Results 1 to 10 of about 217 (107)
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 +25 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 ...
Akio Matsumoto +2 more
exaly +6 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.
Catherine A Brownstein +2 more
exaly +4 more sources
Cantú Syndrome Resulting from Activating Mutation in theKCNJ8Gene [PDF]
Human Mutation, 2014 ATP-sensitive potassium (KATP ) channels, composed of inward-rectifying potassium channel subunits (Kir6.1 and Kir6.2, encoded by KCNJ8 and KCNJ11, respectively) and regulatory sulfonylurea receptor (SUR1 and SUR2, encoded by ABCC8 and ABCC9, respectively), couple metabolism to excitability in multiple tissues.
Cooper,Paige E. +10 more
openaire +5 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 +8 more
doaj +4 more sources
Differential gene expression of cardiac ion channels in human dilated cardiomyopathy. [PDF]
PLoS ONE, 2013 BACKGROUND: Dilated cardiomyopathy (DCM) is characterized by idiopathic dilation and systolic contractile dysfunction of the cardiac chambers. The present work aimed to study the alterations in gene expression of ion channels involved in cardiomyocyte ...
Maria Micaela Molina-Navarro +12 more
doaj +2 more sources
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 +2 more
exaly +3 more sources
BMC Pediatrics, 2023 Background Cantu syndrome is a rare and complex multisystem disorder characterized by hypertrichosis, facial dysmorphism, osteochondroplasia and cardiac abnormalities.
Falastine Daas +2 more
doaj +1 more source
Function, 2020 Dramatic cardiomegaly arising from gain-of-function (GoF) mutations in the ATP-sensitive potassium (KATP) channels genes, ABCC9 and KCNJ8, is a characteristic feature of Cantú syndrome (CS).
Conor McClenaghan +10 more
doaj +1 more source
BMC Genomics, 2021 Background Eggshell is a bio-ceramic material comprising columnar calcite (CaCO3) crystals and organic proteinaceous matrix. The size, shape and orientation of the CaCO3 crystals influence the microstructural properties of chicken eggshells. However, the
Quanlin Li +5 more
doaj +1 more source