Publications by authors named "Emil Valeev"
The aim of this work was to identify genetic variants potentially involved in familial hypercholesterolemia in 43 genes associated with lipid metabolism disorders. Targeted high-throughput sequencing of lipid metabolism genes was performed (80 subjects with a familial-hypercholesterolemia phenotype). For patients without functionally significant substitutions in the above genes, multiplex ligation-dependent probe amplification was conducted to determine bigger mutations (deletions and/or duplications) in the promoter and exons.
View Article and Find Full Text PDFBackground: The Hi-C technique is widely employed to study the 3-dimensional chromatin architecture and to assemble genomes. The conventional in situ Hi-C protocol employs restriction enzymes to digest chromatin, which results in nonuniform genomic coverage. Using sequence-agnostic restriction enzymes, such as DNAse I, could help to overcome this limitation.
View Article and Find Full Text PDFArticle Synopsis
- - Maturity onset diabetes of the young (MODY) is a genetic form of diabetes that appears in young individuals, caused by defects in pancreatic beta-cell function, with 14 known subtypes linked to specific gene mutations.
- - The most common MODY subtypes are linked to mutations in genes such as HNF1A, GCK, and HNF4A, with up to 70% of cases arising from HNF1A and HNF4A mutations.
- - In a study of 178 patients in Western Siberia, novel mutations were identified in several MODY genes among 38 individuals, highlighting the genetic diversity and complexity of this condition.