A5058745212- Skin and Cellular Biology Research
- Hair Growth and Disorders
- Nicotinic Acetylcholine Receptors Study
- Neonatal Respiratory Health Research
- Hearing, Cochlea, Tinnitus, Genetics
- Trace Elements in Health
- Environmental and Biological Research in Conflict Zones
- Bone Metabolism and Diseases
- Diabetes and associated disorders
- Cystic Fibrosis Research Advances
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Erythrocyte Function and Pathophysiology
- Pancreatic function and diabetes
- Congenital heart defects research
- RNA regulation and disease
- Pharmacological Effects of Medicinal Plants
- Biochemical and Molecular Research
- Respiratory viral infections research
- Connexins and lens biology
Perinatal Institute
2012-2021
Chuvash State University
2006-2016
Ministry of Health of the Russian Federation
2009-2016
Mental Health Research Center of Russian Academy of Medical Sciences
2006
University of Massachusetts Chan Medical School
2006
Neuropsychiatric Research Institute
2006
Lomonosov Moscow State University
2006
Research Medical Center
2006
The molecular mechanisms controlling human hair growth and scalp loss are poorly understood. By screening about 350,000 individuals in two populations from the Volga-Ural region of Russia, we identified a gene mutation families who show an inherited form defect. Affected were homozygous for deletion LIPH on chromosome 3q27, caused by short interspersed nuclear element-retrotransposon-mediated recombination. is expressed follicles encodes phospholipase called lipase H (alternatively known as...
Hereditary nonsyndromic sensorineural hearing loss is a disease in which occurs due to damage the organ of inner ear, auditory nerve, or center brain that responsible for perception sound, characterized by wide locus and allelic heterogeneity different types inheritance. Given diversity population Russian Federation, it seems necessary study ethnic characteristics molecular causes disease. The aim genetic hereditary Chuvash, fifth largest group Russia. DNA samples 26 patients from 21...
Maturity-onset diabetes of the young (MODY) is a heterogeneous group disorders characterised by autosomal dominant type inheritance and caused genetic defects leading to dysfunction pancreatic beta-cells. To date, at least 13 subtypes MODY have been described in literature, most frequent which are types 13. MODY2 MODY3 prevalent subtypes, were previously our country, Russia. Several cases rare subsequently Russian literature. The current report first literature present clinical molecular...
Background. Glutaric aciduria type 1 is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes enzyme glutaryl‑CoA dehydrogenase. Metabolic crisis glutaric acute life‑threatening condition that requires careful diagnosis with a number of other conditions and immediate initiation pathogenetic therapy. Materials methods. Clinical manifestations, neuroimaging characteristics were studied 46 patients diagnosed confirmed biochemical molecular genetic Methods: gas...