Results 11 to 20 of about 3,106 (169)

Novel KCNJ10 Compound Heterozygous Mutations Causing EAST/SeSAME-Like Syndrome Compromise Potassium Channel Function [PDF]

Frontiers in Genetics, 2019
Inwardly rectifying K+ channel 4.1 (Kir4.1), encoded by KCNJ10, is a member of the inwardly rectifying potassium channel family. In the brain, Kir4.1 is predominant in astrocytic glia and accounts for the spatial buffering of K+ released by neurons ...
Hongfeng Zhang, Lin Zhu, Fengpeng Wang, Ruimin Wang, Yujuan Hong, Yangqin Chen, Bin Zhu, Yue Gao, Hong Luo, Xian Zhang, Hao Sun, Ying Zhou, Yi Yao, Yi Yao, Xin Wang   +14 more
doaj   +4 more sources

Unraveling the Role of Ensheathing Cells and Perineural Fibroblasts in Olfactory Neurogenesis. [PDF]

Glia
Main Points DEOs are similar to satellite glial cells. DECs react to neuronal injury by promoting lipid metabolism, but do not proliferate. ECs reduce gap junctions upon neuronal injury. Perineural fibroblasts also contribute to the injury response. ABSTRACT During development and following injury‐induced neurogenesis, olfactory ensheathing cells (OECs)
Senf K, Nietzsche S, Westermann M, Neuhaus EM.   +3 more
europepmc   +2 more sources

The Selective Bromodomain and Extra-Terminal Domain (BET) Inhibitor RVX-208 Reduces Cocaine-Seeking Behaviour and Alters Proteomic Pathways in the Nucleus Accumbens. [PDF]

Addict Biol
Rats treated with the domain‐selective BET inhibitor RVX‐208 during a 2‐week forced abstinence period exhibited a reduction in cocaine‐seeking behaviour but not sucrose seeking or open field behaviour. This treatment effect was associated with proteomic changes in pathways relevant to dopaminergic and glutamatergic signalling in the nucleus accumbens ...
Sacko TJ, Seyednejad A, Engelhardt J, Sartor GC.   +3 more
europepmc   +2 more sources

Juvenile Dystonia Associated with Heterozygous Missense Variant in KCNJ10. [PDF]

Mov Disord
Movement Disorders, Volume 40, Issue 8, Page 1748-1749, August 2025.
de de Gusmao CM, Casagrande SCB, Castro MA, Pessoa A, Rodrigues CL, Silveira Moriyama L, Kok F, Nóbrega PR.   +7 more
europepmc   +2 more sources

Activation of Kir4.1 Channels by 2-D08 Promotes Myelin Repair in Multiple Sclerosis. [PDF]

Adv Sci (Weinh)
Multiple sclerosis causes myelin loss and neurological dysfunction. This study shows that 2‐D08, a small molecule targeting Kir4.1 channels, promotes OPCs differentiation via FYN tyrosine kinase phosphorylation and the FYN/MYRF pathway. It significantly improves myelin repair and motor deficits in EAE mice and marmosets, highlighting its potential as a
Liu M, Jin S, Fu X, Xie C, Chen Y, Chang L, Fan Y, He D, Hong X, Shen X, Zheng X, Wang Q, Shi D, Li F, Ling D, Guan Y, Gong N, Tong X.   +17 more
europepmc   +2 more sources

Tertiary lymphoid structure-related RNA indicator as metastasis risk factor in nasopharyngeal carcinoma. [PDF]

Clin Transl Med
We established a robust predictive model for nasopharyngeal carcinoma (NPC) distant metastasis using RNA markers. When combined with clinical parameters, our RNA‐based risk score significantly improved the area under the curve to 90.4%. This study revealed that tertiary lymphoid structure formation may be associated with lower NPC metastasis risk after
Hou Z, Feng P, Chiang CL, Islam KA, Liu S, Wang Y, Zhang Y, Chung MK, Kam NW, Huang Z, Lee VH, Lee AW, Kwong DL, Ng WT, Wong JWH, Xia Y, Dai W.   +16 more
europepmc   +2 more sources

Implication of intracellular chloride channel in extracellular matrix remodeling in pressure-overloaded mice and patients with dilated cardiomyopathy. [PDF]

Physiol Rep
Abstract Chloride intracellular channels (CLICs) are important in cardiac cellular physiology. We aimed to determine the pathophysiological roles of CLICs in the heart. For this, we analyzed CLIC expression in cardiomyocytes in a mouse transverse aortic constriction (TAC) model to induce cardiac hypertrophy and failure, as well as in ventricular ...
Oguri G, Nomura S, Nakajima T, Kikuchi H, Obi S, Komuro I, Takeda N, Toyoda S, Nakajima T.   +8 more
europepmc   +2 more sources

Novel Pathogenic Genotype in SLC12A3 Associated to Gitelman Syndrome: A Case Report. [PDF]

Nephrology (Carlton)
ABSTRACT Gitelman syndrome (GS) is considered one of the most common hereditary renal tubular disorders, characterised by hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. The primary cause of this disorder resides in the SLC12A3 gene, which encodes the NaCl cotransporter in the distal convoluted tubule, and for which more than 500 ...
Tomás-Simó P, Sierra-Rivera A, Checa-Ros A, Rodríguez-López R, Galán-Serrano A, D'Marco L.   +5 more
europepmc   +2 more sources

Aglycosylated extracellular loop of inwardly rectifying potassium channel 4.1 (KCNJ10) provides a target for autoimmune neuroinflammation

Brain Communications, 2023
AbstractMultiple sclerosis is an autoimmune disease of the central nervous system. Yet, the autoimmune targets are still undefined. The extracellular e1 sequence of KCNJ10, the inwardly rectifying potassium channel 4.1, has been subject to fierce debate for its role as a candidate autoantigen in multiple sclerosis. Inwardly rectifying potassium channel
Nicot, Arnaud, Harb, Jean, Garcia, Alexandra, Guillot, Flora, Mai, Hoa-Le, Mathé, Camille, Morille, Jérémy, Vallino, Amélie, Dugast, Emilie, Shah, Sita, Lefrère, Fabienne, Doyon, Melinda, Wiertlewski, Sandrine, Le Berre, Ludmilla, Renaudin, Karine, Soulillou, Jean-Paul, van Pesch, Vincent, Brouard, Sophie, Berthelot, Laureline, Laplaud, David-Axel   +19 more
openaire   +4 more sources

KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function [PDF]

Proceedings of the National Academy of Sciences, 2010
Mutations of the KCNJ10 ( Kir4.1 ) K + channel underlie autosomal recessive epilepsy, ataxia, sensorineural deafness, and (a salt-wasting) renal tubulopathy (EAST) syndrome.
Markus, Reichold, Anselm A, Zdebik, Evelyn, Lieberer, Markus, Rapedius, Katharina, Schmidt, Sascha, Bandulik, Christina, Sterner, Ines, Tegtmeier, David, Penton, Thomas, Baukrowitz, Sally-Anne, Hulton, Ralph, Witzgall, Bruria, Ben-Zeev, Alexander J, Howie, Robert, Kleta, Detlef, Bockenhauer, Richard, Warth   +16 more
openaire   +2 more sources