Elena A. Sazhenova
Elena A. Sazhenova, PhD in biological Sciences, researcher of the Cytogenetic Laboratory, Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences.Contact details
e-mail: elena.sazhenova@medgenetics.ruPhone: 8 (3822) 51-31-46
Fax: 8 (3822) 51-37-44
Brief Biography
E. Sazhenova was born in 1970 and graduated from Tomsk State University in 1993. After graduating from the state University, she works at the Institute of medical genetics (Tomsk). She was trained in Russia and abroad (in the laboratory of Professor Albert Schinzel (Institute of Medical Genetics, Schwerzenbach, Switzerland)). Sazhenova defended her PhD thesis for the degree of candidate of biological sciences on the title: "Molecular variability of the cluster of imprinted genes in chromosome 15 in patients with Prader-Willi and Angelman syndromes" in 2004.
Research Interests
The main field of activity of Elena Sazhenova is devoted to the study of the phenomenon of genomic imprinting in prenatal and postnatal human development. She is author and co-author of more than 180 scientific publications, including 96 articles in peer-reviewed journals, including “Molecular Neurobiology”, "Gene", "Fertility and Sterility", "European Journal of Human Genetics".
Achievements, awards, and grants
E. Sazhenova takes an active part in the implementation of scientific projects supported by the Russian Foundation for basic research, the Russian Scientific Foundation, 7th Framework Programme of the European Union. Elena Sazhenova for the first time showed that multiple epimutations of imprinted genes can be one of the causes of abnormal human embryo development in the first trimester of pregnancy. The scientific achievements of E. Sazhenova were awarded the Diploma of the Foundation for the promotion of national medicine of the Russian Academy of Medical Sciences, the diplomas of the Tomsk Administration for scientific work and assistance to practical health care.
Patent
Sazhenova E. A., Nikitina T. V., Lebedev I. N. Method of prevention recurrent pregnancy loss // № 2659152, registration date 28.06.2018.
Main Publications
Educational and methodical manualNazarenko S. A., Sazhenova E. A. Uniparental disomy and genomic imprinting diseases// Educational and methodical manual / S. Nazarenko, E. Sazhenova. Tomsk. 2004.
Articles
1. Nikitina T.V., Sazhenova E.A., Zhigalina D.I., Tolmacheva E.N., Sukhanova N.N., Lebedev I.N. Karyotype evaluation of repeated abortions in primary and secondary recurrent pregnancy loss // J Assist Reprod Genet. 2020. V. 37(3). P.517-525. doi: 10.1007/s10815-020-01703-y. https://link.springer.com/article/10.1007/s10815-020-01703-y.
2. Sazhenova E.A., Lebedev I.N. Epigenetic mosaicism in genomic imprinting disorders // Russian Journal of Genetics. 2019. Т. 55. № 10. С. 1196-1207. Doi: 10.1134/S1022795419100119. https://link.springer.com/article/10.1134%2FS1022795419100119
3. Kashevarova A.A., Skryabin N.A., Nikitina T.V., Lopatkina M.E., Sazhenova E.A., Zhigalina D.I., Savchenko R.R., Lebedev I.N. Ontogenetic pleiotropy of genes involved in CNVs in human spontaneous abortions // Russian Journal of Genetics. 2019. Т. 55. № 10. С. 1214-1226. Doi: 10.1134/S1022795419100065. https://link.springer.com/article/10.1134/S1022795419100065.
4. Gridina M.M, Matveeva N.M., Fishman F.S., Menzorov A.G., Kizilova H.A., Beregovoy N.A., Kovrigin I.I., Pristyazhnyuk I.E., Oscorbin I.P., Filipenko M.L., Kashevarova A.A., Skryabin N.A., Nikitina T.V., Sazhenova E.A., Nazarenko L.P., Lebedev I.N., Serov O.L. Allele-specific biased expression of the CNTN6 gene in IPS cell-derived neurons from a patient with intellectual disability and 3p26.3 microduplication involving the CNTN6 gene // Molecular Neurobiology. 2018. V. 55. № 8. P. 6533-6546. doi.org/10.1007/s12035-017-0851-5. http://www.fertstert.org/article/S0015-0282(04)03201-7/abstract.
5. Sazhenova E.A., Nikitina T.V., Markov A.V., Skryabin N.A., Vasilyev S.A., Tolmacheva E.N., Nazarenko M.S., Lebedev I.N Methylation index of imprinted genes GRB10 and GNAS in abnormal human embryo development // Medical Genetics (Rus). 2018. V. 17. № 3. P. 364-377. https://elibrary.ru/item.asp?id=32660682.
6. Nikitina T.V., Zhigalina D.I., Sazhenova E.A., Tolmacheva E.N., Skryabin N.A., Lebedev I.N.1 Non-random distribution of embryonic kariotypes in women with recurrent pregnancy losses // Medical Genetics (Rus). 2018. V. 17. №. 1. P.50-56. https://elibrary.ru/item.asp?id=30708893.
