Results 161 to 170 of about 4,015 (188)

Kir4.1 channels contribute to astrocyte CO₂/H⁺-sensitivity and the drive to breathe. [PDF]

Commun Biol
Cleary CM, Browning JL, Armbruster M, Sobrinho CR, Strain ML, Jahanbani S, Soto-Perez J, Hawkins VE, Dulla CG, Olsen ML, Mulkey DK.   +10 more
europepmc   +1 more source

Candidate Key Proteins in Tinnitus-A Bioinformatic Study of Synaptic Transmission in the Inferior Colliculus. [PDF]

Int J Mol Sci
Gross J, Knipper M, Mazurek B.
europepmc   +1 more source

LRRC8/VRAC volume-regulated anion channels are crucial for hearing. [PDF]

J Biol Chem
Knecht DA, Zeziulia M, Bhavsar MB, Puchkov D, Maier H, Jentsch TJ.   +5 more
europepmc   +1 more source

Review of pharmacogenetics of antiseizure medications: focusing on genetic variants of mechanistic targets. [PDF]

Front Pharmacol
Lin CH, Ho CJ, Chen SY, Lu YT, Tsai MH.
europepmc   +1 more source

Pseudohypoparathyroidism type 1B mimicking gitelman syndrome: diagnostic pitfalls and molecular insights. [PDF]

Front Genet
Zhao Y, Mou L, Akaaboune O, Zhang J.
europepmc   +1 more source

Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants. [PDF]

Pediatr Nephrol
Vaqueiro Graña M, Madariaga L, Gómez-Conde S, Iceta Lizarraga A, Hualde Olascoaga J, Ariceta G.   +5 more
europepmc   +1 more source

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Association of KCNJ10 variants and the susceptibility to clinical epilepsy

Clinical Neurology and Neurosurgery, 2021
We first enrolled the available case-control studies to investigate the genetic association between three polymorphisms (rs1130183, rs1890532, and rs2486253) of KCNJ10 (the potassium voltage-gated channel subfamily J member 10) gene and the susceptibility towards clinical epilepsy. We utilized the meta-analysis, FPRP (false-positive report probability)
Chuan, Jiang, Lianping, Li, Mingxin, Wu, Maolin, Hao, Jianli, Feng   +4 more
openaire   +2 more sources

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
openaire   +2 more sources

Contribution of KCNJ10 Gene Polymorphisms in Childhood Epilepsy

Journal of Child Neurology, 2014
The purpose of this study was to investigate the possible association between childhood epilepsy and KCNJ10 gene polymorphisms (rs61822012 and rs2486253). A total of 200 epileptic cases and 200 healthy controls enrolled to this study. Genomic DNAs from the patients and control cases were analyzed by polymerase chain reaction (PCR) and restriction ...
Alper I, Dai, Aylin, Akcali, Safinur, Koska, Serdar, Oztuzcu, Beyhan, Cengiz, Abdullah T, Demiryürek   +5 more
openaire   +2 more sources

KCNJ10 Mutations Disrupt Function in Patients with EAST Syndrome

Nephron Physiology, 2011
<i>Background/Aims:</i> Mutations in the inwardly-rectifying K⁺ channel KCNJ10/Kir4.1 cause an autosomal recessive disorder characterized by epilepsy, ataxia, sensorineural deafness and tubulopathy (EAST syndrome). KCNJ10 is expressed in the kidney distal convoluted tubule, cochlear stria vascularis and brain glial ...
Bernard, Freudenthal, Duvaraka, Kulaveerasingam, Lokesh, Lingappa, Mehul A, Shah, Louise, Brueton, Evangeline, Wassmer, Milos, Ognjanovic, Nathalie, Dorison, Markus, Reichold, Detlef, Bockenhauer, Robert, Kleta, Anselm A, Zdebik   +11 more
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