Results 51 to 60 of about 217 (107)

IPGCA: A Comprehensive Single Cell Atlas of 1 074 127 Porcine Intestinal Cells Revealing Cellular Dynamics, Genetic Regulation, and Cross‐Species Conservation

open access: yesAdvanced Science, Volume 12, Issue 47, December 18, 2025.
A high resolution integrated cell atlas of the pig intestine provides insights into the genetic mechanisms of complex traits (Created in BioRender. Yu, P. (2025) https://BioRender.com/o14c563) Abstract The porcine intestinal tract is vital for nutrient absorption, immune regulation, and various physiological processes.
Pengfei Yu   +14 more
wiley   +1 more source

Functional network analysis of cardiac ion channel genes using IPA.

open access: yes, 2013
A. First network including SCN2B, KCNJ5, KCNJ8 and CACNB2 genes (network score = 11). B. Second network with CLIC2 gene (network score = 3). Color intensity is correlated with fold change, green means downregulation and red overexpression. Straight lines
Luis Martínez-Dolz (331425)   +12 more
core   +1 more source

Gain-of-function mutations in KATP channel subunits compromise colonic tight junction integrity and epithelial homeostasis in murine models of Cantú syndrome

open access: yesFrontiers in Medicine
IntroductionCantú syndrome (CS) is a rare genetic disorder caused by gain-of-function (GOF) mutations in the KCNJ8 (Kir6.1) or ABCC9 (SUR2) subunits of ATP-sensitive potassium (KATP) channels.
Fatima Maqoud   +10 more
doaj   +1 more source

Exploring the Therapeutic Potential of Antidiabetic Drugs in Cardiac Arrhythmia Management: A Drug Target Mendelian Randomization Study

open access: yesJournal of Arrhythmia, Volume 41, Issue 6, December 2025.
Mendelian randomization analyses suggest that genetic proxies for antidiabetic drug targets—KCNJ11/ABCC8, SLC5A2, and RXRB—reduce the risk of paroxysmal tachycardia (PT), right bundle branch block (RBBB), and atrial fibrillation (AF), respectively.
Zheng‐Qi Song   +7 more
wiley   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Ion channels

open access: yesBritish 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

Human iPSC‐Derived Mononuclear Phagocytes Improve Cognition and Neural Health across Multiple Mouse Models of Aging and Alzheimer's Disease

open access: yesAdvanced Science, Volume 12, Issue 41, November 6, 2025.
Short‐term intravenous treatments with iPSC‐derived mononuclear phagocytes (iMPs) improve cognitive decline and neural health in two mouse models of aging and in the 5xFAD mouse model of Alzheimer's disease. iMPs reduce levels of serum amyloid proteins that increase in aging and improve the health of hippocampal microglia and mossy cells.
V. Alexandra Moser   +11 more
wiley   +1 more source

Single‐Cell Transcriptomic Profiling of Brain Cells in Newborn Rats Following Hypoxic Ischemic Encephalopathy

open access: yesThe FASEB Journal, Volume 39, Issue 16, 31 August 2025.
This study represents the first scRNA‐seq investigation revealing cellular heterogeneity during the hyperacute (3 h), acute (2 days), and subacute (7 days) phases of neonatal hypoxic–ischemic encephalopathy (HIE). ABSTRACT Neonatal hypoxic–ischemic encephalopathy (HIE) is a severe neurological condition associated with high rates of mortality or long ...
Xianbo Chen, Xiaohong Tao, Jingyu Wang
wiley   +1 more source

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry [PDF]

open access: yes, 2019
Cantú syndrome (CS), first described in 1982, is caused by pathogenic variants in ABCC9 and KCNJ8, which encode the regulatory and pore forming subunits of ATP-sensitive potassium (KATP) channels, respectively.
Nine V. A. M. Knoers   +31 more
core   +1 more source

Towards the treatment of Cantú syndrome. Drug repurposing for rare genetic diseases

open access: yes, 2021
Individually, rare genetic diseases affect a small number of individuals. However, collectively they represent an important public health burden by impacting 8% of the EU population.
Roessler, Helen Isabel
core   +1 more source

The Utility of Notched P‐Wave on the Occurrence of Ventricular Fibrillation in Patients With Brugada Syndrome

open access: yesJournal of Arrhythmia, Volume 41, Issue 4, August 2025.
Notched P‐waves on 12‐lead ECG are significantly associated with ventricular fibrillation in Brugada syndrome, suggesting their potential relevance in identifying patients at increased arrhythmic risk. ABSTRACT Background Risk stratification for ventricular fibrillation (VF) in patients with Brugada syndrome (BrS) remains a significant clinical ...
Keisuke Yonezu   +12 more
wiley   +1 more source

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