Novel enhancer mediates the readthrough loci and gene expressions associated with fabry disease.

Fabry disease (FD) is a rare genetic condition caused by mutations in the gene, located on the X chromosome in the readthrough genomic region. This gene produces an enzyme called alpha-galactosidase A (α-Gal A). When the enzyme does not function properly due to the mutations, it causes harmful substances called globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) to build up in the body's lysosomes.

The potential consequences of bidirectional promoter methylation on and expression in Fabry disease phenotypes in a family of patients carrying a deletion variant.

Fabry disease (FD) is a rare inherited disease characterized by a wide range of symptoms attributed to mutations resulting in defective α-galactosidase A (α-Gal A) and accumulation of glycosphingolipids. The locus is paired in a divergent manner with the heterogeneous nuclear ribonucleoprotein locus mapped in the readthrough locus. As a follow-up to our recent finding of the co-regulation of and via a bidirectional promoter (BDP) in normal kidney and skin cells, the potential accumulative influence of BDP methylation and mutation on the severity of FD in patients from the same family, two males and two females carrying a deletion mutation, c.

Unexplored regulatory sequences of divergently paired and loci pertinent to Fabry disease in human kidney and skin cells: Presence of an active bidirectional promoter.

Fabry disease (FD) is a rare hereditary disorder characterized by a wide range of symptoms caused by a variety of mutations in the galactosidase α () gene. The heterogeneous nuclear ribonucleoprotein () gene is divergently paired with on chromosome X and is thought to be implicated in FD. However, insufficient information is available on the regulatory mechanisms associated with the expression of and the loci.

Gut Microbiota-Dependent Trimethylamine-N-oxide and Serum Biomarkers in Patients with T2DM and Advanced CKD.

Trimethylamine--oxide (TMAO) is a product of dietary, gut microbiome, and tissues metabolism. Elevated blood TMAO levels are associated with heart attack, stroke and chronic kidney disease (CKD). The purpose of our study was to investigate the gut microbiota associated with trimethylamine (TMA) production, the precursor of TMAO, and the serum levels of TMAO and inflammatory biomarkers associated with type 2 diabetes mellitus (T2DM) and CKD.