7. Sazhenova E.A., Nikitina T.V., Skryabin N.A., Minaycheva L.I., Lebedev I.N., Ivanova T.V., Nemtseva T.N., Yuriev S.Y., Evtushenko I.D. Epigenetic status of imprinted genes in placenta during recurrent pregnancy loss // Russian Journal of Genetics. 2017. V. 53. № 3. P. 376-387. https://elibrary.ru/item.asp?id=29504002.
8. Tolmacheva E.N., Vasil'ev S.A., Sazhenova E.A., Nikitina T.V., Mel'nikov A.A., Lebedev I.N., Zhigalina D.I., Grigorovich E.I., Zhabina E.S., Ivanova T.V., Evtushenko I.D. Skewed X-chromosome inactivation in human miscarriages // Cell and Tissue Biology. 2016. Т. 10. № 1. С. 55-59. Doi: 10.1134/S1990519X16010119. https://link.springer.com/article/10.1134%2FS1990519X16010119.
9. Vasilyev S.A., Urazova A.S., Nikitina T.V., Sazhenova E.A., Tolmacheva E.N., Agab A.V., Zhigalina D.I., Lebedev I.N. Loss of chromosome fragments or whole chromosomes in fibroblasts of extraembryonic mesoderm of spontaneous abortions with aneuploidy and triploidy // Medical Genetics (Rus). 2016. V. 15. № 4. P. 14-16. https://elibrary.ru/item.asp?id=26682330.
10. Nikitina T.V., Sazhenova E.A., Tolmacheva E.N., Sukhanova N.N., Kashevarova A.A., Skryabin N.A., Vasilyev S.A., Nemtseva T.N., Yuriev S.Y., Lebedev I.N. Comparative cytogenetic analysis of spontaneous abortions in recurrent and sporadic pregnancy losses // Biomedicine Hub. 2016. 1:446099. DOI: 10.1159/000446099. https://www.karger.com/Article/Pdf/446099.
11. Tolmacheva E.N., Vasilyev S.A., Sazhenova E.A., Zhigalina D.I., Grigorovich E.I., Nikitina T.V., Melnikov A.A., Zhabina E.S., Ivanova T.V., Evtushenko I.D., Lebedev I.N. Skewed X chromosome inactivation in human miscarriages // Tsitologia. 2015. V. 57. № 11. P. 808-812. http://elibrary.ru/item.asp?id=24638153.
12. Sazhenova E.A., Lebedev I.N. Standards for molecular genetic diagnosis of genomic imprinting diseases on the example of Prader-Willi and Angelman syndromes // Medical Genetics (Rus). 2015. V. 14. № 9. P. 2-10. http://elibrary.ru/item.asp?id=24415932.
13. Vasilyev S.A., Tolmacheva E.N., Kashevarova A.A., Sazhenova E.A., Lebedev I.N. Methylation status of LINE-1 retrotransposon in chromosomal mosaicism during early stages of human embryonic development // Molecular Biology. 2015. V. 49. № 1. P. 144-152. Doi: 10.1134/S0026893314060193. https://link.springer.com/article/10.1134/S0026893314060193.
14. Sazhenova E.A., Lepshin M.V., Lebedev I.N. Multiple epimutations of imprintome in human reproductive pathology // Medical Genetics (Rus). 2014. V. 13. № 3. P. 19-27. http://elibrary.ru/item.asp?id=22991751.
15. Lepshin M.V., Sazhenova E.A., Lebedev I.N. Multiple epimutations in imprinted genes in the human genome and congenital disorders // Russian Journal of Genetics. 2014. М. 50. № 3. З. 221-236. Doi: 10.1134/S1022795414030053. https://link.springer.com/article/10.1134%2FS1022795414030053.
16. Kashevarova A.A., Nazarenko L.P., Skryabin N.A., Salyukova O.A., Chechetkina N.N., Tolmacheva E.N., Sazhenova E.A., Magini P., Graziano C., Romeo G., Kučinskas V., Lebedev I.N. Array CGH analysis of a cohort of Russian patients with intellectual disability // Gene. 2014. V. 536. № 1. P. 145-150. Doi: 10.1016/j.gene.2013.11.029. http://www.sciencedirect.com/science/article/pii/S0378111913015552.
17. Kashevarova A.A., Skryabin N.A., Cheremnykh A.D., Tolmacheva E.N., Sazhenova E.A., Salyukova O.A., Chechetkina N.N., Didenko L.I., Sukhanova N.N., Yakovleva Y.S., Torkhova N.B., Nazarenko L.P., Lebedev I.N., Magini P., Graziano C., Romeo G. Clinical and genetic characteristics of undifferentiated mental retardation based on array CGH // Journal of neurology and psychiatry named after S. S. Korsakov. 2013. V. 113. № 9. P. 70-74. http://elibrary.ru/item.asp?id=20306970.
18. Sazhenova E.A., Skryabin N.A., Sukhanova N.N., Lebedev I.N. Multilocus epimutations of imprintome in the pathology of human embryo development // Molecular Biology. 2012. V. 46. № 2. P. 183-191. Doi: 10.1134/S0026893312010207. https://link.springer.com/article/10.1134%2FS0026893312010207.
