Results 81 to 90 of about 4,015 (188)

Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4 -/- mouse

BMC Medical Genomics, 2023
Background The primary pathological alterations of Pendred syndrome are endolymphatic pH acidification and luminal enlargement of the inner ear. However, the molecular contributions of specific cell types remain poorly characterized.
Jin-Young Koh, Corentin Affortit, Paul T. Ranum, Cody West, William D. Walls, Hidekane Yoshimura, Jian Q. Shao, Brian Mostaert, Richard J.H. Smith   +8 more
doaj   +1 more source

Selective Deletion of NBCe1 in Reactive Astrocytes Attenuates Ischemic Stroke Brain Damage

Glia, Volume 73, Issue 12, Page 2386-2406, December 2025.
Main Points NBCe1 is upregulated in reactive astrocytes following ischemic stroke. Deletion of astrocytic Nboe1 reduces stroke volume, preserves AQP4 polarization, reduces BBB permeability, and improves neurological function after ischemic stroke. ABSTRACT The electrogenic sodium bicarbonate transporter 1 (NBCe1/Slc4a4), predominantly expressed in ...
Okan Capuk, Elise Berthold, Kathiravan Kaliyappan, Mansi Avunoori, Rajesh Muduganti, Sanjana Krishna, Shamseldin Metwally, Mary McFarland, Shanshan Song, Victoria Fiesler, Sydney Fischer, Lesley M. Foley, T. Kevin Hitchens, Susannah Waxman, Ian A. Sigal, Shefeeq M. Theparambil, Gulnaz Begum   +16 more
wiley   +1 more source

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

Differential miRNA expression profiling reveals miR-205-3p to be a potential radiosensitizer for low- dose ionizing radiation in DLD-1 cells [PDF]

, 2018
Indexación: Scopus.Departamento de Oncología Básico-Clínica, Facultad de Medicina, Universidad de Chile, Santiago, Chile 2Comisión Chilena de Energía Nuclear, Santiago, Chile 3Center for Research and Applications in Plasma Physics and Pulsed Power, P4 ...
Andaur, R., Armisen, R., Marcelain, K., Moreno, J., Soto, L., Tapia, J.C.   +5 more
core   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Ion channels

British Journal of Pharmacology, Volume 182, Issue S1, Page S152-S241, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Jörg Striessnig, Alasdair J. Gibb, Alistair A. Mathie, Emma L. Veale, Eamonn Kelly, Chloe J. Peach, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Richard W. Aldrich, Bernard Attali, Austin M. Baggetta, Elvir Becirovic, David J. Beech, Martin Biel, Roslyn M. Bill, Ana I. Caceres, William A. Catterall, Han Chow Chua, Alex C. Conner, Henry Danahay, Paul Davies, Katrien De Clerq, Markus Delling, Francesco Di Virgilio, Simonetta Falzoni, Wei Fang, Stefanie Fenske, Anna Fortuny‐Gomez, Samuel Fountain, George K. Chandy, Mohammad‐Reza Ghovanloo, Steve A. N. Goldstein, Martin Gosling, Christian Grimm, Stephan Grissmer, Kotdaji Ha, Tim G. Hales, Verena Hammelmann, Israel Hanukoglu, Meiqin Hu, Ad P. Ijzerman, Sairam V. Jabba, Mike Jarvis, Anders A. Jensen, Sven E. Jordt, Leonard K. Kaczmarek, Stephan Kellenberger, Charles Kennedy, Brian King, Philip Kitchen, Qiang Liu, Joseph W. Lynch, Rian W. Manville, Jessica Meades, Verena Mehlfeld, Annette Nicke, Stefan Offermanns, Edward Pérez‐Reyes, Leigh D. Plant, Stephan A. Pless, Lachlan D. Rash, Dejian Ren, Hussein N. Rubaiy, Mootaz M. Salman, Werner Sieghart, Lucia G. Sivilotti, Trevor G. Smart, Terrance P. Snutch, Paolo Tammaro, Jinbin Tian, James S. Trimmer, Charlotte Van den Eynde, Paola Vergani, Joris Vriens, Stephen G. Waxman, Aguan D. Wei, Brenda T. Winn, Heike Wulff, Haoxing Xu, Fan Yang, Lixia Yue, Xiaoli Zhang, Michael Zhu   +86 more
wiley   +1 more source

Deciphering SCN2A: A comprehensive review of rodent models of Scn2a dysfunction

Epilepsia, Volume 66, Issue 12, Page 4624-4638, December 2025.
Abstract SCN2A encodes for the alpha subunit of the voltage‐gated sodium channel NaV1.2, which is involved in action potential initiation and backpropagation in excitatory neurons. Currently, it is one of the highest monogenetic risk factors for both epilepsy and autism spectrum disorder.
Katelin E. J. Scott, Maria Fernanda Hermosillo Arrieta, Aislinn J. Williams   +2 more
wiley   +1 more source

Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility

Molecular Brain Research, 2005
Recent genetic linkage studies have identified an association between missense variations in the gene encoding the Kir4.1 potassium channel (KCNJ10) and seizure susceptibility phenotypes in both humans and mice. The results of this study demonstrate that these variations (T262S and R271C) do not produce any observable changes in channel function or in ...
Shang, L, Lucchese, C, Haider, S, Tucker, S   +3 more
openaire   +2 more sources

Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear

Disease Models & Mechanisms, 2013
SUMMARY Mutations in the ATP6V0A4 gene lead to autosomal recessive distal renal tubular acidosis in patients, who often show sensorineural hearing impairment. A first Atp6v0a4 knockout mouse model that recapitulates the loss of H+-ATPase function seen in
Beatriz Lorente-Cánovas, Neil Ingham, Elizabeth E. Norgett, Zoe J. Golder, Fiona E. Karet Frankl, Karen P. Steel   +5 more
doaj   +1 more source

Genetic variation in the Nr1d1 transcription factor binding site shapes metabolism‐related protein networks associated with cognitive resilience in an Alzheimer's disease mouse reference panel

Alzheimer's &Dementia, Volume 21, Issue 11, November 2025.
Abstract INTRODUCTION Our previous work established the AD‐BXD mouse panel as an innovative model for studying the genetic complexity and heterogeneity underlying Alzheimer's disease (AD). In this study, we leveraged this model and proteomics approach to identify protein signatures linked to cognitive resilience in AD.
Yu Chen, Tamara K. Stevenson, Yiding Cao, Lauren A. Fish, Julia E. Robbins, Gennifer E. Merrihew, Jea Park, Timothy J. Hohman, Michael J. MacCoss, Catherine C. Kaczorowski   +9 more
wiley   +1 more source

Targeting Histone H3K9 Methyltransferase G9a as a Potential Therapeutic Strategy for Neuropsychiatric Disorders

Medicinal Research Reviews, Volume 45, Issue 6, Page 1547-1563, November 2025.
ABSTRACT Neuropsychiatric disorders present a multifaceted challenge, characterized by cognitive, social, and motor impairments with manifold underlying mechanisms. Recent attention has turned to epigenetic mechanisms, particularly histone lysine methyltransferases (HKMTs), such as G9a, in understanding fundamental pathogenesis.
Malak Hajar, Tobias Werner, Mihajlo Gajic, Holger Stark, Bassem Sadek   +4 more
wiley   +1 more source