A5066281672- Fungal and yeast genetics research
- Gene Regulatory Network Analysis
- Gout, Hyperuricemia, Uric Acid
- Alcohol Consumption and Health Effects
- Metabolism and Genetic Disorders
- Genomics and Chromatin Dynamics
Universidad de La Laguna
2023
Universitat Pompeu Fabra
2018
Renal hypouricemia (RHUC) is a rare inherited disorder characterized by impaired urate reabsorption in the proximal tubule resulting low serum levels and increased excretion. Some patients may present severe complications such as exercise-induced acute renal failure nephrolithiasis. RHUC caused inactivating mutations SLC22A12 (RHUC type 1) or SLC2A9 2) genes, which encode transporters URAT1 GLUT9, respectively. In this study, our goal was to identify associated with twenty-one new cases...
Organisms regulate gene expression through changes in the activity of transcription factors (TFs). In yeast, response genes to TF is generally assumed be encoded promoter. To directly test this assumption, we chose 42 and, for each, replaced promoter with a synthetic inducible and measured how protein as function activity. Most exhibited gene-specific dose-response curves not due differences mRNA stability, translation, or stability. Instead, most have an intrinsic ability buffer effects...