Results 81 to 90 of about 217 (107)

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

, 2018
openaire   +1 more source

Analisi mutazionale di Kir6.1/KCNJ8 in pazienti con angina vasospastica

, 2003
FALCONE, COLOMBA, BUZZI, MARIA PAOLA, GEROLDI, DIEGO, A. D’Angelo, S. Leonardi, T. Perrone, EMANUELE, ENZO, MINORETTI, PIERCARLO   +7 more
core  

KCNJ8/ABCC9-containing K-ATP channel modulates brain vascular smooth muscle development and neurovascular coupling

Developmental Cell, 2022
Loss- or gain-of-function mutations in ATP-sensitive potassium channel (K-ATP)-encoding genes, KCNJ8 and ABCC9, cause human central nervous system disorders with unknown pathogenesis. Here, using mice, zebrafish, and cell culture models, we investigated cellular and molecular causes of brain dysfunctions derived from altered K-ATP channel function.
Koji Ando, Lei Tong, Di Peng
exaly   +5 more sources

Absence of Kir6.1/KCNJ8 mutations in Italian patients with abnormal coronary vasomotion

International Journal of Molecular Medicine, 2003
The disturbances in coronary vasomotor tone have been extensively analyzed, but the exact molecular mechanisms underlying abnormal coronary vasomotion remain to be elucidated. It has been suggested that impaired coronary vasoreactivity can be the expression of a defect in vascular smooth muscle cells. A mouse model of human variant (vasospastic) angina
Enzo Emanuele, Colomba Falcone, Angela D'Angelo   +2 more
exaly   +4 more sources

Genomic organization and expression of KCNJ8/Kir6.1, a gene encoding a subunit of an ATP-sensitive potassium channel

Gene, 1998
ATP-sensitive K+ (KATP) channels are implicated in the coupling of metabolic energy to membrane potential, thereby regulating many essential cell functions. Here, we demonstrate that a subunit of human KATP channel, KCNJ8/Kir6.1, is expressed preferentially in the human heart.
Nihan Erginel-Unaltuna, Wen-Pin Yang
exaly   +4 more sources

Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature

American Journal of Medical Genetics Part A, 2022
AbstractCantù syndrome (CS) is a rare multisystemic disorder, characterized by congenital hypertrichosis, macrocephaly, facial dysmorphisms, cardiomegaly, vascular, and skeletal anomalies. From the cognitive point of view, most of the patients show a mild speech delay and a few of them present intellectual disability and learning difficulties. To date,
Apuril Velgara, Erika Solansh, Mariani, Milena, Torella, Annalaura, Musacchia, Francesco, Nigro, Vincenzo, Selicorni, Angelo   +5 more
openaire   +3 more sources

Ventricular Fibrillation with Prominent Early Repolarization Associated with a Rare Variant of KCNJ8/K_ATP Channel

Journal of Cardiovascular Electrophysiology, 2008
Background: Early repolarization in the inferolateral leads has been recently recognized as a frequent syndrome associated with idiopathic ventricular fibrillation (VF). We report the case of a patient presenting dramatic changes in the ECG in association with recurrent VF in whom a novel genetic variant has been identified.
Haïssaguerre, Michel, Chatel, Stéphanie, Sacher, Frederic, Weerasooriya, Rukshen, Probst, Vincent, Loussouarn, Gildas, Horlitz, Marc, Liersch, Ruedige, Schulze-Bahr, Eric, Wilde, Arthur, Kääb, Stefan, Koster, Joseph, Rudy, Yoram, Le Marec, Hervé, Schott, Jean Jacques   +14 more
openaire   +3 more sources

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Sur2 and Kcnj8 genes are tightly linked on the distal region of mouse Chromosome 6

Mammalian Genome, 1997
Shojiro Isomoto, Yoshiyuki Horio, C Kondo   +2 more
exaly   +3 more sources

Kcnh2 and Kcnj8 interactively regulate skin wound healing and regeneration

Wound Repair and Regeneration, 2015
ABSTRACTPrevious studies indicate that ion channels are mediators of bioelectricity promoting wound closure/regeneration in nonmammalian, lower vertebrate systems. The role of ion channels however in regeneration of wounds in mammalian systems that do not regenerate as adults is not yet defined.
Wengeng, Zhang, Marianna, Bei
openaire   +2 more sources

Gene knockout of the KCNJ8‐encoded Kir6.1 K _ATP channel imparts fatal susceptibility to endotoxemia

The FASEB Journal, 2006
Sepsis, the systemic inflammatory response to infection, imposes a high demand for bodily adaptation, with the cardiovascular response a key determinant of outcome. The homeostatic elements that secure cardiac tolerance in the setting of the sepsis syndrome are poorly understood.
Garvan C, Kane, Chen-Fuh, Lam, Fearghas, O'Cochlain, Denice M, Hodgson, Santiago, Reyes, Xiao-Ke, Liu, Takashi, Miki, Susumu, Seino, Zvonimir S, Katusic, Andre, Terzic   +9 more
openaire   +2 more sources