Results 51 to 60 of about 3,106 (169)

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

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

Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.

PLoS ONE, 2016
The goals are to understand the primary genetic mechanisms that cause Sick Sinus Syndrome and to identify potential modifiers that may result in intrafamilial variability within a multigenerational family.
Michael V Zaragoza, Lianna Fung, Ember Jensen, Frances Oh, Katherine Cung, Linda A McCarthy, Christine K Tran, Van Hoang, Simin A Hakim, Anna Grosberg   +9 more
doaj   +1 more source

Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]

, 2018
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core   +1 more source

Src‐family protein tyrosine kinase (SFK) stimulates KCNJ10 K channels in the basolateral membrane of distal convoluted tubules (DCT).

The FASEB Journal, 2013
The basolateral K channels in the DCT are composed of KCNJ10 and KCNJ16. Since KCNJ10 have several SFK‐consensus phosphorylation sites (Tyr 8, 9, 51 & 349), we tested the role of tyrosine phosphorylation in regulating KCNJ10. The patch‐clamp experiments were performed in HEK cells transfected with GFP‐tagged KCNJ10 and in the mouse DCT1 ...
Wen‐Hui Wang, Cheng‐Biao Zhang, Dao‐Hong Lin, Peng Yue, Lijun Wang, Jesse Rinehart   +5 more
openaire   +1 more source

Discovery of a Novel and Potent Kir4.1 Inhibitor as a Safe and Rapid‐Onset Antidepressant Agent in Mice

Advanced Science, Volume 13, Issue 9, 13 February 2026.
The preferred derivative JX3212 demonstrates strong inhibitory activity against Kir4.1 with favorable druggability and shows significant antidepressant efficacy in vivo. Abstract Major depressive disorder is a serious psychiatric disorder for which novel and fast‐acting antidepressants are required.
Sisi Wang, Xiaoyu Zhou, Mengdan Li, Chao Zhang, Haiyan Xu, Jingyi He, Li Zhan, Yueling Gu, Hao Gu, Tianyu Tu, Hanfang Liu, Taotao Lu, Yueming Zheng, Jian Li, Zhaobing Gao, Yixiang Xu   +15 more
wiley   +1 more source

Expressional analysis of the astrocytic Kir4.1 channel in a pilocarpine-induced temporal lobe epilepsy model

Frontiers in Cellular Neuroscience, 2013
The inwardly-rectifying potassium (Kir) channel Kir4.1 in brain astrocytes mediates spatial K+ buffering and regulates neural activities. Recent studies have shown that loss-of-function mutations in the human gene KCNJ10 encoding Kir4.1 cause epileptic ...
Yuki eNagao, Yuya eHarada, Takahiro eMukai, Saki eShimizu, Aoi eOkuda, Megumi eFujimoto, Asuka eOno, Yoshihisa eSakagami, Yukihiro eOhno   +8 more
doaj   +1 more source

The emerging role of the inwardly rectifying K+ channels in autism spectrum disorders and epilepsy [PDF]

, 2011
Autism is a complex behavioral disorder that develops prior to age three years and is distinguished by high heritability. Many genes predisposing to autism spectrum disorders (ASDs) have been identified.
D’Adamo, Maria Cristina, Imbrici, Paola, Martino, Dianda, Moro, Francesca, Pessia, Mauro, Roscini, Mauro, Santorelli, Filippo Maria, Sicca, Federico   +7 more
core  

Neuron-oligodendrocyte potassium shuttling at nodes of Ranvier protects against [PDF]

, 2023
Multiple sclerosis (MS) is a progressive inflammatory demyelinating disease of the CNS. Increasing evidence suggests that vulnerable neurons in MS exhibit fatal metabolic exhaustion over time, a phenomenon hypothesized to be caused by chronic ...
Acuna, Claudio, Budde, Thomas, Calabresi, Peter A., Campos, Joaquin, Cerina, Manuela, Chavali, Manideep, Cordano, Christian, Cruz-Herranz, Andres, D'Este, Elisa, Delank, Anna, Disse, Paul, Dyckow, Julia, Engelhardt, Maren, Fazio, Luca, Fitzgerald, Kathryn C., Friese, Manuel A., Gharagozloo, Marjan, Green, Ari J., Heidenreich, Matthias, Hemmer, Bernhard, Jentsch, Thomas J., Kapell, Hannah, Lerma-Martin, Celia, Mayer, Christina, Meuth, Seven G., Moebius, Wiebke, Muentefering, Thomas, Naik, Venu Narayanan, Nave, Klaus-Armin, Platten, Michael, Probstel, Anne-Katrin, Rowitch, David H., Rychlik, Nicole, Sabeur, Khalida, Schirmer, Lucas, Schwarz, Sophia, Seebohm, Guiscard, Sin, Jung Hyung, Sonner, Jana K., Srivastava, Rajneesh, Stadelmann, Christine, Zulji, Amel   +41 more
core   +1 more source