Results 81 to 90 of about 6,585 (184)

MCT1 inhibition reprograms Treg metabolism via ABC transporters: implications for tumor immunity and the prognosis of acute myeloid leukemia patients

European Journal of Medical Research
Glycolysis plays a critical role in regulatory T cells (Tregs), which are frequently exploited by tumor cells, as Treg survival depends on glycolytic activity to suppress antitumor immunity.
Ziyu Wang, Hongyang Wang, Qinghai Wang, Tao Huang, Chen Guo, Jianlei Ji, Zhen Dong, Yanwei Cao   +7 more
doaj   +1 more source

Electrophysiology of Human iPSC-derived Vascular Smooth Muscle Cells and Cell-autonomous Consequences of Cantú Syndrome Mutations

Function
Cantú syndrome (CS), a multisystem disease with a complex cardiovascular phenotype, is caused by gain-of-function (GoF) variants in the Kir6.1/SUR2 subunits of ATP-sensitive potassium (KATP) channels and is characterized by low systemic vascular ...
Alex Hanson, Conor McClenaghan, Kuo-Chan Weng, Sarah Colijn, Amber N Stratman, Carmen M Halabi, Dorothy K Grange, Jonathan R Silva, Colin G Nichols   +8 more
doaj   +1 more source

Reassessment of Risk Genotypes (GRN,TMEM106B, andABCC9Variants) Associated With Hippocampal Sclerosis of Aging Pathology [PDF]

Journal of Neuropathology & Experimental Neurology, 2015
Hippocampal sclerosis of aging (HS-Aging) is a common high-morbidity neurodegenerative condition in elderly persons. To understand the risk factors for HS-Aging, we analyzed data from the Alzheimer's Disease Genetics Consortium and correlated the data with clinical and pathologic information from the National Alzheimer's Coordinating Center database ...
Peter T, Nelson, Wang-Xia, Wang, Amanda B, Partch, Sarah E, Monsell, Otto, Valladares, Sally R, Ellingson, Bernard R, Wilfred, Adam C, Naj, Li-San, Wang, Walter A, Kukull, David W, Fardo   +10 more
openaire   +2 more sources

Decreased RYR2 Cluster Size and Abnormal SR Ca2+ Release Contribute to Arrhythmogenesis in TMEM43‐Related ARVC

Advanced Science, Volume 12, Issue 45, December 4, 2025.
The TMEM43 ‐ P386S mutation causes arrhythmogenic right ventricular cardiomyopathy (ARVC) by mislocalizing itself from nuclear envelope (NE) to cytoplasm, disrupting lamin B2 (a novel TMEM43 interactor) localization, NE integrity and chromatin accessibility, causing hyper ‐ phosphorylation and reduced expression/clustering of ryanodine receptor type 2 (
Jiaxi Shen, Xiaochen Wang, Hangping Fan, Yaxun Sun, Tingyu Gong, Hangyuan Qiu, Jue Wang, Ziwei Pan, Yanna Dang, Hongkun Wang, Danni Zhou, Tianyi Zhu, Hao Wang, Xianzhen Chen, Lizhen Xu, Jun Su, Fan Yang, Yiquan Tang, Xuguang Li, Bing Yang, Lenan Zhuang, Wei Wang, Chenyang Jiang, Ping Liang   +23 more
wiley   +1 more source

Effect of propofol on cardiac function and gene expression after ischemic-reperfusion in isolated rat heart [PDF]

Korean Journal of Anesthesiology, 2010
BackgroundThe aim of this study was to examine the cardiac function and transcriptional response of the heart to propofol after ischemia-reperfusion.MethodsRat hearts were Langendorff-perfused using the modified Krebs-Henseleit buffer, and took 20 min ...
Youn Jin Kim, Hae Ja Lim, Sung Uk Choi
doaj   +1 more source

Towards an evolutionary account of the changes in the human pitch vocal system

, 2023
This commentary paper is aimed to hypothesize about a rationale for the selection events on the gene ABCC9, recently associated with higher voice pitch, as part of the evolution of the human language and the human species, more ...
Antonio Benítez-Burraco
core   +1 more source

Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype [Corrigendum]

The Application of Clinical Genetics, 2018
Pachajoa H, López-Quintero W, Vanegas S, Montoya CL, Ramírez-Montaño D. The Application of Clinical Genetics. 2018;11:15–21.In the main title (page 15) and in the first column, third row of Table 1 (page 17), the gene name ...
Pachajoa H, López-Quintero W, Vanegas S, Montoya CL, Ramírez-Montaño D   +4 more
doaj  

Functional and Transcriptional Disruption of Hepatic ABC Transporters by Environmentally Relevant Short‐Chain Per‐ and Polyfluoroalkyl Substances (PFAS)

Journal of Biochemical and Molecular Toxicology, Volume 39, Issue 12, December 2025.
Low‐dose short‐chain PFAS exposures enhance hepatic ABC transporter activity and expression, revealing that environmentally relevant concentrations can reprogram xenobiotic transport pathways and potentially influence drug metabolism, bile acid handling, and lipid homeostasis, highlighting a molecular link between chronic PFAS exposure and altered ...
Gracen E. Collier, Ramon Lavado
wiley   +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