Results 11 to 20 of about 1,646 (125)

A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1. [PDF]

Am J Med Genet A
Abstract Cantu syndrome (CS) (OMIM #239850) is an autosomal dominant multiorgan system condition, associated with a characteristic facial phenotype, hypertrichosis, and multiple cardiovascular complications. CS is caused by gain‐of‐function (GOF) variants in KCNJ8 or ABCC9 that encode pore‐forming Kir6.1 and regulatory SUR2 subunits of ATP‐sensitive ...
Gao J, Ververi A, Thompson E, Tryon R, Sotiriadis A, Rouvalis F, Grange DK, Giannios C, Nichols CG.   +8 more
europepmc   +2 more sources

Electrophysiology of Human iPSC-derived Vascular Smooth Muscle Cells and Cell-autonomous Consequences of Cantú Syndrome Mutations [PDF]

Function
Cantú syndrome (CS), a multisystem disease with a complex cardiovascular phenotype, is caused by gain-of-function (GoF) variants in the Kir6.1/SUR2 subunits of ATP-sensitive potassium (KATP) channels and is characterized by low systemic vascular ...
Alex Hanson, Conor McClenaghan, Kuo-Chan Weng, Sarah Colijn, Amber N Stratman, Carmen M Halabi, Dorothy K Grange, Jonathan R Silva, Colin G Nichols   +8 more
doaj   +2 more sources

Sodium butyrate activates the KATP channels to regulate the mechanism of Parkinson's disease microglia model inflammation [PDF]

Immunity, Inflammation and Disease
Background Parkinson's disease (PD) is a common neurodegenerative disorder. Microglia‐mediated neuroinflammation has emerged as an involving mechanism at the initiation and development of PD. Activation of adenosine triphosphate (ATP)‐sensitive potassium
Ye Xu, Laofu Wen, Yunyi Tang, Zhenqiang Zhao, Miaojing Xu, Tan Wang, Zhibin Chen   +6 more
doaj   +2 more sources

Expression and influence of KATP in umbilical artery smooth muscle cells of patients with hypertensive disorders of pregnancy [PDF]

Scientific Reports
The objective of this study is to investigate the expression and influence of adenosine triphosphate-sensitive potassium channel (KATP) in human umbilical arterial smooth muscle cells (HUASMCs) of patients with hypertensive disorders of pregnancy (HDP ...
Benlan Yin, Xiaotong Yu, Xiaodong Fu, Xiyuan Liu, Jing Xiao, Linli Yu, Yunying Nie, Yujiao Zhang   +7 more
doaj   +2 more sources

Zoledronic Acid as a Novel Dual Blocker of KIR6.1/2-SUR2 Subunits of ATP-Sensitive K⁺ Channels: Role in the Adverse Drug Reactions

Pharmaceutics, 2021
Zoledronic acid (ZOL) is used as a bone-specific antiresorptive drug with antimyeloma effects. Adverse drug reactions (A.D.R.) are associated with ZOL-therapy, whose mechanics are unknown.
Fatima Maqoud, Rosa Scala, Vincenzo Tragni, Ciro Leonardo Pierri, Maria Grazia Perrone, Antonio Scilimati, Domenico Tricarico   +6 more
doaj   +1 more source

Involvement of SUR2/Kir6.1 channel in the physiopathology of pulmonary arterial hypertension

Frontiers in Cardiovascular Medicine, 2023
AimsWe hypothesized that the ATP-sensitive K+ channels (KATP) regulatory subunit (ABCC9) contributes to PAH pathogenesis. ABCC9 gene encodes for two regulatory subunits of KATP channels: the SUR2A and SUR2B proteins.
Hélène Le Ribeuz, Hélène Le Ribeuz, Bastien Masson, Bastien Masson, Mary Dutheil, Mary Dutheil, Mary Dutheil, Angèle Boët, Angèle Boët, Antoine Beauvais, Antoine Beauvais, Jessica Sabourin, Vincent Thomas De Montpreville, Véronique Capuano, Véronique Capuano, Véronique Capuano, Olaf Mercier, Marc Humbert, Marc Humbert, Marc Humbert, David Montani, David Montani, David Montani, Fabrice Antigny, Fabrice Antigny   +24 more
doaj   +1 more source

Lymphatic contractile dysfunction in mouse models of Cantú Syndrome with KATP channel gain-of-function

Function, 2023
Cantú Syndrome (CS) is an autosomal dominant disorder caused by gain-of-function (GoF) mutations in the Kir6.1 and SUR2 subunits of KATP channels.
Michael J Davis, Jorge A Castorena-Gonzalez, Hae Jin Kim, Min Li, Maria Remedi, Colin G Nichols   +5 more
doaj   +1 more source

Pharmacological Profiling of K_ATP Channel Modulators: An Outlook for New Treatment Opportunities for Migraine

Pharmaceuticals, 2023
Migraine is a highly disabling pain disorder with huge socioeconomic and personal costs. It is genetically heterogenous leading to variability in response to current treatments and frequent lack of response. Thus, new treatment strategies are needed.
Tino Dyhring, Inger Jansen-Olesen, Palle Christophersen, Jes Olesen   +3 more
doaj   +1 more source

Zoledronic Acid Blocks Overactive Kir6.1/SUR2-Dependent K_ATP Channels in Skeletal Muscle and Osteoblasts in a Murine Model of Cantú Syndrome

Cells, 2023
Cantú syndrome (CS) is caused by the gain of function mutations in the ABCC9 and KCNJ8 genes encoding, respectively, for the sulfonylureas receptor type 2 (SUR2) and the inwardly rectifier potassium channel 6.1 (Kir6.1) of the ATP-sensitive potassium ...
Rosa Scala, Fatima Maqoud, Conor McClenaghan, Theresa M. Harter, Maria Grazia Perrone, Antonio Scilimati, Colin G. Nichols, Domenico Tricarico   +7 more
doaj   +1 more source

The ATP sensitive potassium channel (KATP) is a novel target for migraine drug development

Frontiers in Molecular Neuroscience, 2023
Migraine is one of the leading causes of disability worldwide, affecting work and social life. It has been estimated that sales of migraine medicines will reach 12.9 billion USD in 2027.
Amalie Clement, Sarah Louise Christensen, Inger Jansen-Olesen, Jes Olesen, Song Guo, Song Guo   +5 more
doaj   +1 more source