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Research Institute of Medical Genetics

2015

1. Rudko A.A., Garaeva A.F., Bragina E.Y., Babushkina N.P., Kolokolova O.V., Lipaenkova O.N., Puzyrev V.P., Freidin M.B. Mutations in genes underlying atypical familial mycobacteriosis are not found in tuberculosis patients from Siberian populations// Tuberculosis (Edinb). - 2015. - V.95(2). – P. 204-207. doi: 10.1016/j.tube.2015.01.002. - URL: https://www.academia.edu/13418002/Mutations_in_genes_underlying_atypical_familial_mycobacteriosis_are_not_found_in_tuberculosis_patients_from_Siberian_populations

 

2. Ogorodova L.M., Fedorova O.S., Sripa.B., Mordvinov V.A., Katokhin A.V., Keiser J., Odermatt P., Brindley P.J., Mayboroda O.A., Velavan T.P., Freidin M.B., Sazonov A.E., Saltykova I.V., Pakharukova M.Y., Kovshirina Y.V., Kaloulis K., Krylova O.Y. TOPICConsortium. Opisthorchiasis: an overlooked danger. // PLoSNegl Trop Dis. – 2015. - 9(4). - doi:10.1371/journal.pntd.0003563. - URL: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383567/

 

3. Polonikov A.V., Ushachev D.V., Ivanov V.P., Churnosov M.I., Freidin M.B., Ataman A.V., Harbuzova V.Y., Bykanova M.A., Bushueva O.Y., Solodilova M.A. Altered erythrocyte membrane protein composition mirrors pleiotropic effects of hypertension susceptibility genes and disease pathogenesis. // J Hypertens. – 2015. – V.33(11). – P.1-13. – doi: 10.1097/HJH.0000000000000699/ - URL: https://pubmed.ncbi.nlm.nih.gov/26335431/

 

4. Denisov E.V., Skryabin N.A., Vasilyev S.A., Gerashchenko T.S., Lebedev I.N., Zavyalova M.V., Cherdyntseva N.V., Perelmuter V.M.  Relationship between morphological and cytogenetic heterogeneity in invasive micropapillary carcinoma of the breast: a report of one case. // Journal of Clinical Pathology. - 2015. – V.68(9).- P. 758-762. - doi: 10.1136/jclinpath-2015-203009. - URL: https://pubmed.ncbi.nlm.nih.gov/26076966/

 

5. Ogorodova L.M, Puzyrev V.P., Bragina E.Y., Freidin M.B. Meta-analysis identifies seven susceptibility loci involved in the atopic march. // Nat Commun. - 2015. – V.6 . - Article number. 8804. - doi: 10.1038/ncomms9804. – URL: https://pubmed.ncbi.nlm.nih.gov/26542096/

 

6. Markova E., Vasilyev S., Belyaev I. 53BP1 foci as a marker of tumor cell rediosensitivity. // Neoplasma. - 2015. - V.62(5). - P. 770-776. - doi: 10.4149/neo_2015_092. – URL: https://pubmed.ncbi.nlm.nih.gov/26278144/

 

7. Marková E., Somsedíková A., Vasilyev S., Pobijaková M., Lacková A., Lukačko P., Belyaev I. DNA repair foci and late apoptosis/necrosis in peripheral blood lymphocytes of breast cancer patients undergoing radiotherapy. // Int J Radiat Biol. - 2015. – V. 91(12)/ - P.934-945. - doi: 10.3109/09553002.2015.1101498. – URL: https://pubmed.ncbi.nlm.nih.gov/26537244/

 

8. Nazarenko M.S., Markov A.V., Lebedev I.N., Freidin M.B., Sleptcov A.A., Koroleva I.A., Frolov A.V., Popov V.A., Barbarash O.L., Puzyrev V.P. A Comparison of Genome-Wide DNA Methylation Patterns between Different Vascular Tissues from Patients with Coronary Heart Disease. // PLoS One. – 2015. - Apr 9. – V.10(4). - e0122601. - doi: 10.1371/journal.pone.0122601. – URL: https://pubmed.ncbi.nlm.nih.gov/25856389/

 

9. Ivanova S.A., Fedorenko O.Y., Freidin M.B., Alifirova V.M., Zhukova N.G., Zhukova I.A., Al Hadithy A.FY., Brouwers JRBJ., Bokhan NA., Wilffert B., Loonen AJM. Dissimilar mechanistic background of peripheral and orofacial hyperkinesia in patients with Parkinson's disease and levodopa-induced dyskinesia. // PHYSIOLOGY AND PHARMACOLOGY. – 2015. - V. 19(4). - P. 216-221. – URL: https://www.researchgate.net/publication/299445782_Dissimilar_mechanistic_background_of_peripheral_and_orofacial_hyperkinesia_in_patients_with_Parkinson's_disease_and_levodopa-induced_dyskinesia_Physiology_and_Pharmacology

