Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome. [PDF]
Molecular Genetics & Genomic Medicine, 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 +5 more
core +4 more sources
EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10 [PDF]
Rare Diseases, 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 +4 more
core +5 more sources
Unraveling the Role of Ensheathing Cells and Perineural Fibroblasts in Olfactory Neurogenesis [PDF]
Glia, Volume 73, Issue 12, Page 2407-2426, December 2025.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)
Katja Senf +3 more
wiley +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]
Addiction Biology, Volume 31, Issue 1, January 2026.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 ...
Tyler J. Sacko +3 more
wiley +2 more sources
Tertiary lymphoid structure‐related RNA indicator as metastasis risk factor in nasopharyngeal carcinoma [PDF]
Clinical and Translational Medicine, Volume 15, Issue 12, December 2025.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
Zhaozheng Hou +16 more
wiley +2 more sources
Transgenic Tg(Kcnj10-ZsGreen) fluorescent reporter mice allow visualization of intermediate cells in the stria vascularis [PDF]
Scientific ReportsThe stria vascularis (SV) is a stratified epithelium in the lateral wall of the mammalian cochlea, responsible for both endolymphatic ion homeostasis and generation of the endocochlear potential (EP) critical for normal hearing.
Dillon Strepay +12 more
doaj +2 more sources
Association of Voltage-Gated Potassium Channel Polymorphisms with the Risk and Prognosis of Epilepsy in the Saudi Population: A Case–Control Study [PDF]
MedicinaBackground and Objectives: Epilepsy, known as an unprovoked seizure, arises from the human brain. Genetics plays a fundamental role in the development and progression of the disorder.
Mansour A. Alghamdi +7 more
doaj +2 more sources
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 +14 more
doaj +4 more sources
Neuronal THY1 Signaling Maintains Astrocytes in a Quiescent State [PDF]
Glia, Volume 74, Issue 1, January 2026.THY1‐bearing neurons keep astrocytes in a quiescent state via the interaction with ITGB1. Depletion of THY1 supports the development of a partially activated astrocyte phenotype. Neuronal THY1 is involved in the maintenance and restoration of tissue homeostasis in the brain. ABSTRACT THY1 is a cell surface protein of mature neurons.
Juliane Loui +6 more
wiley +2 more sources
Epilepsy in kcnj10 morphant zebrafish assessed with a novel method for long-term EEG recordings. [PDF]
PLoS ONE, 2013 We aimed to develop and validate a reliable method for stable long-term recordings of EEG activity in zebrafish, which is less prone to artifacts than current invasive techniques.
Anselm A Zdebik +5 more
doaj +5 more sources