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A3AR antagonism mitigates metabolic dysfunction-associated steatotic liver disease by exploiting monocyte-derived Kupffer cell necroptosis and inflammation resolution.
Metabolism
December 2024
College of Pharmacy and Medical Research Center, Chungbuk National University, Cheongju, Chungbuk, South Korea. Electronic address:
Background & Aims: Metabolic dysfunction-associated steatotic liver (MASLD) progression is driven by chronic inflammation and fibrosis, largely influenced by Kupffer cell (KC) dynamics, particularly replenishment of pro-inflammatory monocyte-derived KCs (MoKCs) due to increased death of embryo-derived KCs. Adenosine A3 receptor (A3AR) plays a key role in regulating metabolism and immune responses, making it a promising therapeutic target. This study aimed to investigate the impact of selective A3AR antagonism for regulation of replenished MoKCs, thereby improving MASLD.
View Article and Find Full Text PDFDistinct network patterns emerge from Cartesian and XOR epistasis models: a comparative network science analysis.
BioData Min
December 2024
School of Computing, Queen's University, 557 Goodwin Hall, 21-25 Union St, Kingston, K7L 2N8, Ontario, Canada.
Background: Epistasis, the phenomenon where the effect of one gene (or variant) is masked or modified by one or more other genes, significantly contributes to the phenotypic variance of complex traits. Traditionally, epistasis has been modeled using the Cartesian epistatic model, a multiplicative approach based on standard statistical regression. However, a recent study investigating epistasis in obesity-related traits has identified potential limitations of the Cartesian epistatic model, revealing that it likely only detects a fraction of the genetic interactions occurring in natural systems.
View Article and Find Full Text PDFExploring key embryonic developmental morphokinetic parameters that affect clinical outcomes during the PGT cycle using time-lapse monitoring systems.
BMC Pregnancy Childbirth
December 2024
Reproductive Medical Center, Henan Province Key Laboratory of Reproduction and Genetics, The First Affiliated Hospital of Zhengzhou University, No. 1 East Jianshe Road, Erqi District, Zhengzhou, China.
Research Question: Is it possible to predict blastocyst quality, embryo chromosomal ploidy, and clinical pregnancy outcome after single embryo transfer from embryo developmental morphokinetic parameters?
Design: The morphokinetic parameters of 1011 blastocysts from 227 patients undergoing preimplantation genetic testing were examined. Correlations between the morphokinetic parameters and the quality of blastocysts, chromosomal ploidy, and clinical pregnancy outcomes following the transfer of single blastocysts were retrospectively analyzed.
Results: The morphokinetic parameters of embryos in the high-quality blastocyst group were significantly shorter than those in the low-quality blastocyst group (p < 0.
Genome-wide association study of anterior uveitis.
Br J Ophthalmol
December 2024
Department of Ophthalmology and Medical Research Center, Oulu University Hospital; Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland.
Background/aims: The purpose of this study is to define genetic factors associated with anterior uveitis through genome-wide association study (GWAS).
Methods: In this GWAS meta-analysis, we combined data from the FinnGen, Estonian Biobank and UK Biobank with a total of 12 205 anterior uveitis cases and 917 145 controls. We performed a phenome-wide association study (PheWAS) to investigate associations across phenotypes and traits.
Loss-of-function SLC25A20 mutation causes carnitine-acylcarnitine translocase deficiency by reducing SLC25A20 protein stability.
Gene
December 2024
Department of Medical Genetics/Experimental Education/Administration Center, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, China; Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou 510515, China; Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou 510280, China. Electronic address:
Background/aim: Autosomal-recessive carnitine-acylcarnitine translocase deficiency (CACTD) is a rare disorder of long-chain fatty acid oxidation caused by variants in the SLC25A20 gene. Under fasting conditions, most newborns with severe CACTD experience sudden cardiac arrest and hypotonia, often leading to premature death due to rapid disease progression. Understanding of genetic factors and pathogenic mechanisms in CACTD is essential for its diagnosis, treatment, and prevention.
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