Results 1 to 10 of about 1,940 (148)

Genetic screening of KCNJ8 in Japanese patients with J‐wave syndromes or idiopathic ventricular fibrillation [PDF]

Journal of Arrhythmia, 2013
Background: J-point elevation has been demonstrated to be associated with ventricular fibrillation (VF) and has been proposed as a cause of the J-wave syndrome (JWS). A mutation of KCNJ8, S422L, was reported as a culprit gene.

exaly   +26 more sources

Electrophysiological analyses of transgenic mice overexpressing KCNJ8 with S422L mutation in cardiomyocytes [PDF]

Journal of Pharmacological Sciences, 2017
Genetic analysis of KCNJ8 has pointed a mutation (S422L) as a susceptible link to J wave syndrome (JWS). In vitro expression study indicated that the ATP-sensitive K+ (KATP) channel with the S422L mutation has the gain-of-function with reduced ...
Yasuhiro Watanabe, Akio Matsumoto, Takashi Miki, Susumu Seino, Naohiko Anzai, Haruaki Nakaya   +5 more
doaj   +4 more sources

Kir6.1, a component of an ATP-sensitive potassium channel, regulates natural killer cell development [PDF]

Frontiers in Immunology
IntroductionInvolved in immunity and reproduction, natural killer (NK) cells offer opportunities to develop new immunotherapies to treat infections and cancer or to alleviate pregnancy complications. Most current strategies use cytokines or antibodies to
Natalie Samper, Lilja Hardardottir, Delphine M. Depierreux, Soomin C. Song, Ayano Nakazawa, Ivan Gando, Tomoe Y. Nakamura, Andrew M. Sharkey, Carla R. Nowosad, Stefan Feske, Francesco Colucci, William A. Coetzee, William A. Coetzee, William A. Coetzee   +13 more
doaj   +10 more sources

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition [PDF]

European Journal of Medical Genetics, 2013
KCNJ8 (NM_004982) encodes the pore forming subunit of one of the ATP-sensitive inwardly rectifying potassium (KATP) channels. KCNJ8 sequence variations are traditionally associated with J-wave syndromes, involving ventricular fibrillation and sudden cardiac death.
Alan H Beggs, Philippe M Campeau
exaly   +4 more sources

Mitochondrial Ca2+-coupled generation of reactive oxygen species, peroxynitrite formation, and endothelial dysfunction in Cantú syndrome [PDF]

JCI Insight
Cantú syndrome is a multisystem disorder caused by gain-of-function (GOF) mutations in KCNJ8 and ABCC9, the genes encoding the pore-forming inward rectifier Kir6.1 and regulatory sulfonylurea receptor SUR2B subunits, respectively, of vascular ATP ...
Elsayed Metwally, Alfredo Sanchez Solano, Boris Lavanderos, Evan Yamasaki, Pratish Thakore, Conor McClenaghan, Natalia Rios, Rafael Radi, Yumei Feng Earley, Colin G. Nichols, Scott Earley   +10 more
doaj   +3 more sources

Immunohistochemical, pharmacovigilance, and omics analyses reveal the involvement of ATP-sensitive K+ channel subunits in cancers: role in drug–disease interactions [PDF]

Frontiers in Pharmacology, 2023
Background: ATP-sensitive-K+ channels (KATP) are involved in diseases, but their role in cancer is poorly described. Pituitary macroadenoma has been observed in Cantu’ syndrome (C.S.), which is associated with the gain-of-function mutations of the ABCC9 ...
Fatima Maqoud, Fatima Maqoud, Nicola Zizzo, Marcella Attimonelli, Antonella Tinelli, Giuseppe Passantino, Marina Antonacci, Girolamo Ranieri, Domenico Tricarico   +8 more
doaj   +4 more sources

Investigating Angiogenesis-Related Biomarkers in Osteoarthritis Patients Through Transcriptomic Profiling [PDF]

Journal of Inflammation Research
Yang Zheng,1 Miaojia Fang,2 Shriya Sanan,1 Xi-Hui Meng,1 Jie-Feng Huang,1 Yu Qian1 1Zhejiang Provincial Hospital of Traditional Chinese Medicine, Hangzhou, People’s Republic of China; 2Institute of Forensic Science, Yuhang Public Security Department ...
Zheng Y, Fang M, Sanan S, Meng XH, Huang JF, Qian Y   +5 more
doaj   +2 more sources

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

Frontiers 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, Domenica Mallardi, Antonella Orlando, Domenico Tricarico, Colin G. Nichols, Marina Antonacci, Giusy Bianco, Raffaele Armentano, Ilaria Grassi, Anna Maria Valentini, Francesco Russo   +10 more
doaj   +2 more sources

From Array-CGH to Whole-Genome Sequencing: A 29-Year Diagnostic Journey Culminating in the Identification of a De Novo ABCC9 Variant Consistent with Cantú Syndrome [PDF]

Diagnostics
Background and Clinical Significance: Cantú syndrome (OMIM #239850) is a rare autosomal dominant disorder caused by gain-of-function variants in ABCC9 or KCNJ8, which encode subunits of the ATP-sensitive potassium (KATP) channel.
Chung-Lin Lee, Ya-Hui Chang, Chih-Kuang Chuang, Huei-Ching Chiu, Yuan-Rong Tu, Yun-Ting Lo, Jun-Yi Wu, Hsiang-Yu Lin, Shuan-Pei Lin   +8 more
doaj   +2 more sources

cDNA Sequence, Gene Structure, and Chromosomal Localization of the Human ATP-Sensitive Potassium Channel, uKATP-1, Gene (KCNJ8)

Genomics, 1995
ATP-sensitive K+ (KATP) channels play a crucial role in coupling metabolic energy to the membrane potential of cells. Recently, we have isolated a KATP channel cDNA (uKATP-1) that is expressed ubiquitously in rat tissues including pancreatic islets, pituitary, skeletal muscle, and heart. Here, we report cloning of the human cDNA and gene encoding uKATP-
Nobuya Inagaki, Susumu Seino
exaly   +3 more sources