Bioinformatics Researchers Identify Twenty Potentially Pathogenic Mutations in Gene Associated with Pulmonary Arterial Hypertension
Researchers at HSE University, in collaboration with colleagues from other Russian institutions, have identified which mutations in the ACVRL1 gene may be pathogenic in patients with pulmonary arterial hypertension. The team modelled how genetic variations affect ATP binding to the protein—a process essential for transmitting signals required for normal vascular function. The researchers found that 20 of the 32 variants studied can disrupt signal transmission and are therefore likely to cause disease. The findings have been published in the Journal of Structural Biology.
HSE Scientists Develop DeepGQ: AI-based 'Google Maps' for G-Quadruplexes
Researchers at the HSE AI Research Centre have developed an AI model that opens up new possibilities for the diagnosis and treatment of serious diseases, including brain cancer and neurodegenerative disorders. Using artificial intelligence, the team studied G-quadruplexes—structures that play a crucial role in cellular function and in the development of organs and tissues. The findings have been published in Scientific Reports.
New gene regulation mechanism discovered
Article published in the International Journal of Molecular Science
Transfer training in bioinformatics
The article "Unsupervised domain adaptation methods for cross-species transfer of regulatory code signals" was published in the journal Frontiers in Big Data