A de novo microtriplication at 4q21. 21‐q21. 22 in a patient with a vascular malignant hemangioma, elongated sigmoid colon, developmental delay, and absence of …

…, NA Skryabin, NP Babushkina… - American Journal of …, 2016 - Wiley Online Library
The widespread application of array comparative genomic hybridization (aCGH) has provided
new insights into the clinical significance of copy number variations (CNVs) in the human …

[HTML][HTML] Application of Long-Read Nanopore Sequencing to the Search for Mutations in Hypertrophic Cardiomyopathy

…, EN Pavlyukova, AA Zarubin, NP Babushkina… - International Journal of …, 2022 - mdpi.com
Increasing evidence suggests that both coding and non-coding regions of sarcomeric
protein genes can contribute to hypertrophic cardiomyopathy (HCM). Here, we introduce an …

[HTML][HTML] Impact of the Polymorphism of the PACRG and CD80 Genes on the Development of the Different Stages of Tuberculosis Infection

EY Bragina, NP Babushkina, AF Garaeva… - Iranian Journal of …, 2019 - ncbi.nlm.nih.gov
Background: Tuberculosis (TB) is one of the most significant health-care problems worldwide.
The host’s genetics play an important role in the development of TB in humans. The …

[PDF][PDF] Variability and structure of the repetitive region of the major royal jelly protein gene mrjp3 in honeybee Apis mellifera of different evolutionary branches

…, AN Kucher, NP Babushkina… - Journal of …, 2018 - pdfs.semanticscholar.org
An assessment of the genetic diversity of the microsatellite locus mrjp3 in honeybee of European
Apis mellifera subspecies was conducted. Differences in the frequency of alleles for the …

The role of repair genes in the pathogenesis of Parkinson's disease

M Nikitina, N Babushkina, E Bragina… - Journal of the …, 2021 - jns-journal.com
Methods Two groups were studied (homogeneous by gender, age): I–109 patients with
Parkinson's disease (PwPD)(mean age: 66.3±9.6; onset age: 58, 16±9, 55; H&Y stages 1–4), II–…

Associations of methylation level of promoter region of MLH1 gene and genotypes of the exonic rs1799977

N Babushkina, R Salakhov, A Zarubin… - … BIOLOGY (BGRS/SB …, 2020 - elibrary.ru
The eQTL SNP in exon 8 of the MLH1 gene-rs1799977, may affect the methylation level of
the promoter region of the same gene. When studying both the effects of methylation level …

Specificity of genetic predisposition to tuberculosis in native and immigrant Siberian populations

A Rudko, E Bragina, M Freidin, N Babushkina, A An… - 2013 - Eur Respiratory Soc
There is a difference in prevalence of tuberculosis (TB) among ethnically divergent Siberian
populations with highest rates of disease among aboriginal Asian populations. Given the …

The role of genes IL10 (rs1800872) and TNF (rs2239704) in the pathogenesis of bronchial asthma and tuberculosis

I Zhalsanova, E Bragina, M Freidin, N Babushkina… - 2018 - Eur Respiratory Soc
Introduction: Asthma (BA) and tuberculosis (TB) are major health burden in the world.
Epidemiological observations identified rare coexistence of both diseases in the same patient. We …

Bioinformatics approach identified of novel genes of tuberculosis susceptibility

E Bragina, A Rudko, E Tiys, N Babushkina… - 2016 - Eur Respiratory Soc
Tuberculosis (TB) is infection disease caused by Mycobacterium tuberculosis; however,
genetic background of individuals shows influences on susceptibility to disease. Our goal is to …

[CITATION][C] Characteristics of DNA methylation of the regulatory region of the MLH1 gene in peripheral blood leukocytes of patients with common age-related …

NP Babushkina, AV Markov… - EUROPEAN …, 2022 - … , 4 CRINAN ST, LONDON, N1 9XW …