Results 21 to 30 of about 217 (107)

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

Identification of markers for predicting prognosis and endocrine metabolism in nasopharyngeal carcinoma by miRNA–mRNA network mining and machine learning

Frontiers in Endocrinology, 2023
BackgroundNasopharyngeal cancer (NPC) has a high incidence in Southern China and Asia, and its survival is extremely poor in advanced patients. MiRNAs play critical roles in regulating gene expression and serve as therapeutic targets in cancer.
Xixia Zhang, Xiao Li, Caixia Wang, Shuang Wang, Yuan Zhuang, Bing Liu, Xin Lian   +6 more
doaj   +1 more source

Investigation of Arrhythmia Markers and KCNJ8-S422L Gene Mutation in a Population with Early Repolarization Pattern on ECG

Journal of the American College of Cardiology, 2013
29th Turkish Cardiology Congress of the Turkish-Society-of-Cardiology (TSC) with International Participation -- OCT 26-29, 2013 -- Antalya, TURKEYWOS: 000329858400150…Turkish Soc ...
Ermiş, Emrah, Demirelli, Selami, İpek, Emrah, Çiftçi, Çavlan, Hançer, Veysel Sabri, Poyraz, Esra   +5 more
openaire   +2 more sources

Mosaicism for a 12p12.1p12.2 microdeletion with a normal euploid cell line at amniocentesis in a pregnancy with a favorable outcome and postnatal decrease of the aneuploid cell line with microdeletion

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present mosaicism for a 12p12.1p12.2 microdeletion with a normal euploid cell line at amniocentesis in a pregnancy with a favorable outcome and postnatal decrease of the aneuploid cell line with microdeletion.
Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Wayseen Wang   +4 more
doaj   +1 more source

Underlying genetic architecture of resistance to mastitis in dairy cattle: A systematic review and gene prioritization analysis of genome-wide association studies

Journal of Dairy Science, 2023
: Mastitis, the most frequent disease in dairy cattle. Resistance to mastitis is a complex, polygenic trait controlled by several genes, each with small effects.
Saranya G. Narayana, Ellen de Jong, Flavio S. Schenkel, Pablo A.S. Fonseca, Tatiane C.S. Chud, Diana Powell, Garrett Wachoski-Dark, Paul E. Ronksley, Filippo Miglior, Karin Orsel, Herman W. Barkema   +10 more
doaj   +1 more source

Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice

JCI Insight, 2021
Cantu syndrome (CS) is caused by gain-of-function (GOF) mutations in pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) ATP-sensitive potassium (KATP) channel subunits, the most common mutations being SUR2[R1154Q] and SUR2[R1154W], carried by ...
Haixia Zhang, Alex Hanson, Tobias Scherf de Almeida, Christopher Emfinger, Conor McClenaghan, Theresa Harter, Zihan Yan, Paige E. Cooper, G. Schuyler Brown, Eric C. Arakel, Robert P. Mecham, Atilla Kovacs, Carmen M. Halabi, Blanche Schwappach, Maria S. Remedi, Colin G. Nichols   +15 more
doaj   +1 more source

Pathophysiological Consequences of KATP Channel Overactivity and Pharmacological Response to Glibenclamide in Skeletal Muscle of a Murine Model of Cantù Syndrome

Frontiers in Pharmacology, 2020
Cantù syndrome (CS) arises from mutations in ABCC9 and KCNJ8 genes that lead to gain of function (GOF) of ATP-sensitive potassium (KATP) channels containing SUR2A and Kir6.1 subunits, respectively, of KATP channels.
Rosa Scala, Fatima Maqoud, Nicola Zizzo, Antonietta Mele, Giulia Maria Camerino, Francesco Alfredo Zito, Girolamo Ranieri, Conor McClenaghan, Theresa M. Harter, Colin G. Nichols, Domenico Tricarico   +10 more
doaj   +1 more source

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders

Disease Models & Mechanisms, 2018
The zebrafish (Danio rerio) has become a popular vertebrate model organism to study organ formation and function due to its optical clarity and rapid embryonic development.
Federico Tessadori, Helen I. Roessler, Sanne M. C. Savelberg, Sonja Chocron, Sarah M. Kamel, Karen J. Duran, Mieke M. van Haelst, Gijs van Haaften, Jeroen Bakkers   +8 more
doaj   +1 more source

Table1_Immunohistochemical, pharmacovigilance, and omics analyses reveal the involvement of ATP-sensitive K+ channel subunits in cancers: role in drug–disease interactions.DOCX

, 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 ...
Domenico Tricarico (316527), Marcella Attimonelli (73528), Antonella Tinelli (15350632), Nicola Zizzo (351289), Girolamo Ranieri (289106), Marina Antonacci (15350635), Fatima Maqoud (15350629), Giuseppe Passantino (6736829)   +7 more
core   +1 more source

ATP sensitive potassium channels in the skeletal muscle functions : involvement of the KCNJ11(Kir6.2) gene in the determination of Warner Bratzer shear force

Frontiers in Physiology, 2016
The ATP-sensitive K+-channels (KATP) are distributed in the tissues coupling metabolism with K+ ions efflux. KATP subunits are encoded by KCNJ8 (Kir6.1), KCNJ11 (Kir6.2), ABCC8 (SUR1) and ABCC9 (SUR2) genes, alternative RNA splicing give rise to SUR ...
Domenico eTricarico, Maria eSelvaggi, Giuseppe ePassantino, Pasquale eDe Palo, Dario eCataldo, Pasquale eCentoducati, Alessandra eTateo, Angela eCurci, Fatima eMaquod, Antonietta eMele, Giulia Maria eCamerino, Antonella eLiantonio, Paola eImbrici, Nicola eZizzo   +13 more
doaj   +1 more source