НШ

Н.В. Шилова

Research Centre for Medical Genetics

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ЖМ

Ж.Г. Маркова

Research Centre for Medical Genetics

ММ

М.Е. Миньженкова

Research Centre for Medical Genetics

ВА

В.Г. Антоненко

ВБ

В. Б. Черных

Pirogov Russian National Research Medical University

T. V. Zolotukhina

The Russian Presidential Academy of National Economy and Public Administration

D. A. Yurchenko

Research Centre for Medical Genetics

Andrey V. Marakhonov

Research Centre for Medical Genetics

АТ

А.А. Тарлычева

Research Centre for Medical Genetics

Sergey I. Kutsev

Research Centre for Medical Genetics

Ilya V. Kanivets

Ministry of Health of the Russian Federation

Cooperative Institutions

Research Centre for Medical Genetics

105

Russian Academy of Sciences

Ministry of Health of the Russian Federation

Research Institute of Medical Genetics of Russian Academy of Medical Sciences

Academy of Medical Sciences

Pirogov Russian National Research Medical University

Siberian Branch of the Russian Academy of Sciences

Institute of Cytology and Genetics

Novosibirsk State University

Sechenov University

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Cytogenetic analysis as a factor in the prevention of non-developing pregnancy

Фарматека (2021)

A.I. Chepurnaya Chepurnaya A.D. Ermakova Ermakova E.V. Sudakova Sudakova A.S. Ivanyuk Ivanyuk Н.В. Шилова

Factor (programming language)

10.18565/pharmateca.2021.6.84-90

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Citations (0)

An Exposure to the Oxidized DNA Enhances Both Instability of Genome and Survival in Cancer Cells

PLoS ONE (2013)

Svetlana V. Kostyuk Marina S. Konkova Elizaveta S. Ershova Anna Yu. Alekseeva T. D. Smirnova

BackgroundCell free DNA (cfDNA) circulates throughout the bloodstream of both healthy people and patients with various diseases and acts upon the cells. Response to cfDNA depends on concentrations and levels of the damage within cfDNA. Oxidized extracellular DNA acts as a stress signal and elicits an adaptive response. Principal FindingsHere we show that oxidized extracellular DNA stimulates the survival of MCF-7 tumor cells. Importantly, in cells exposed to oxidized DNA, the suppression of cell death is accompanied by an increase in the markers of genome instability. Short-term exposure to oxidized DNA results in both single- and double strand DNA breaks. Longer treatments evoke a compensatory response that leads to a decrease in the levels of chromatin fragmentations across cell populations. Exposure to oxidized DNA leads to a decrease in the activity of NRF2 and an increase in the activity of NF-kB and STAT3. A model that describes the role of oxidized DNA released from apoptotic cells in tumor biology is proposed. Conclusions/SignificanceSurvival of cells with an unstable genome may substantially augment progression of malignancy. Further studies of the effects of extracellular DNA on malignant and normal cells are warranted.

10.1371/journal.pone.0077469

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Citations (31)

Advanced neonatal screening for hereditary diseases in Russia: first results and future prospects

PEDIATRIA Journal named after G N SPERANSKY (2024)

S.V. Voronin Ekaterina Zakharova Galina Baydakova Andrey V. Marakhonov Olga Shchagina

Under the implementation of the “Advanced neonatal screening” Federal Program and the Ministry of Healthcare of Russia Order No. 274n “On approval of the Procedure for providing medical care to patients with congenital and/or hereditary diseases” that started jointly on Jan. 01, 2023 overall Russia, the examination of all newborns for the 29 nosologies of exchange disorders by tandem mass spectrometry as well as spinal muscular atrophy and primary immunodeficiencies by polymerase chain reaction had begun. Circa 1 million and 230 thousand newborns were examined in 85 Russia regions during 2023 with the level of births coverage exceeding 98%. As a result, a risk group that amounted to 1.86% of all examined was formed with confirming diagnostics performed for 8712 neonatal patients at risk, of which 676 have had their deceases confirmed including 379 hereditary metabolic diseases, 117 spinal muscular atrophies and 180 primary immunodeficiencies. Effective treatment and dispensary follow-up methods have been developed so far for all the screened nosologies. Thus, the introduction of the neonatal screening made it possible to initiate therapy for most of the identified patients at preclinical stages reducing the overall infant mortality and improving the quality of life for such patients and their caretakers.

Christian ministry

10.24110/0031-403x-2024-103-1-16-29

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Citations (7)

Метод фильтрации для выделения трофобластов из образцов периферической крови с целью детекции анеуплоидий в единичных клетках плодного происхождения

Медицинская генетика (2016)

E. Musatova А. В. Мартынов Ж.Г. Маркова И. И. Витязева Н.В. Шилова

Non-invasive prenatal diagnosis of chromosomal disorders is a topical area of modern prenatal medicine. Identification of chromosomal status of the fetus avoiding invasive procedures perhaps by analyzing of trophoblasts circulating in peripheral maternal blood. In this article, we present the results of a model experiment for isolation of trophoblast cells from peripheral blood samples by filtration through polycarbonate filters. Isolation of single cells was performed by laser microdissection followed by a whole genome amplification step. Analysis of genetic material isolated cells was performed by comparative genomic hybridization.

