A5094154433- Computational Drug Discovery Methods
- Molecular Biology Techniques and Applications
- Alzheimer's disease research and treatments
- Prenatal Screening and Diagnostics
- Renin-Angiotensin System Studies
- Cervical Cancer and HPV Research
- CRISPR and Genetic Engineering
- Receptor Mechanisms and Signaling
- Genital Health and Disease
- Cholinesterase and Neurodegenerative Diseases
- Reproductive tract infections research
Pirogov Russian National Research Medical University
2024-2025
Introduction Human papilloma virus (HPV) is the most common sexually transmitted infection worldwide. Cervicovaginal microbiota plays an important role in HPV and associated with development of squamous intraepithelial lesions (SIL). The natural history cervical cancer involves reversible changes tissue from a normal state, which no neoplastic are detected epithelium, to varying states cellular abnormalities that ultimately lead cancer. Low-grade SIL (LSIL), like another cytological category...
Abstract Whole exome sequencing (WES) is essential for identifying genetic variants linked to diseases. This study compares available date four enrichment kits: Agilent SureSelect Human All Exon v8, Roche KAPA HyperExome Probes, Vazyme VAHTS Target Capture Core Exome Panel, and Nanodigmbio NEXome Plus Panel v1. We evaluated target design, coverage statistics, variant calling accuracy across these different capture products. kits showed high completeness, with mean x10 exceeding 97.5% x20...
Analysis of existing mutations Angiotensin-I-Converting Enzyme (ACE) led us to hypothesize that the carriers damaging ACE (accompanied by low levels) could be at risk for development late-onset Alzheimer's disease (AD).
Our recent analysis of 1200+ existing missense ACE mutations revealed that 400+ are damaging and led us to hypothesize carriers heterozygous loss-of-function (LoF) (which result in low levels) could be at risk for the development late-onset Alzheimer's disease (AD).
An analysis of 1300+ existing ACE mutations revealed that 400+ are damaging and led us to hy-pothesize carriers heterozygous loss-of-function (LoF) (which result in low levels) could be at risk for the development late-onset Alzheimer’s disease (AD) [Danilov, 2024]. Here we quantified blood levels EDTA-plasma from 41patients with 10 different mutations, as well 33 controls, estimated effect these on phenotype using a set mAbs two substrates. We found relatively frequent (~1%) AD-associated N...
Abstract This study evaluates primary template-directed amplification (PTA) for whole exome sequencing (WES) on small fibroblast cell groups, mimicking the limited quantities typical of trophectoderm embryo biopsies. PTA’s consistent reduces allelic dropout (ADO) and impoves uniform coverage, overcoming challenges associated with conventional methods such as multiple displacement (MDA). Using samples alongside well-characterised genomic references (E701, NA12878), we benchmarked PTA-WES,...