Results 21 to 30 of about 1,940 (148)

The Mechanism of High-Output Cardiac Hypertrophy Arising From Potassium Channel Gain-of-Function in Cantú Syndrome

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, Yan Huang, Scot J Matkovich, Attila Kovacs, Carla J Weinheimer, Ron Perez, Thomas J Broekelmann, Theresa M Harter, Jin-Moo Lee, Maria S Remedi, Colin G Nichols   +10 more
doaj   +1 more source

Genetic variations for the eggshell crystal structure revealed by genome-wide association study in chickens

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, Zhongyi Duan, Congjiao Sun, Jiangxia Zheng, Guiyun Xu, Ning Yang   +5 more
doaj   +1 more source

Abordagem de Bioinformática e Biologia de Sistemas para Identificar a Ligação Patogenética entre Insuficiência Cardíaca e Sarcopenia

Arquivos Brasileiros de Cardiologia, 2023
Resumo Fundamento Apesar das evidências crescentes de que pacientes com insuficiência cardíaca (IC) são suscetíveis à sarcopenia, o motivo da associação não é bem compreendido.
Rui Xu, Ling-ling Ma, Shuai Cui, Ling Chen, Hong Xu   +4 more
doaj   +2 more sources

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

Electrophysiological analyses of transgenic mice overexpressing KCNJ8 with S422L mutation in cardiomyocytes
研究科: 千葉大学大学院医学薬学府（先端医学薬学専攻） 学位記番号 ...
WATANABE, Yasuhiro
openaire   +2 more sources

Studying the Inflammatory Responses to Amyloid Beta Oligomers in Brain-Specific Pericyte and Endothelial Co-Culture From Human Stem Cells

Frontiers in Chemical Engineering, 2022
Background: Recently, the in vitro blood–brain barrier (BBB) models derived from human pluripotent stem cells have been given extensive attention in therapeutics due to the implications they have with the health of the central nervous system.
Mark Marzano, Xingchi Chen, Teal A. Russell, Angelica Medina, Zizheng Wang, Timothy Hua, Changchun Zeng, Changchun Zeng, Xueju Wang, Qing-Xiang Sang, Hengli Tang, Yeoheung Yun, Yan Li   +12 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

Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome

Cells, 2021
(1) Background: Cantu syndrome (CS) arises from gain-of-function (GOF) mutations in the ABCC9 and KCNJ8 genes, which encode ATP-sensitive K+ (KATP) channel subunits SUR2 and Kir6.1, respectively.
Rosa Scala, Fatima Maqoud, Nicola Zizzo, Giuseppe Passantino, Antonietta Mele, Giulia Maria Camerino, Conor McClenaghan, Theresa M. Harter, Colin G. Nichols, Domenico Tricarico   +9 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

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