Results 31 to 40 of about 3,106 (169)

Novel KCNJ10 Gene Variations Compromise Function of Inwardly Rectifying Potassium Channel 4.1

Journal of Biological Chemistry, 2016
TheKCNJ10gene encoding Kir4.1 contains numerous SNPs whose molecular effects remain unknown. We investigated the functional consequences of uncharacterized SNPs (Q212R, L166Q, and G83V) on homomeric (Kir4.1) and heteromeric (Kir4.1-Kir5.1) channel function.
Miguel P. Méndez-González, Yuriy V. Kucheryavykh, Astrid Zayas-Santiago, Wanda Vélez-Carrasco, Gerónimo Maldonado-Martínez, Luis A. Cubano, Colin G. Nichols, Serguei N. Skatchkov, Misty J. Eaton   +8 more
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GJB2 and GJB6 gene transcripts in the human cochlea: A study using RNAscope, confocal, and super-resolution structured illumination microscopy

Frontiers in Molecular Neuroscience, 2022
BackgroundGap junction (GJ) proteins, connexin26 and 30, are highly prevalent in the human cochlea (HC), where they are involved in transcellular signaling, metabolic supply, and fluid homeostasis.
Wei Liu, Helge Rask-Andersen
doaj   +1 more source

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

, 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.
Abdelhadi, O, Bockenhauer, D, Iancu, D, Kleta, R, Stanescu, H   +4 more
core   +1 more source

Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance

Human Genomics, 2019
Background Dysfunction in inwardly rectifying potassium channel Kir4.1 has been implicated in SeSAME syndrome, an autosomal-recessive (AR), rare, multi-systemic disorder.
Ravi K. Nadella, Anirudh Chellappa, Anand G. Subramaniam, Ravi Prabhakar More, Srividya Shetty, Suriya Prakash, Nikhil Ratna, V. P. Vandana, Meera Purushottam, Jitender Saini, Biju Viswanath, P. S. Bindu, Madhu Nagappa, Bhupesh Mehta, Sanjeev Jain, Ramakrishnan Kannan   +15 more
doaj   +1 more source

Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome. [PDF]

, 2016
BACKGROUND: EAST syndrome is an autosomal recessive disorder caused by loss-of-function mutations in the gene KCNJ10. Among the 14 pathogenic mutations described so far, the p.R65P mutation stands out as the most frequent one and is particularly ...
Abdelhadi, O, Bockenhauer, D, Iancu, D, Kleta, R, Stanescu, H, Tekman, M   +5 more
core   +1 more source

Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility

Molecular Brain Research, 2005
Recent genetic linkage studies have identified an association between missense variations in the gene encoding the Kir4.1 potassium channel (KCNJ10) and seizure susceptibility phenotypes in both humans and mice. The results of this study demonstrate that these variations (T262S and R271C) do not produce any observable changes in channel function or in ...
Shang, L, Lucchese, C, Haider, S, Tucker, S   +3 more
openaire   +2 more sources

Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model

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, Everett Lorraine A, Ho Lee Jun, Maganti Rajanikanth J, Jabba Sairam V, Wu Tao, Albrecht Beatrice, Itza Erin M, Wangemann Philine, Royaux Ines E, Green Eric D, Marcus Daniel C   +11 more
doaj   +1 more source

P2X6 Knockout Mice Exhibit Normal Electrolyte Homeostasis. [PDF]

PLoS ONE, 2016
ATP-mediated signaling is an important regulator of electrolyte transport in the kidney. The purinergic cation channel P2X6 has been previously localized to the distal convoluted tubule (DCT), a nephron segment important for Mg2+ and Na+ reabsorption ...
Jeroen H F de Baaij, Andreas Kompatscher, Daan H H M Viering, Caro Bos, René J M Bindels, Joost G J Hoenderop   +5 more
doaj   +1 more source

Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]

, 2013
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui, Ptáček, Louis J, Russell, Jonathan F   +2 more
core   +2 more sources

Progressive loss of a glial potassium channel (KCNJ10) in the spinal cord of the SOD1 (G93A) transgenic mouse model of amyotrophic lateral sclerosis [PDF]

Journal of Neurochemistry, 2006
AbstractTransgenic mice expressing the superoxide dismutase G93A mutation (SOD1G93A) were used to investigate the role of glial inwardly rectifying K+ (Kir)4.1 channels, which buffer extracellular K+ increases in response to neuronal excitation. A progressive decrease in Kir4.1 immunoreactivity was observed predominantly in the ventral horn of SOD1G93A
Kaiser, M., Maletzki, I., Hülsmann, S., Holtmann, B., Schulz-Schaeffer, W., Kirchhoff, F., Bähr, M., Neusch, C.   +7 more
openaire   +4 more sources