Results 21 to 30 of about 1,208,260 (137)

Role of Astrocytic Inwardly Rectifying Potassium (Kir) 4.1 Channels in Epileptogenesis

Frontiers in Neurology, 2020
Astrocytes regulate potassium and glutamate homeostasis via inwardly rectifying potassium (Kir) 4.1 channels in synapses, maintaining normal neural excitability.
Masato Kinboshi, Masato Kinboshi, Akio Ikeda, Yukihiro Ohno   +3 more
doaj   +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

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

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

Novel homozygous KCNJ10 mutation in a patient with non-syndromic early-onset cerebellar ataxia

, 2018
Mutations in KCNJ10, which encodes the inwardly rectifying potassium channel Kir4.1, a primary regulator of membrane excitability and potassium homeostasis, cause a complex syndrome characterized by seizures, sensorineural deafness, ataxia, intellectual ...
Francesco Nicita, Nicita, Francesco, Vasco, Gessica, Tommaso Schirinzi, Bertini, Enrico, Enrico Bertini, Tasca, Giorgio, Ilaria Camponeschi, Ginevra Zanni, Zanni, Ginevra, Gessica Vasco, CAMPONESCHI, ILARIA, Emanuele Bellacchio, Nardella, Marta, Schirinzi, Tommaso, Marta Nardella, Giorgio Tasca, Bellacchio, Emanuele   +17 more
core   +6 more sources

Intellectual Disability and Potassium Channelopathies: A Systematic Review

Frontiers in Genetics, 2020
Intellectual disability (ID) manifests prior to adulthood as severe limitations to intellectual function and adaptive behavior. The role of potassium channelopathies in ID is poorly understood.
Miriam Kessi, Miriam Kessi, Miriam Kessi, Miriam Kessi, Baiyu Chen, Baiyu Chen, Jing Peng, Jing Peng, Yulin Tang, Yulin Tang, Eleonore Olatoutou, Eleonore Olatoutou, Fang He, Fang He, Lifen Yang, Lifen Yang, Fei Yin, Fei Yin   +17 more
doaj   +1 more source

A Homozygous KCNJ10 Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both

Journal of Veterinary Internal Medicine, 2014
Background Juvenile‐onset spinocerebellar ataxia has been recognized in Jack Russell Terriers and related Russell group terriers (RGTs) for over 40 years.
D. Gilliam, D.P. O'Brien, J.R. Coates, G.S. Johnson, G.C. Johnson, T. Mhlanga‐Mutangadura, L. Hansen, J.F. Taylor, R.D. Schnabel   +8 more
doaj   +1 more source

Role of potassium channel Kir4.1(KCNJ10) in the wound healing of human corneal epithelial cells [PDF]

, 2013
Thesis (M.A.)--Boston UniversityThe cornea, which is key to maintaining our normal vision by refracting light onto the lens and retina, as well as serving as a physical barrier to protect our eyes from the environment, contains epithelium tissue with one
Wang, Kemeng
core   +1 more source

Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child with mutations: A case report

SAGE Open Medical Case Reports, 2017
Background: Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome is a multi-organ disorder that links to autosomal recessive mutations in the KCNJ10 gene, which encodes for the Kir4.1 potassium channel. It is mostly described in consanguineous,
Antigone Papavasiliou, Katerina Foska, John Ioannou, Mato Nagel   +3 more
doaj   +1 more source

Proestrus Differentially Regulates Expression of Ion Channel and Calcium Homeostasis Genes in GnRH Neurons of Mice

Frontiers in Molecular Neuroscience, 2019
In proestrus, the changing gonadal hormone milieu alters the physiological properties of GnRH neurons and contributes to the development of the GnRH surge.
Csaba Vastagh, Norbert Solymosi, Imre Farkas, Zsolt Liposits, Zsolt Liposits   +4 more
doaj   +1 more source