Personalities

Maria E. Lopatkina

Maria E. Lopatkina, Junior researcher of the Laboratory of the Genomics of Orphan Diseases at the Research Institute of Medical Genetics, Tomsk National Research Medical Center. Postgraduate student at the Research Institute of Medical Genetics.

Contact details

e-mail: maria.lopatkina@medgenetics.ru
Phone: 8 (3822) 51-31-46
8 (3822) 51-37-44

Education

University education (2009 – 2015): Siberian State Medical University, Medical-biological faculty. Speciality: Medical biochemistry.
Medical residency (2015 – 2017): Research Institute of Medical Genetics (Tomsk National Research Medical Center). Speciality: Genetics.
Professional retraining (Sep. 2017 – Dec. 2017): Siberian State Medical University. Speciality: Laboratory genetics.
Postgraduate study (Sep. 2017 – current): Research Institute of Medical Genetics (Tomsk National Research Medical Center). Laboratory of Cytogenetics. Speciality: Genetics.

Professional Experience

Junior researcher (Sep. 2017 – Jan. 2018) – Laboratory of Cytogenetics

Laboratory geneticist (Jan. 2018 – Sep. 2019) – Laboratory of Molecular Diagnostics

Junior researcher (Sep. 2019 – current) – Laboratory of the Genomics of Orphan Diseases

Research Experience

PhD thesis: “Cellular and molecular effects of CNV affecting the CNTN6 gene in a model system of iPSC-derived neurons”. Supervisor: Prof. Igor Lebedev Dr. Sci. (Biol.), Prof., and Svetlana Ivanova, Dr. Sci. (Med.), Prof.

Research interests of Maria refer to the cytogenetics of intellectual disorders, mechanisms of chromosomal mutation formation and investigation of their role in the development of hereditary diseases.

Maria Lopatkina is an author and co-author of more than 62 publications published in top-rated Russian and foreign scientific journals.

Achievements, awards, and grants

Maria Lopatkina has participated in 9 grant projects of Ministry of Education and Science of the Russian Federation, Federal target program, Russian Foundation for Basic Research, and Russian Science Foundation.

Maria was awarded a Presidential Scholarship (2018-2019), and RFBR Research grant for PhD students (2019-2021). 

Main Publications

1.       Lopatkina M.E., Lebedev I.N. Transcriptome Analysis as a Tool for Investigation of Pathogenesis of Chromosomal Diseases. Russian Journal of Genetics. 2020. Vol. 56. N. 5. p. 534-549. doi: 10.31857/S0016675820050094

2.       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. Vol. 55. N. 10. p. 1214-1226. doi: 10.1134/S0016675819100060

3.       Gridina M.M., Nikitina T.V., Pristyazhnyuk I.E., Kashevarova A.A., Lopatkina M.E., Vasilyev S.A., Nazarenko L.P., Lebedev I.N., Serov O.L. Generation of the induced pluripotent stem cell line, ICAGi002-A, from unaffected carrier megabase scaled duplication involving the CNTN6 gene. Stem Cell Res. 2019. V. 40. N. 101556. doi: 10.1016/j.scr.2019.101556

4. Shnaider T.A., Pristyazhnyuk I.E., Menzorov A.G., Matveeva N.M., Nikitina T.V., Khabarova A.A., Skryabin N.A., Kashevarova A.A., Lopatkina M.E., Nazarenko L.P., Lebedev I.N., Serov O.L. Generation of four iPSC lines from two siblings with a microdeletion at the CNTN6 gene and intellectual disability. Stem Cell Res. 2019. Vol. 41. N. 101591. doi: 10.1016/j.scr.2019.101591

5. Lopatkina M.E., Lebedev I.N. The role of CNTN6 in the pathogenesis of neurodevelopmental disorders / edited by Maslennikov A.B. Vol. 29. Novosibirsk: Akademizdat. 2019. P. 93-110.

6. Lopatkina M.E., Fishman V.S., Gridina M.M., Skryabin N.A., Nikitina T.V., Kashevarova A.A., Nazarenko L.P., Serov O.L., Lebedev I.N. The search of biological processes affected by CNTN6 microdeletion in neurons, derived from induced pluripotent stem cells of a patient with intellectual disability and 3p26.3 microdeletion. European Journal Of Human Genetics. 2019. Vol. 27. Suppl. P08.13A. p. 216-216. doi: 10.1038/s41431-019-0404-7

7. Skryabin N.A., Lopatkina M.E., Korf M.P., Filippova M.O., Seitova G.N., Nazarenko L.P., Lebedev I.N. Molecular karyotyping in the practice of prenatal diagnosis: experience, problems and prospects. Medical Genetics. 2019. Vol. 18. N. 3 (201). p. 55-61. doi: 10.25557/2073-7998.2019.03.55-61

8. Skryabin N.A., Vasilyev S.A., Nikitina T.V., Zhigalina D.I., Savchenko R.R., Babushkina N.P., Lopatkina M.E., Kashevarova A.A., Lebedev I.N. Runs of homozygosity in spontaneous abortions from families with recurrent pregnancy loss. Вавиловский журнал генетики и селекции. 2019. Vol. 23. N. 2. p. 244-249. doi: 10.18699/VJ19.489

9. Lopatkina M.E., Kashevarova A.A., Skryabin N.A., Shorina A.R., Maslennikov A.B., Nazarenko L.P., Lebedev I.N. Search for molecular pathways and protein partners of CNTN6 in craniogenesis regulation. Medical Genetics. 2016. Vol. 15. N. 5(167). P. 10-14.

10. Lopatkina M.E., Kashevarova A.A., Lebedev I.N. Estimation of association of CNTN6 copy number variation with idiopathic intellectual disability. Russian Journal of Genetics, 2016. Vol. 52. N. 9. p. 1004-1006. doi: 10.7868/S0016675816090095      

11.   Kashevarova A.A., Skryabin N.A., Lopatkina M.E., Salyukova O.A., Filimonova M.N., Lezhnina O.V., Shorina A.R., Maslennikov A.B., Nazarenko L.P., Culic V., Lebedev I.N. The molecular karyotyping of undifferentiated forms of intellectual disabilities: from chromosomal mutations to identification of pathogenic genes. Medical Genetics. 2016. Vol. 15. N. 4 (166). p. 46-49.