Publications by authors named "S Kuznetsova"
The CRISPR/Cas technology of targeted genome editing made it possible to carry out genetic engineering manipulations with eukaryotic genomes with a high efficiency. Targeted induction of site-specific DNA breaks is one of the key stages of the technology. The cell repairs the breaks via one of the two pathways, nonhomologous end joining (NHEJ) and homology-driven repair (HDR).
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- Modern genetic engineering tools like base editing and prime editing offer efficient genome editing without needing donor templates or causing double-strand breaks in DNA.
- These techniques are praised for their accuracy, ease of use, and ability to edit multiple genes simultaneously.
- The review covers their design, creation methods, pros and cons, and potential applications in research areas like biology, biotechnology, medicine, and agriculture.
Article Synopsis
- Pathogenic variants in a specific gene are found to be the main cause of both non-syndromic and syndromic forms of inherited retinitis pigmentosa (RP), which leads to retinal degeneration and hearing loss.
- A study analyzed genetic data from 2415 patients in Russia to identify various pathogenic variants and their frequency in those with isolated RP versus those with the syndromic form.
- The research revealed key differences in genetic variants between the two groups, highlighting the need for better understanding of genotype-phenotype relationships to improve disease management and treatment options like cochlear implants.
[Polymorphism and modern diagnostic approaches for Leber congenital amaurosis].
Vestn Oftalmol
November 2024
Purpose: This study investigated the prevalence and morphofunctional characteristics of the retina in the diagnosis of various types of Leber congenital amaurosis (LCA) among patients from Moscow and the Moscow region, based on the data from the Consultative and Diagnostic Center of the Morozov Children's City Clinical Hospital.
Material And Methods: In order to analyze the polymorphism and prevalence of LCA, the study examined a total of 226 patients suspected of having hereditary retinal dystrophies, genetic diagnosis of Leber amaurosis was confirmed in 24 patients. All 24 patients underwent electrophysiological tests, including visual evoked potentials (VEP) from the sensory retina to the visual centers, and electroretinography (ERG) of the posterior pole of the retina.
Background: Standard approaches to the treatment of chronic post-radiation proctitis are associated with a high risk of complications and a high percentage of unsatisfactory results due to the reduced regenerative potential of irradiated tissues. Regenerative surgery techniques using the stromal-vascular cell fraction (SVF) based on the patient's autologous adipose tissue are a promising direction for study.
Clinical Case Description: A 76-year-old patient suffering from chronic post-radiation erosive-ulcerative proctitis, grade 4 according to RTOG-EORTC, complicated by recurrent profuse rectal bleeding, underwent local autotransplantation of SVF into the submucosal layer of the rectum and pararectal connective tissue.