Microdissection

Comparative genomic hybridization

Laser capture microdissection

Isolation

10.1234/xxxx-xxxx-2016-1-38-42

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Age-dependent gonosomal mosaicism in fertile women of reproductive age

Nauchno-prakticheskii zhurnal «Medicinskaia genetika» (2020)

А.А. Тарлычева Ж.Г. Маркова Т.Б. Волкова Н.В. Шилова

Для установления уровня тканеспецифичного гоносомного мозаицизма у здоровых женщин репродуктивного возраста проведено молекулярно-цитогенетическое исследование культивированных лимфоцитов периферической венозной крови (КЛ), некультивированных лимфоцитов периферической венозной крови (НКЛ) и клеток буккального эпителия (БЭ). Установлено, что в КЛ присутствует низкоуровневый гоносомный мозаицизм с тенденцией к повышению частоты клеток с Х-анеуплоидией с увеличением возраста женщины. Средняя частота клеток с моносомией и трисомией по X хромосоме составляет соответственно 1,83% и 0,66% в группе женщин в возрасте 20-29 лет; 2,23% и 0,86% - в возрасте 30-39 лет и 5,88% и 1,95% - в возрасте 40-49 лет. Средняя частота анеуплоидных клеток в НКЛ статистически значимо не отличалась от таковой в КЛ. В БЭ средняя частота мозаичной Х-анеуплоидии во всех возрастных группах составляет 4,01%. Таким образом, нами определён уровень гоносомного мозаицизма в лимфоцитах и БЭ здоровых фертильных женщин и разработан протокол обследования пациентов при обнаружении низкоуровневого мозацизма по хромосоме X. The aim of study was to evaluate X-chromosome mosaicism in health fertile women from different age groups. We found physiological low-level gonosomal mosaicism in peripheral blood lymphocytes with a clear trend in increased proportion of X-aneuploidic cells associated with the increasing age to 1.83%, 2.23% and 5.88% for 20-29, 30-39 and 40-49 years, respectively. The buccal smear also exhibited physiological pattern of a low-level X-chromosome mosaicism, however, the level of gonosomal mosaicism with no statistically significant difference between groups, average level was 4.01%. The obtained data allow to developed diagnostic protocol of low-level X-chromosome mosaicism in fertile women.

10.25557/2073-7998.2019.02.35-41

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Thyramide Signal Amplification: New Opportunities for DNA in Situ Hybridization

Cell and Tissue Biology (2023)

E. О. Vorontsova D. A. Yurchenko Н.В. Шилова

Hybridization probe

Molecular cytogenetics

Molecular beacon

Molecular probe

10.1134/s1990519x23060159

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Методы полногеномной амплификации генетического материала едничных клеток

Медицинская генетика (2017)

А. А. Твеленёва E. Musatova Н.В. Шилова

Analysis of the genetic material of single cells is a very urgent task for such fields of science as oncology, forensic medicine, preimplantation genetic diagnosis. Whole genome amplification is an indispensable stage in the study of single cells. Among methods of whole genome amplification, methods based on thermocycling and isothermal methods are distinguished. Each of the methods of whole genome amplification should ensure the maximum possible representation and proportionality of all parts of the investigated genome, and also have a minimal bias, that is, it is most accurate to represent the primary DNA sequence in products of whole genome amplification. These characteristics can be influenced by the types of primers, polymerases used in the methods of whole genome amplification, as well as the initial quality and quantity of the DNA being studied. Therefore, depending on the protocol used, the quality of the amplification may vary significantly, which should undoubtedly be taken into account when choosing the method of whole genome amplification in accordance with the intended purpose of the study.

Multiple displacement amplification

Source

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Comparison of Amplification Methods of Single Trophoblast Cells for Their Subsequent Analysis Using Metaphase Comparative Genomic Hybridization

Russian Journal of Genetics (2018)

E. Musatova A. A. Tveleneva А. В. Мартынов Ж.Г. Маркова Н.В. Шилова

Multiple displacement amplification

Comparative genomic hybridization

genomic DNA

10.1134/s1022795418090107

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Citations (1)

Practical recommendations to ensure quality and safety of cytogenetic research

Nauchno-prakticheskii zhurnal «Medicinskaia genetika» (2019)

Т. В. Кузнецова Н.В. Шилова М Г Творогова Tatiana V. Kharchenko И.Н. Лебедев

Практические рекомендации (ПР) по обеспечению качества и надежности пренатальных и постнатальных цитогенетических исследований подготовлены рабочей группой Российского общества медицинских генетиков. Их основой послужили Европейские стандарты для цитогенетических и молекулярно-цитогенетических исследований конститутивных и приобретенных хромосомных аномалий, подготовленные постоянной рабочей группой «Цитогенетики и общество» Европейской цитогенетической ассоциации (Е.С.А.). ПР посвящены цитогенетической диагностике конститутивных нарушений, направлены на стандартизацию лабораторно-генетической службы и призваны способствовать совершенствованию цитогенетической службы РФ. В ПР рассматривают вопросы контроля качества и надежности цитогенетических и молекулярно-цитогенетических методов, используемых в цитогенетических лабораториях в настоящее время. The Working group of Russian Society of Medical Geneticists prepared these Recommendations based on General Guidelines and Quality Assurance for Cytogenetics: a common European framework for quality assessment for constitutional,acquired and molecular cytogenetic investigations (European Cytogeneticists Association (E.C.A.) Permanent Working Group for Cytogenetics and Society). This document is devoted to prenatal and postnatal (molecular) cytogenetic diagnosis of the constitutional chromosomal abnormalities, is aimed to define quality framework and to improve the activity of cytogenetic laboratories in Russian Federation. The Recommendations include aspects of quality control and safety for most of the methods currently employed by cytogenetic laboratories.

Molecular cytogenetics

Working group

10.25557/2073-7998.2019.05.3-27

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Citations (5)

The course and outcome of pregnancies in women with an episode of missed miscarriage after a comprehensive rehabilitation

Фарматека (2019)

A.Yu. Druzhinina Druzhinina Mukhamednazar Soyunov S.R.D. Connon Connon Н.В. Шилова

Course (navigation)

10.18565/pharmateca.2019.6.20-25

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Citations (0)