Results 41 to 50 of about 2,246,673 (121)

Extracellular cysteine disulfide bond break at Cys122 disrupts PIP2-dependent Kir2.1 channel function and leads to arrhythmias in Andersen-Tawil Syndrome

bioRxiv, 2023
Background Andersen-Tawil Syndrome Type 1 (ATS1) is a rare heritable disease caused by mutations in the strong inwardly rectifying K+ channel Kir2.1. The extracellular Cys122-to-Cys154 disulfide bond in the Kir2.1 channel structure is crucial for proper ...
F. M. Cruz, Á. Macías, A. Moreno-Manuel, L. Gutierrez, M. L. Vera-Pedrosa, I. Martínez-Carrascoso, Patricia Sánchez Pérez, Juan Manuel Ruiz Robles, F. Bermúdez-Jiménez, Aitor Díaz-Agustín, Fernando Martínez de Benito, Salvador Arias Santiago, Aitana Braza-Boils, M. Martín-Martínez, M. Gutiérrez-Rodríguez, J. A. Bernal, E. Zorio, J. Jiménez-Jáimez, J. Jalife   +18 more
semanticscholar   +1 more source

Case report: SCN4A p.R1135H gene variant in combination with thyrotoxicosis causing hypokalemic periodic paralysis

Frontiers in Neurology, 2023
Hypokalemic periodic paralysis (HPP) is a heterogeneous group of diseases characterized by intermittent episodes of delayed paralysis of skeletal muscle with episodes of hypokalemia, caused by variants in CACNA1S or SCN4A genes, or secondary to ...
Zhi Zhang, Banghui Xiao
doaj   +1 more source

JCS/JHRS 2020 Guideline on Pharmacotherapy of Cardiac Arrhythmias

, 2022
Journal of Arrhythmia, Volume 38, Issue 6, Page 833-973, December 2022.
Katsushige Ono, Yu‐ki Iwasaki, Masaharu Akao, Takanori Ikeda, Kuniaki Ishii, Yasuya Inden, Kengo Kusano, Yoshinori Kobayashi, Yukihiro Koretsune, Tetsuo Sasano, Naokata Sumitomo, Naohiko Takahashi, Shinichi Niwano, Nobuhisa Hagiwara, Ichiro Hisatome, Tetsushi Furukawa, Haruo Honjo, Toru Maruyama, Yuji Murakawa, Masahiro Yasaka, Eiichi Watanabe, Takeshi Aiba, Mari Amino, Hideki Itoh, Hisashi Ogawa, Yasuo Okumura, Chizuko Aoki‐Kamiya, Jun Kishihara, Eitaro Kodani, Takashi Komatsu, Yusuke Sakamoto, Kazuhiro Satomi, Tsuyoshi Shiga, Tetsuji Shinohara, Atsushi Suzuki, Shinya Suzuki, Yukio Sekiguchi, Satoshi Nagase, Noriyuki Hayami, Masahide Harada, Tadashi Fujino, Takeru Makiyama, Mitsunori Maruyama, Junichiro Miake, Shota Muraji, Hiroshige Murata, Norishige Morita, Hisashi Yokoshiki, Koichiro Yoshioka, Kenji Yodogawa, Hiroshi Inoue, Ken Okumura, Takeshi Kimura, Hiroyuki Tsutsui, Wataru Shimizu, the Japanese Circulation Society and, Japanese Heart Rhythm Society Joint Working Group   +56 more
wiley   +1 more source

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

Translating cardiovascular ion channel and Ca2+ signalling mechanisms into therapeutic insights

The Journal of Physiology, EarlyView.
Abstract figure legend This white paper integrates mechanistic discoveries across ion channel biology, Ca2+ signalling and multiscale cardiovascular physiology to highlight new opportunities for accelerating research and guiding next‐generation therapies.
Silvia Marchianò, Miguel Martín‐Aragón Baudel, Charlotte E. R. Smith, Gonzalo Hernandez Hernandez, Donald M. Bers, Patrick M. Boyle, Dobromir Dobrev, Shanna Hamilton, Osama F. Harraz, Na Li, Thomas A. Longden, William E. Louch, Madeline Nieves‐Cintron, Matthew A. Nystoriak, Walter Lee Murfee, Przemysław B. Radwański, Swapnil K. Sonkusare, Manuel F. Navedo, Eleonora Grandi   +18 more
wiley   +1 more source

Chronic Propafenone Application Increases Functional K_IR2.1 Expression In Vitro

Pharmaceuticals, 2023
Expression and activity of inwardly rectifying potassium (KIR) channels within the heart are strictly regulated. KIR channels have an important role in shaping cardiac action potentials, having a limited conductance at depolarized potentials but ...
Encan Li, Willy Kool, Liset Woolschot, Marcel A. G. van der Heyden   +3 more
doaj   +1 more source

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

Exploring the perspectives and voices of students with autism on the academic adjustments they receive: A systematic review

Journal of Research in Special Educational Needs, Volume 25, Issue 4, Page 958-972, October 2025.
Abstract As the number of students with autism enrolled in general education increases, there remains a need to support their academic achievement. While much of the existing literature presents the ways that teachers can support the social, emotional or sensory needs of students with autism, research into the academic supports for school‐aged students
Aidan McKeegan, Jessica Zoe Zanuttini
wiley   +1 more source

Development of new Kir2.1 channel openers from propafenone analogues

British Journal of Pharmacology, Volume 182, Issue 3, Page 633-650, February 2025.
Background and Purposes Reduced inward rectifier potassium channel (Kir2.1) functioning is associated with heart failure and may cause Andersen‐Tawil Syndrome, among others characterized by ventricular arrhythmias. Most heart failure or Andersen–Tawil Syndrome patients are treated with β‐adrenoceptor antagonists (β‐blockers) or sodium channel blockers;
Encan Li, Najla Boujeddaine, Marien J. C. Houtman, Renee G. C. Maas, Joost P. G. Sluijter, Gerhard F. Ecker, Anna Stary‐Weinzinger, Willem B. van Ham, Marcel A. G. van der Heyden   +8 more
wiley   +1 more source

A Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1

Frontiers in Cellular Neuroscience, 2018
Inwardly rectifying potassium channels (Kir) have been historically associated to several cardiovascular disorders. In particular, loss-of-function mutations in the Kir2.1 channel have been reported in cases affected by Andersen-Tawil syndrome while gain-
Anna Binda, Ilaria Rivolta, Chiara Villa, Elisa Chisci, Massimiliano Beghi, Cesare M. Cornaggia, Roberto Giovannoni, Romina Combi   +7 more
doaj   +1 more source