Substrate Transport and Drug Interaction of Human Thiamine Transporters SLC19A2/A3 [PDF]
Nature CommunicationsThiamine and pyridoxine are essential B vitamins that serve as enzymatic cofactors in energy metabolism, protein and nucleic acid biosynthesis, and neurotransmitter production.
Pu Gao, Qianhui Qu, Xuyuan Zhang
exaly +6 more sources
Diagnosis of a Patient With Severe Sensorineural Hearing Loss as the Initial Symptom Caused by Novel Compound Heterozygous Variant in SLC19A2 Gene [PDF]
Brazilian Journal of OtorhinolaryngologyObjective: Thiamine-Responsive Megaloblastic Anemia (TRMA) syndrome, caused by biallelic variants in the SLC19A2 gene, typically presents with a triad of megaloblastic anemia, diabetes mellitus, and sensorineural hearing loss.
Niu Li, Youjin Li, JunYang Li
exaly +4 more sources
Phospholipid scrambling induced by an ion channel/metabolite transporter complex [PDF]
Nature CommunicationsCells establish the asymmetrical distribution of phospholipids and alter their distribution by phospholipid scrambling (PLS) to adapt to environmental changes.
Han Niu +4 more
doaj +3 more sources
Thiamine-responsive megaloblastic anemia syndrome with novel compound heterozygous SLC19A2 mutations and thrombotic events: a case report [PDF]
Journal of Medical Case ReportsBackground Thiamine-responsive megaloblastic anemia syndrome represents a rare autosomal recessive condition originating from mutations in the SLC19A2 gene.
Francisco Xavier Jiménez +7 more
doaj +4 more sources
A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family With Thiamine-Responsive Megaloblastic Anemia [PDF]
Cellular Physiology and Biochemistry, 2018 Background/Aims: Thiamine-responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder resulting from mutations in SLC19A2, and is mainly characterized by megaloblastic anemia, diabetes, and progressive sensorineural hearing loss ...
Fa-Quan Lin, Lin Liao, Yuanyuan Qin
exaly +5 more sources
Whole Exome Sequencing Identifies a New Mutation in the SLC19A2 Gene Leading to Thiamine-Responsive Megaloblastic Anemia in an Egyptian Family [PDF]
Molecular Genetics & Genomic Medicine, 2019 Background The Solute Carrier Family 19 Member 2 (SLC19A2, OMIM *603941) encodes the thiamine transporter 1 (THTR‐1) that brings thiamine (Vitamin B1) into cells.
Said Aoufouchi +2 more
exaly +5 more sources
Rogers Syndrome, an Uncommon Cause of Megaloblastic Anemia: A Case Series [PDF]
Advanced Biomedical ResearchThe present case series describes two male children of 5 months and 11 months old, having diabetes mellitus and megaloblastic anemia, but with no syndromic symptoms or organ involvement.
Reshma Roshan +4 more
doaj +2 more sources
Elevated thiamine level is associated with activating interaction between HIF-1α and SLC19A3 in experimental myopic guinea pigs [PDF]
Frontiers in MedicineBackgroundThe SLC19 gene family of solute carriers is a family of three transporter proteins with similar structures, of which SLC19A2 and SLC19A3 mediate thiamin transport; HIF is a transcriptionally active nuclear protein that is a key factor activated
Zhongyu Ma +15 more
doaj +2 more sources
Screening potential diagnostic biomarkers for PLA2R‑associated idiopathic membranous nephropathy by WGCNA analysis and LASSO algorithm [PDF]
Renal FailureAdult nephrotic syndrome is primarily caused by membranous nephropathy (MN), with idiopathic membranous nephropathy (IMN) being a prominent subtype. The onset of phospholipase A2 receptor (PLA2R1)-associated IMN is critically linked to M-type PLA2R1 ...
Jinxu Huang +6 more
doaj +2 more sources
Integrative Bioinformatics-Guided Analysis of Glomerular Transcriptome Implicates Potential Therapeutic Targets and Pathogenesis Mechanisms in IgA Nephropathy [PDF]
Bioengineering(1) Background: IgA nephropathy (IgAN) is a leading cause of chronic kidney disease worldwide. Despite its prevalence, the molecular mechanisms of IgAN remain poorly understood, partly due to limited research scale. Identifying key genes involved in IgAN’
Tiange Yang +3 more
doaj +2 more sources