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Identification of rare variants in candidate genes associated with monogenic diabetes in polish mody-x patients.
J Diabetes Metab Disord
June 2024
Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland.
Purpose: Monogenic diabetes (MD) is caused by a mutation in a single gene and accounts for approximately 2.5-6% of all diabetes cases. Maturity-onset diabetes of the young (MODY) is the most common form of MD.
View Article and Find Full Text PDFIdentification and Verification of Hub Mitochondrial Dysfunction Genes in Osteoarthritis Based on Bioinformatics Analysis.
J Immunol Res
February 2024
School of Public Health, Xi'an Jiaotong University Health Science Center, Key Laboratory of Trace Elements and Endemic Diseases, National Health Commission of the People's Republic of China, Xi'an 710061, Shaanxi, China.
Objective: Age-related mitochondrial dysfunction and associated oxidative stress may contribute to the development of osteoarthritis. The aim of this study was to identify hub genes associated with mitochondrial dysfunction in osteoarthritis (OA) patients, helping predict the risk of OA, and revealing the mechanism of OA progression.
Methods: OA expression data and mitochondrial dysfunction genes were downloaded from GEO (GSE55235, GSE82107, and GSE114007) and GeneCard databases.
Identification of the amino acid residues involved in the species-dependent differences in the pyridoxine transport function of SLC19A3.
J Biol Chem
August 2022
Department of Biopharmaceutics, Graduate School of Pharmaceutical Sciences, Nagoya City University, Mizuho-ku, Nagoya, Japan.
Recent studies have shown that human solute carrier SLC19A3 (hSLC19A3) can transport pyridoxine (vitamin B6) in addition to thiamine (vitamin B1), its originally identified substrate, whereas rat and mouse orthologs of hSLC19A3 can transport thiamine but not pyridoxine. This finding implies that some amino acid residues required for pyridoxine transport, but not for thiamine transport, are specific to hSLC19A3. Here, we sought to identify these residues to help clarify the unique operational mechanism of SLC19A3 through analyses comparing hSLC19A3 and mouse Slc19a3 (mSlc19a3).
View Article and Find Full Text PDFIdentification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.
Clin Chim Acta
May 2021
Department of Pediatric Endocrinology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, 9677 Jingshi Road, Lixia Area, Jinan, Shandong 250021, China; Department of Pediatric Endocrinology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, 9677 Jingshi Road, Lixia Area, Jinan, Shandong 250021, China. Electronic address:
Background And Aims: Thiamine-responsive megaloblastic anemia (TRMA), caused by SLC19A2 loss-of-function variants, is characterized by the triad of megaloblastic anemia, progressive sensorineural deafness, and non-type 1 diabetes mellitus. Here, we present the case of a Chinese infant with two novel variants segregating in compound heterozygous form in SLC19A2 and reviewed genotype-phenotype associations (GPAs) in patients with TRMA.
Materials And Methods: Whole-exome sequencing was performed to establish a genetic diagnosis.
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