Results 61 to 70 of about 3,487 (142)

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. [PDF]

PLoS ONE, 2015
The use of next-generation sequencing enables a rapid analysis of many genes associated with sudden cardiac death in diseases like Brugada Syndrome. Genetic variation is identified and associated with 30-35% of cases of Brugada Syndrome, with nearly 20 ...
Catarina Allegue, Mònica Coll, Jesus Mates, Oscar Campuzano, Anna Iglesias, Beatriz Sobrino, Maria Brion, Jorge Amigo, Angel Carracedo, Pedro Brugada, Josep Brugada, Ramon Brugada   +11 more
doaj   +1 more source

Role of SLC16A10 in Psoriasis Through the Regulation of Arachidonic Acid Metabolism in Keratinocytes

Advanced Science, Volume 12, Issue 39, October 20, 2025.
This study demonstrates that SLC16A10 plays a crucial role in psoriasis pathogenesis through arachidonic acid metabolism regulation in keratinocytes. Using multi‐omics analysis and experimental validation, researchers identify SLC16A10 as both a diagnostic biomarker and therapeutic target.
Jingyuan Yang, Yixuan Chen, Bowei Li, Shuang Wu, Hang Liang, Xingyue Yang, Xiaozhen Li, Ping Sun, Guangjin Guo, Ting Li, Yuying Jia, Haijiao Li, Mengqi Bai, Jie Xu, Zhijie Liu, Wei Liu, Xiangkang Jiang, Hong Cai   +17 more
wiley   +1 more source

Atrial Fibroblasts‐Derived Extracellular Vesicles Exacerbate Atrial Arrhythmogenesis

Advanced Science, Volume 12, Issue 37, October 6, 2025.
Exosome miR‐224‐5p derived from angiotensin II‐treated atrial fibroblasts creates a substrate for AF by promoting atrial electrical remodeling. Increased exosome miR‐224‐5p enhances AF susceptibility by inhibiting CACNA1c expression and decreasing ICa current of atrial cardiomyocytes.
Yue Yuan, Xinbo Zhao, Xuejie Han, Yukai Cao, Xuexin Jin, Ling Shi, Xin Bi, Desheng Li, Yun Zhang, Wenbo Ma, Jiahui Song, Zhenwei Pan, Zhiren Zhang, Yue Li   +13 more
wiley   +1 more source

Multiple Promoter Elements Interact to Control the Transcription of the Potassium Channel Gene, KCNJ2 [PDF]

Journal of Biological Chemistry, 1998
Potassium channels play important roles in shaping the electrical properties of excitable cells. Toward understanding the transcriptional regulation of a member of the inwardly rectifying potassium channel family, we have characterized the genomic structure and 5'-proximal promoter of the murine Kcnj2 gene (also referred to as IRK1 and Kir2.1).
J B, Redell, B L, Tempel
openaire   +2 more sources

Hyperthyroid Hypokalemic Periodic Paralysis in a Nepali Male; A Case Report

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Hyperthyroid Hypokalemic Periodic Paralysis (HHPP), marked by acute weakness and hypokalemia. Prompt potassium replacement and hyperthyroidism management are essential to prevent life‐threatening outcomes. This case highlights its presentation in a Nepali male, reinforcing the need for high clinical suspicion.
Ashish Tamang, Prakash Sapkota, Sankalpa Humagain, Kemisha Dhakal, Chhavi Sachdeva, Deshant Shah, Prakriti Lamsal   +6 more
wiley   +1 more source

Andersen–Tawil Syndrome Is Associated With Impaired PIP2 Regulation of the Potassium Channel Kir2.1

Frontiers in Pharmacology, 2020
Andersen–Tawil syndrome (ATS) type-1 is associated with loss-of-function mutations in KCNJ2 gene. KCNJ2 encodes the tetrameric inward-rectifier potassium channel Kir2.1, important to the resting phase of the cardiac action potential.
Reem Handklo-Jamal, Eshcar Meisel, Eshcar Meisel, Daniel Yakubovich, Daniel Yakubovich, Leonid Vysochek, Roy Beinart, Roy Beinart, Michael Glikson, Michael Glikson, Julie R. McMullen, Nathan Dascal, Eyal Nof, Eyal Nof, Shimrit Oz, Shimrit Oz   +15 more
doaj   +1 more source

Heart Regeneration and Repair: Molecular Mechanism and Therapeutic Targets

MedComm, Volume 6, Issue 10, October 2025.
Regarding the general picture of heart regeneration therapy, it encompasses exogenous cell therapy, endogenous medications, metabolism, interventions in gene pathways, as well as the therapeutic strategies in the burgeoning interdisciplinary field of medicine and engineering in recent years.
Mingchuan Liu, Tingwei Peng, Rui Yu, Kexin Wang, Di Wang, Xiaojie Jia, Yan Zhang, Jianqiang Hu, Bingchao Qi, Yan Li   +9 more
wiley   +1 more source

Inhibition of Phosphodiesterase 10A by MP‐10 Rescues Behavioral Deficits and Normalizes Microglial Morphology and Synaptic Pruning in A Mouse Model of FOXP1 Syndrome

Advanced Science, Volume 12, Issue 36, September 25, 2025.
We demonstrate that Foxp1± mice, modeling FOXP1 haploinsufficiency, exhibit behavioral deficits, striatal neuroinflammatory changes including altered microglial complexity and synaptic pruning, and markedly reduced Pde10a expression. Pde10a inhibition starting immediately after birth restores Foxp1± behavior, microglial morphology, and pruning ...
Henning Fröhlich, Jing Wang, Ferdinand Althammer, Tim Schubert, Nina Kluck, Valery Grinevich, Stefanie Schmitteckert, Christian P. Schaaf, Gudrun A. Rappold   +8 more
wiley   +1 more source

3D Genome Architecture in Stem Cell Lineage Commitment: from Structural Organization to Precision Regulation

Advanced Genetics, Volume 6, Issue 3, September 2025.
The article explores how the 3D structure of DNA governs stem cell fate. Key architectural elements and advanced tools are described revealing dynamic genome organization. The work links spatial genome changes to precise gene control during cell differentiation.
Yanchi He, Wenrui Li, Lin Li, Ying Yang, Yutong Lu, Yufei Pan, Qing Wang, Yuqiang Sun, Yuxuan Xie, Mingyue Wu, Peng Luo, Wansu Sun, Hengguo Zhang   +12 more
wiley   +1 more source

Markedly reduced ventricular arrhythmia during the peripartum period in a pregnant woman with Andersen-Tawil syndrome

Journal of Arrhythmia, 2012
Andersen-Tawil syndrome (ATS), also known as long QT syndrome type 7, is a rare autosomal dominant disease caused by a KCNJ2 mutation. The characteristic triad of ATS is periodic paralysis, dysmorphic features, and ventricular arrhythmia.
Chizuko A. Kamiya, Wataru Shimizu, Yoshinari Kabayashi, Takekazu Miyoshi, Chinami Horiuchi, Takashi Umekawa, Kaoru Yamanaka, Reiko Neki, Shinji Katsuragi, Jun Yoshimatsu, Tomoaki Ikeda   +10 more
doaj   +1 more source