Results 71 to 80 of about 4,015 (188)

Optical mapping of neuronal activity during seizures in zebrafish [PDF]

, 2017
Mapping neuronal activity during the onset and propagation of epileptic seizures can provide a better understanding of the mechanisms underlying this pathology and improve our approaches to the development of new drugs.
Fornetto, C, M\ufcllenbroich, M. C, Mannaioni, G, Marchetto, Giulia, Masi, A, Pavone, F. S, Resta, F, Tiso, Natascia, Turrini, L, Vanzi, F., Vettori, Andrea   +10 more
core   +3 more sources

Single‐Nucleus Transcriptomics Uncovers Xaf1‐Driven PANoptosis as a Therapeutic Target in Aminoglycoside‐Induced Hearing Loss

Cell Proliferation, Volume 59, Issue 1, January 2026.
Neomycin induces increased expression of Xaf1 in cochlear HCs, triggering PANoptosis, which encompasses pyroptosis, apoptosis and necroptosis (left). Targeted Xaf1 knockdown in HCs through gene therapy can significantly inhibit the occurrence of PANoptosis in HCs (right).
Xinlin Wang, Hairong Xiao, Jiheng Wu, Yanqin Lin, Yiheng Ao, Zixuan Ye, Xin Tan, Fanliang Kong, Xin Chen, Renjie Chai, Shasha Zhang   +10 more
wiley   +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

Protein-protein interactions network model underlines a link between hormonal and neurological disorders

Informatics in Medicine Unlocked, 2022
Gland and Hormonal Diseases (GHDs) constitute a class of non-communicable diseases that primarily results from either excessive or reduced secretion of hormones. Many of these diseases also have neurological manifestations.
Mohammad Uzzal Hossain, Ishtiaque Ahammad, Arittra Bhattacharjee, Zeshan Mahmud Chowdhury, Anisur Rahman, Tahia Anan Rahman, Taimur Md Omar, Mohammad Kamrul Hasan, Md Nazrul Islam, Md Tabassum Hossain Emon, Keshob Chandra Das, Chaman Ara Keya, Md Salimullah   +12 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

Implication of intracellular chloride channel in extracellular matrix remodeling in pressure‐overloaded mice and patients with dilated cardiomyopathy

Physiological Reports, Volume 14, Issue 1, January 2026.
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 ...
Gaku Oguri, Seitaro Nomura, Takafumi Nakajima, Hironobu Kikuchi, Syotaro Obi, Issei Komuro, Norihiko Takeda, Shigeru Toyoda, Toshiaki Nakajima   +8 more
wiley   +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, Volume 12, Issue 12, Page 2558-2568, December 2025.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

Functional Characterization of Mutations in Kir4.1 (KCNJ10) Associated with the SeSAME Syndrome [PDF]

Biophysical Journal, 2010
Kir4.1 channels are expressed in many brain cells, particularly astrocytes, and may be responsible for the K+ buffering action of the glia (J Biol Chem 270: 16339-46, 1995). In addition, Kir4.1 channels are found in the basolateral membrane of distal convoluted tubule cells, where they contribute to renal electrolyte homeostasis.
Sala-Rabanal, Monica, Eaton, Misty J., Nichols, Colin G.   +2 more
openaire   +1 more source

Endogenous Retrovirus Insertion in the KIT Oncogene Determines White and White spotting in Domestic Cats [PDF]

, 2014
The Dominant White locus (W) in the domestic cat demonstrates pleiotropic effects exhibiting complete penetrance for absence of coat pigmentation and incomplete penetrance for deafness and iris hypopigmentation.
Connelly, Catherine J., Coots Wallace, Andrea, David, Victor A., Eizirik, Eduardo, Hannah, Steven S., Kehler, James, Leighty, Robert, Menotti-Raymond, Marilyn, Nelson, George, O\u27Brien, Stephen J., Roelke, Melody E., Ryugo, David K., Schaffer, Alejandro A.   +12 more
core   +2 more sources

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
openaire   +2 more sources