Results 51 to 60 of about 3,487 (142)
Astrocytic TCF7L2 Impacts Brain Osmoregulation and Restricts Neuronal Excitability
Glia, Volume 74, Issue 2, February 2026.Astrocytic TCF7L2 impacts extracellular glutamate and glutamine levels. Loss of astrocytic TCF7L2 disrupts extracellular potassium clearance. TCF7L2‐dependent astrocytic changes reduce neuronal excitability. ABSTRACT Astrocytes differentiate and mature during postnatal development, but the molecular mechanisms linking their maturation to neuronal ...
Mariusz Popek +10 more
wiley +1 more source
Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome [PDF]
Channels, 2011 Andersen-Tawil syndrome is characterized by periodic paralysis, ventricular ectopy, and dysmorphic features. Approximately 60% of patients exhibit loss-of-function mutations in KCNJ2, which encodes the inwardly rectifying K(+) channel pore forming subunit Kir2.1.
Marrus, Scott B +3 more
openaire +3 more sources
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 +8 more
wiley +1 more source
Molecular Genetics & Genomic Medicine, 2019 Background Atrial fibrillation (AF) is one of the common arrhythmia in clinics. Its incidence is high among the elderly. This study aimed to identify a possible connection between ion channel‐related gene polymorphisms and the risk of AF. Methods A total
Xiumin Liu +5 more
doaj +1 more source
PLoS Genetics, 2012 Genome-wide association studies have identified numerous genetic loci for spirometic measures of pulmonary function, forced expiratory volume in one second (FEV(1)), and its ratio to forced vital capacity (FEV(1)/FVC).
Dana B Hancock +89 more
doaj +1 more source
Functional dissection of the Sox9–Kcnj2 locus identifies nonessential and instructive roles of TAD architecture [PDF]
Nature Genetics, 2019 The genome is organized in three-dimensional units called topologically associating domains (TADs), through a process dependent on the cooperative action of cohesin and the DNA-binding factor CTCF. Genomic rearrangements of TADs have been shown to cause gene misexpression and disease, but genome-wide depletion of CTCF has no drastic effects on ...
Alexandra Despang +11 more
openaire +4 more sources
The FASEB Journal, Volume 39, Issue 23, 15 December 2025.Hibernating mammals preserve satellite cell viability during extreme cold exposure by suppressing ferroptosis through elevated GPX4 expression. Although these cells survive cold stress, myogenic activation and differentiation are markedly reduced, leading to delayed muscle regeneration in vivo.
Tatsuya Miyaji +12 more
wiley +1 more source
F1000Research, 2017 In 1977, Frederick Sanger developed a new method for DNA sequencing based on the chain termination method, now known as the Sanger sequencing method (SSM).
Armando Totomoch-Serra +2 more
doaj +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 +86 more
wiley +1 more source
A 17q24.3 duplication identified in a large Chinese family with brachydactyly‐anonychia
Molecular Genetics & Genomic Medicine, 2020 Background Brachydactyly (BD) is a rare autosomal dominant inherited disease characterized by shortness of the fingers and/or toes, which has been classified into the subtypes A–E.
Mohan Liu +3 more
doaj +1 more source