Results 11 to 20 of about 217 (107)

Loss-of-Function Mutations in the KCNJ8 -Encoded Kir6.1 K _ATP Channel and Sudden Infant Death Syndrome [PDF]

Circulation: Cardiovascular Genetics, 2011
Background— Approximately 10% of sudden infant death syndrome (SIDS) may stem from cardiac channelopathies. The KCNJ8 -encoded Kir6.1 (K ATP ) channel critically regulates vascular tone and cardiac adaptive response to systemic metabolic stressors, including
Tester, David J., Tan, Bi-Hua, Medeiros Domingo, Argelia, Song, Chunhua, Makielski, Jonathan C., Ackerman, Michael J.   +5 more
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Kir6.1, a component of an ATP-sensitive potassium channel, regulates natural killer cell development

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   +5 more sources

Kir6.1- and SUR2-dependent KATP overactivity disrupts intestinal motility in murine models of Cantú syndrome

JCI Insight, 2020
Cantú syndrome (CS), caused by gain-of-function (GOF) mutations in pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) ATP-sensitive potassium (KATP) channel subunit genes, is frequently accompanied by gastrointestinal (GI) dysmotility, and we ...
Nathaniel W. York, Helen Parker, Zili Xie, David Tyus, Maham Akbar Waheed, Zihan Yan, Dorothy K. Grange, Maria Sara Remedi, Sarah K. England, Hongzhen Hu, Colin G. Nichols   +10 more
doaj   +2 more sources

Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome

Cells, 2021
(1) Background: Cantu syndrome (CS) arises from gain-of-function (GOF) mutations in the ABCC9 and KCNJ8 genes, which encode ATP-sensitive K+ (KATP) channel subunits SUR2 and Kir6.1, respectively.
Rosa Scala, Fatima Maqoud, Nicola Zizzo, Giuseppe Passantino, Antonietta Mele, Giulia Maria Camerino, Conor McClenaghan, Theresa M. Harter, Colin G. Nichols, Domenico Tricarico   +9 more
doaj   +3 more sources

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

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   +2 more sources

In vitro effect of nicorandil on the carbachol-induced contraction of the lower esophageal sphincter of the rat

Journal of Pharmacological Sciences, 2016
The lower esophageal sphincter (LES) is a specialized region of the esophageal smooth muscle that allows the passage of a swallowed bolus into the stomach. Nitric oxide (NO) plays a major role in LES relaxation.
Tomonori Shimbo, Takeshi Adachi, Susumu Fujisawa, Mai Hongoh, Takayoshi Ohba, Kyoichi Ono   +5 more
doaj   +2 more sources

Síndromes de la onda J J wave syndromes

Revista Cubana de Investigaciones Biomédicas, 2012
Se realizó una revisión sobre los aspectos más novedosos y polémicos de los síndromes de la onda J, que incluyó el síndrome de repolarización precoz, la fibrilación ventricular idiopática y la muerte súbita nocturna inexplicable.
Annerys Méndez Rosabal
doaj   +1 more source

Abordagem de Bioinformática e Biologia de Sistemas para Identificar a Ligação Patogenética entre Insuficiência Cardíaca e Sarcopenia

Arquivos Brasileiros de Cardiologia, 2023
Resumo Fundamento Apesar das evidências crescentes de que pacientes com insuficiência cardíaca (IC) são suscetíveis à sarcopenia, o motivo da associação não é bem compreendido.
Rui Xu, Ling-ling Ma, Shuai Cui, Ling Chen, Hong Xu   +4 more
doaj   +2 more sources

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

Electrophysiological analyses of transgenic mice overexpressing KCNJ8 with S422L mutation in cardiomyocytes
研究科: 千葉大学大学院医学薬学府（先端医学薬学専攻） 学位記番号 ...
WATANABE, Yasuhiro
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Studying the Inflammatory Responses to Amyloid Beta Oligomers in Brain-Specific Pericyte and Endothelial Co-Culture From Human Stem Cells

Frontiers in Chemical Engineering, 2022
Background: Recently, the in vitro blood–brain barrier (BBB) models derived from human pluripotent stem cells have been given extensive attention in therapeutics due to the implications they have with the health of the central nervous system.
Mark Marzano, Xingchi Chen, Teal A. Russell, Angelica Medina, Zizheng Wang, Timothy Hua, Changchun Zeng, Changchun Zeng, Xueju Wang, Qing-Xiang Sang, Hengli Tang, Yeoheung Yun, Yan Li   +12 more
doaj   +1 more source