Publications by authors named "Anna Y Voronkova"
Cystic fibrosis (CF, MIM# 219,700) is an autosomal recessive disease caused by pathogenic variants within the CFTR gene. It was shown that genetic variants located in cis can affect disease severity or treatment response because of additive or epistatic effects. Studies on the prevalence of complex alleles in Russian CF patients have just begun.
View Article and Find Full Text PDFThe problem of vitamin D deficiency is particularly relevant for the entire territory of Russia, since most parts of the country are located above the 42nd geographical latitude and the residents are therefore at risk of vitamin D deficiency. Despite the urgency of the problem, a comprehensive study of the molecular and genetic mechanisms and exogenous factors of vitamin D deficiency in children living in various geographical areas of the Russian Federation has not been conducted. Different variants in the loci of the genes responsible for the synthesis, hydroxylation, and transport of vitamin D (such as , and ), as well as gene polymorphisms may also be associated with the risk of vitamin D deficiency.
View Article and Find Full Text PDFThe goal was to study the phenotypic manifestations of c.3844T>C (p.Trp1282Arg, W1282R) variant, a CF-causing mutation, in patients from the Russian Federation.
View Article and Find Full Text PDFArticle Synopsis
- - The study investigates the genetic basis of cystic fibrosis (CF) in Russian patients, finding that common mutations account for 83% of CF-causing variants among 1,384 individuals.
- - In addition to previously known mutations, researchers identified 91 new pathogenic variants through advanced DNA sequencing techniques, enhancing the understanding of CF mutations in the Russian population.
- - The analysis successfully uncovered 163 previously unknown mutant alleles in the samples tested, illustrating a diverse mutation spectrum in Russian CF patients.