Publications by authors named "Yulia V Tikhonovich"
Article Synopsis
- Bi-allelic pathogenic variations in a specific gene are linked to various hereditary disorders, including the rare Wiedemann-Rautenstrauch syndrome (WRS), which shows neonatal symptoms like growth issues and distinctive facial features.
- This study details a clinical case of a 7-year-old girl with WRS, where whole-exome sequencing revealed a novel missense variant and two intronic variants associated with the condition.
- The findings confirm the pathogenic nature of these genetic changes, contributing to the understanding of POLR3A-related disorders and highlighting the need for further research in the area.
One of the causes of diabetes in infants is the defect of the insulin gene (INS). Gene mutations can lead to proinsulin misfolding, an increased endoplasmic reticulum (ER) stress and possible beta-cell apoptosis. In humans, the mechanisms underlying beta-cell failure remain unclear.
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