19. Kashevarova A.A., Tolmacheva E.N., Sazhenova E.A., Sukhanova N.N., Lebedev I.N. Epigenetic status of cell cycle regulation genes in the placenta of human embryos with chromosomal mosaicism // Molecular Biology. 2011. V. 45. № 2. С. 283-290. Doi: 10.1134/S0026893311020105. https://link.springer.com/article/10.1134%2FS0026893311020105.
20. Sazhenova E.A., Lebedev I.N. Epimutations of imprinted PLAGL1 gene in recurrent pregnancy loss // Russian Journal of Genetics. 2010. V. 9. № 11. P. 34-38. https://elibrary.ru/item.asp?id=16351942.
21. Kashevarova A.A., Tolmacheva E.N., Sukhanova N.N., Sazhenova E.A., Lebedev I.N. Estimation of the mehylation status of the promoter region of the cell cycle control gene P14ARF in placental tissues of spontaneous abortions with chromosomal mosaicism // Russian Journal of Genetics. 2009. V. 45. № 6. P. 749-755. https://elibrary.ru/item.asp?id=13601978.
22. Sazhenova E.A., Filippova M.O., Lebedev I.N. Epigenetic perspectives of hydatidiform mole: mechanisms of genomic imprinting disorders and issues of molecular genetic diagnostics // Medical Genetics (Rus). 2009. V. 8. № 3. P. 3-12. https://elibrary.ru/item.asp?id=16352256.
23. Lebedev I.N., Sazhenova E.A. Epimutations of imprinted genes in the human genome: classification, causes, association with hereditary pathology // Russian Journal of Genetics. 2008. V. 44. № 10. P. 1176-1190. http://elibrary.ru/item.asp?id=11532781.
24. Tolmacheva E.N., Kashevarova A.A., Sukhanova N.N., Sazhenova E.A., Lebedev I.N. Epigenetic inactivation of the RB1 gene as a factor of genomic instability: a possible contribution to etiology of chromosomal mosaicism during human embryo development // Russian Journal of Genetics. 2008. V. 44. № 11. P. 1266-1271. https://elibrary.ru/item.asp?id=13574725.
25. Sazhenova E.A., Lebedev I.N. Epimutations of the KCNQ1OT1 imprinting center of chromosome 11 in early human embryolethality // Russian Journal of Genetics. 2008. V. 44. № 12. P. 1394-1399. https://elibrary.ru/item.asp?id=13584555.
26. Kashevarova A.A., Sukhanova N.N., Tolmacheva E.N., Sazhenova E.A., Lebedev I.N. Retrospective molecular-cytogenetic characteristics of tetraploidy in early embryolethality of man // Tsitologiya. 2007. V. 49. № 4. P. 322-328. https://elibrary.ru/item.asp?id=14981280.
27. Sazhenova E.A., Lebedev I.N., Nazarenko S.A., Nazarenko L.P., Filimonova M.N., Koryagina O.J., Napalkova O.V., Maslennikov A.B. Genotype-phenotype correlation in patients with clinical features of Prader-Willi syndrome // Medical Genetics (Rus). 2006. V. 5. № 1. P.24-30. https://elibrary.ru/item.asp?id=9177165.
28. Nikitina T.V., Lebedev I.N., Sukhanova N.N., Sazhenova E.A., Nazarenko S.A. А mathematical model for evaluation of maternal cell contamination in cultured cells from spontaneous abortions: significance for cytogenetic analysis of prenatal selection factors // Fertility and Sterility. 2005. V. 83. № 4. P. 964-972. http://www.fertstert.org/article/S0015-0282(04)03201-7/abstract.
29. Nikitina T.V., Lebedev I.N., Sukhanova N.N., Sazhenova E.A., Nazarenko S.A. Maternal cell contamination of cultures of spontaneous abortion fibroblasts: importance for cytogenetic analysis of embryonic lethality // Russian Journal of Genetics. 2004. V. 40. № 7. P. 800-809. https://elibrary.ru/item.asp?id=14560606.
30. Nazarenko S., Sazhenova E., Baumer A., Schinzel A. Segmental maternal heterodisomy of the proximal part of chromosome 15 in an infant with Prader-Willi syndrome // European Journal of Human Genetics. 2004. V. 12. № 5. P. 411-414. DOI: 10.1038/sj.ejhg.5201168. http://www.nature.com/ejhg/journal/v12/n5/full/5201168a.html.
31. Nikitina T.V., Sazhenova E.A., Sukhanova N.N., Lebedev I.N., Nazarenko S.A. Evaluation of the Role of Uniparental Disomy in Early Embryolethality of Man // Ontogenesis. 2004. V. 35. № 4. P. 297-306. http://elibrary.ru/item.asp?id=17712844.
32. Nazarenko L.P., Sazhenova E.A., Nazarenko S.A., Banschikova E.S. A search for mutations in the DIA1 gene in case of hereditary methemoglobinemia type I in the Yakut population // Russian Journal of Genetics. 2003. V. 39. № 6. P. 715-718. https://elibrary.ru/item.asp?id=13418325.