 

10. Litviakov N.V., Freidin M.B., Sazonov A.E., Khalyuzova M.V., Buldakov M.A., Karbyshev M.S., Albakh E.N., Isubakova D.S., Gagarin A.A., Nekrasov G.B., Mironova E.B., Izosimov A.S., Takhauov R.M., Karpov A.B. Different patterns of allelic imbalance in sporadic tumors and tumors associated with long-term exposure to gamma-radiation. // MUTATION RESEARCH / GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS. – 2015. - V. 794. - P. 8-16. - doi:10.1016/j.mrgentox.2015.09.003. –URL: https://pubmed.ncbi.nlm.nih.gov/26653978/

 

11. Polonikov A.V., Ushachev D.V., Ivanov V.P., Churnosov M.I., Freidin M.B., Ataman A.V., Harbuzova V.Y., Bykanova M.A., Bushueva O.Y., Solodilova M.A. Altered erythrocyte membrane protein composition mirrors pleiotropic effects of hypertension susceptibility genes and disease pathogenesis // JOURNAL OF HYPERTENSION. - 2015. -V. 33(11). – P. 2265-2277. doi: 10.1097/HJH.0000000000000699. - https://pubmed.ncbi.nlm.nih.gov/26335431/

 

2016  

1. Stepanov V., Vagaitseva K., Kharkov V., Cherednichenko A., Bocharova A., Berezina G., Svyatova G. Forensic and population genetic characteristics of 62 X chromosome SNPs revealed by multiplex PCR and MALDI-TOF mass spectrometry genotyping in 4 North Eurasian populations. // Legal Medicine. - 2016. - V. 18. - P. 66-71. - doi: 10.1016/j.legalmed.2015.12.008. – URL: https://pubmed.ncbi.nlm.nih.gov/26832380/

 

2. Sarnowski C, Sugier P.E., Granell R, Jarvis D., Dizier M.H., Ege M., Imboden M., Laprise C., Khusnutdinova E.K., Freidin M.B., Cookson W.O., Moffatt M., Lathrop M., Siroux V., Ogorodova L.M., Karunas A.S., James A., Probst-Hensch N.M., von Mutius E., Pin I., Kogevinas M., Henderson A.J., Demenais F., Bouzigon E. Identification of a new locus at 16q12 associated with time to asthma onset. // J Allergy Clin Immunol. - 2016. - V. 138(4). - P. 1071-1080. - doi: 10.1016/j.jaci.2016.03.018. – URL: https://pubmed.ncbi.nlm.nih.gov/27130862/

 

3. Schieck M., Schouten JP., Michel S., Suttner K., Toncheva A.A., Gaertner V.D., Illig T., Lipinski S., Franke A., Klintschar M., Kalayci O., Sahiner U.M., Birben E., Melén E., Pershagen G., Freidin M.B., Ogorodova L.M., Granell R., Henderson J., Brunekreef B., Smit H.A., Vogelberg C., von Berg A., Bufe A., Heinzmann A., Laub O., Rietschel E., Simma B., Genuneit J., Jonigk D., Postma D.S., Koppelman G.H., Vonk J.M., Timens W., Boezen H.M., Kabesch M. Doublesex and mab-3 related transcription factor 1 (DMRT1) is a sex-specific genetic determinant of childhood-onset asthma and is expressed in testis and macrophages. // J Allergy Clin Immunol. – 2016. - V. 138(2). - P.421-431. - doi: 10.1016/j.jaci.2015.12.1305. – URL: https://pubmed.ncbi.nlm.nih.gov/26906082/

 

4. Ivanova S.A., Loonen A.J., Bakker P.R., Freidin M.B., Ter Woerds N.J., Al Hadithy A.F., Semke A.V., Fedorenko O.Y., Brouwers J.R., Bokhan N.A., van Os J., van Harten PN., Wilffert B. Likelihood of mechanistic roles for dopaminergic, serotonergic and glutamatergic receptors in tardive dyskinesia: A comparison of genetic variants in two independent patient populations. // SAGE Open Med. – 2016. – V.4. - Article number. UNSP 2050312116643673. - doi: 10.1177/2050312116643673. URL: https://pubmed.ncbi.nlm.nih.gov/27127627/

 

