (QTL) mapping in mice revealed a seizure-related QTL (Szs1), for which the inward-rectifying potassium channel Kcnj10 is the most compelling candidate gene. Association analysis of the human KCNJ10 gene identified a common KCNJ10 missense variation (Arg271Cys) that influences susceptibility to focal and generalized epilepsies ...
K P, Lenzen, A, Heils, S, Lorenz, A, Hempelmann, S, Höfels, F W, Lohoff, B, Schmitz, T, Sander   +7 more
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Role of Potassium Channel GeneKcnj10in Ethanol Preference in C57bl/6J and DBA/2J Mice

Alcoholism: Clinical and Experimental Research, 2009
Background: Inwardly‐rectifying potassium channel protein Kir4.1 is encoded byKcnj10which maps to a quantitative trait locus on chromosome 1 for the voluntary alcohol consumption phenotype in mice.Kcnj10brain expression differences have been established between ethanol‐preferring C57Bl/6J and ethanol‐avoiding BALB/cJ mice, but its differential ...
Shicong B, Zou, Julia, Weng, Melissa N, Symons, Shiva M, Singh   +3 more
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Heterozygous KCNJ10 Variants Affecting Kir4.1 Channel Cause Paroxysmal Kinesigenic Dyskinesia

Movement Disorders
AbstractBackgroundMore than 60% of paroxysmal kinesigenic dyskinesia (PKD) cases are of uncertain variants.ObjectiveThe aim was to elucidate novel genetic contribution to PKD.MethodsA total of 476 probands with uncertain genetic causes were enrolled for whole‐exome sequencing.
Xiaojun Huang, Xin Fu, Jingying Wu, Xin Cheng, Xiaoqi Hong, Ziyi Li, Lan Zheng, Qing Liu, Shendi Chen, Beisha Tang, Yuwu Zhao, Xiaorong Liu, Xunhua Li, Xiaoli Liu, Zaiwei Zhou, Li Wu, Kan Fang, Ping Zhong, Mei Zhang, Xinghua Luan, Wotu Tian, Xiaoping Tong, Li Cao   +22 more
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The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel

Pflügers Archiv - European Journal of Physiology, 2011
Mutations in the K+ channel gene KCNJ10 (Kir4.1) cause the autosomal recessive EAST syndrome which is characterized by epilepsy, ataxia, sensorineural deafness, and a salt-wasting tubulopathy. The renal salt-wasting pathology of EAST syndrome is caused by transport defects in the distal convoluted tubule where KCNJ10 plays a pivotal role as a ...
Sascha, Bandulik, Katharina, Schmidt, Detlef, Bockenhauer, Anselm A, Zdebik, Evelyn, Humberg, Robert, Kleta, Richard, Warth, Markus, Reichold   +7 more
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Advances in TRP channel drug discovery: from target validation to clinical studies

Nature Reviews Drug Discovery, 2021
Ari-Pekka Koivisto, Maria G Belvisi, Rachelle Gaudet   +2 more
exaly  

KCNJ10 potassium ion channel single nucleotide polymorphism in pediatric patients with idiopathic generalized epilepsy

Neurology, Psychiatry and Brain Research, 2011
Alper Ibrahim Dai, Ali Bay, Senay Gorucu, Ercan Sivasli, Mehmet Bosnak   +4 more
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Heterologous expression of a glial Kir channel (KCNJ10) in a motoneuron cell line: a novel candidate for neuronal silencing?

Aktuelle Neurologie, 2007
J Zschüntzsch, S Ebert, C Neusch
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