Results 121 to 130 of about 1,940 (148)

eNAMPT induces alpha-cell mass expansion but impaired glucagon counter regulatory response.

Endocrinology
Sayers SR, Gesheva VS, Varghese JJ, Beavil R, Zhao M, Cheah Y, Hopkins D, Fine NHF, Hasib A, Hodson DJ, Caton PW.   +10 more
europepmc   +1 more source

Single-Cell Dissection of Dimethomorph-Induced Neurotoxicity in the Gestational Brain: Metabolic Disruption and Blood-Brain Barrier Dysfunction. [PDF]

Environ Sci Technol
Zhang T, Qi Z, Teng Y, Duan Z, Dai H, Cheng D, Han J, Liu M.   +7 more
europepmc   +1 more source

Digenic HNF1A and ABCC8 variants provide mechanistic insight into early-onset diabetes.

J Clin Endocrinol Metab
Honda M, Honda R, Nomura TK, Nishikado Y, Takahashi Y, Hosomichi K, Tsunekawa S, Yabe D, Horikawa Y.   +8 more
europepmc   +1 more source

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.
Koichi Kawakami, Naoki Mochizuki, Koji Ando   +2 more
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, Piercarlo Minoretti
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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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   +3 more sources

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

Mammalian Genome, 1997
Yoshiyuki Horio, Debra J Gilbert, N A Jenkins   +2 more
exaly   +3 more sources

Cantú Syndrome Resulting from Activating Mutation in theKCNJ8Gene

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)
Dorothy Grange, Colin Nichols, Alexander Hoischen   +2 more
exaly   +1 more source