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http://dx.doi.org/10.7326/M20-4266 | DOI Listing |
Cell Death Differ
December 2024
Georgetown University Medical Center, Lombardi Comprehensive Cancer Center, Washington, D.C., USA.
Germline inactivating mutations of the SLC25A1 gene contribute to various human disorders, including Velocardiofacial (VCFS), DiGeorge (DGS) syndromes and combined D/L-2-hydroxyglutaric aciduria (D/L-2HGA), a severe systemic disease characterized by the accumulation of 2-hydroxyglutaric acid (2HG). The mechanisms by which SLC25A1 loss leads to these syndromes remain largely unclear. Here, we describe a mouse model of SLC25A1 deficiency that mimics human VCFS/DGS and D/L-2HGA.
View Article and Find Full Text PDFJ Biol Inorg Chem
December 2024
Department of Chemistry and Biochemistry, University of Toledo, Toledo, OH, USA.
The outer mitochondrial membrane protein known as mitoNEET was discovered when it was labeled by a photoaffinity derivative of the anti-diabetes medication, pioglitazone. The biological role for mitoNEET and its specific mechanism for achieving this remains an active subject for research. There is accumulating evidence suggesting that mitoNEET could be a component of mitochondrial FeS cofactor biogenesis.
View Article and Find Full Text PDFSci Rep
December 2024
Department of Internal Medicine, Pusan National University School of Medicine, Busan, South Korea.
Proton pump inhibitors (PPIs) are among the most widely used drugs worldwide. However, their influence on the progression of end-stage kidney disease (ESKD) in established chronic kidney disease (CKD) cases is unclear. Using the Korean Health Insurance Review and Assessment database encoded by the Observational Medical Outcomes Partnership-Common Data Model (OMOP-CDM), patients with stage 3 or 4 CKD initiating PPIs or histamine-2 receptor antagonists (H2RAs) for over 90 days were enrolled from 2012 through 2021.
View Article and Find Full Text PDFSci Rep
December 2024
Division of Joint Surgery and Sports Medicine, Department of Orthopedic Surgery, Zhongnan Hospital of Wuhan University, Wuhan, 430071, China.
Lines of evidence have indicated that type 2 diabetes mellitus (T2DM) is an independent risk factor for osteoarthritis (OA) progression. However, the study focused on the relationship between T2DM and OA at the transcriptional level remains empty. We downloaded OA- and T2DM-related bulk RNA-sequencing and single-cell RNA sequencing data from the Gene Expression Omnibus (GEO) dataset.
View Article and Find Full Text PDFSci Rep
December 2024
Longyan First Affiliated Hospital of Fujian Medical University, Longyan, 364000, Fujian, China.
The monocyte-to-Apolipoprotein A1 ratio (MAR) emerges as a potentially valuable inflammatory biomarker indicative of metabolic dysfunction-associated fatty liver disease (MASLD). Accordingly, this investigation primarily aims to assess the correlation between MAR and MASLD risk. A cohort comprising 957 individuals diagnosed with type 2 diabetes mellitus (T2DM) participated in this study.
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