5. Lebedev I.N., Nazarenko L.P., Skryabin N.A., Kashevarova A.A. A de novo microtriplication 4q21.21-q21.22 in a patient with macrocephaly, long extremities, developmental delay, anxiety and absence of speech // American Journal of Medical Genetics. Part A. - 2016. - V. 170(8). - P. 2089-2096. – doi: 10.1002/ajmg.a.37754. – URL: https://pubmed.ncbi.nlm.nih.gov/27288323/

 

6. 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. Yu., Lebedev I.N. Comparative cytogenetic analysis of spontaneous abortions in recurrent and sporadic pregnancy losses. // Biomedicine Hub. - 2016. - Vol. 1(1). – P. 1-11. doi: 10.1159/000446099. – URL: https://pubmed.ncbi.nlm.nih.gov/31988885/

 

7. Rudko A.A., Bragina E.Yu., Puzyrev V.P., Freidin M.B. The genetics of susceptibility to tuberculosis: progress and challenges. // Asian Pacific Journal of Tropical Disease. – 2016. - V. 6 (9). - P. 680-684. – doi: 10.1016/S2222-1808(16)61109-X. – URL: https://www.sciencedirect.com/science/article/abs/pii/S222218081661109X

 

8. Pankratov V, Litvinov S, Kassian A, Shulhin D, Tchebotarev L, Yunusbayev B, Möls M, Sahakyan H, Yepiskoposyan L, Rootsi S, Metspalu E, Golubenko M, Ekomasova N, Akhatova F, Khusnutdinova E, Heyer E, Endicott P, Derenko M, Malyarchuk B, Metspalu M, Davydenko O, Villems R, Kushniarevich A. East Eurasian ancestry in the middle of Europe: genetic footprints of Steppe nomads in the genomes of Belarusian Lipka Tatars. // SCIENTIFIC REPORTS. – 2016. - V. 6. - Article number.  3019730197. - doi: 10.1038/srep30197. –URL: https://pubmed.ncbi.nlm.nih.gov/27453128/

 

9. Bragina E.Yu., Tiys E.S., Rudko A.A., Ivanisenko V.A., Freidin M.B. Novel tuberculosis susceptibility candidate genes revealed by the reconstruction and analysis of associative networks. // Infect Genet Evol. – 2016. - V. 46. - P. 118-123. - doi: 10.1016/j.meegid.2016.10.030. – URL: https://pubmed.ncbi.nlm.nih.gov/27810501/

 

2017

 1. Garaeva A.F., Babushkina N.P., Rudko A.A., Goncharova I.A., Bragina E.Yu., Freidin M.B.Differential genetic background of primary and secondary tuberculosis in Russians // Meta Gene. - 2017. - № 1. - P. 178–180. Available online 25 October 2016. - doi: 10.1016/j.mgene.2016.10.008. - URL: https://www.sciencedirect.com/science/article/pii/S2214540016300664

2. Vonk JM, Scholtens S, Postma DS, Moffatt MF, Jarvis D, Ramasamy A, Wjst M, Omenaas ER, Bouzigon E, Demenais F, Nadif R, Siroux V, Polonikov AV, Solodilova M, Ivanov VP, Curjuric I, Imboden M, Kumar A, Probst-Hensch N, Ogorodova LM, Puzyrev VP, Bragina EY, Freidin MB, Nolte IM, Farrall AM, Cookson WO, Strachan DP, Koppelman GH, Boezen HM. Adult onset asthma and interaction between genes and active tobacco smoking: The GABRIEL consortium // PLoS One. – 2017. – V. 12(3). - Article number. e0172716. - doi: 10.1371/journal.pone.0172716. – URL: https://pubmed.ncbi.nlm.nih.gov/28253294/

 

3. Maria S. Nazarenko, Aleksei A. Sleptcov, Igor N. Lebedev, Nikolay A. Skryabin, Anton V. Markov, Maria V. Golubenko, Iuliia A. Koroleva, Anton N. Kazancev, Olga L. Barbarash & Valery P. Puzyrev. Genomic structural variations for cardiovascular and metabolic comorbidity // Scientific Reports. – 2017. - Jan 25. – V.7. - Article number. 41268. - doi: 10.1038/srep41268. –URL: https://pubmed.ncbi.nlm.nih.gov/28120895/

 

4. Denisov E.V., Skryabin N.A., Gerashchenko T.S., Tashireva L.A., Wilhelm J., Buldakov M.A., Sleptcov A.A., Lebedev I.N., Vtorushin S.V., Zavyalova M.V., Cherdyntseva N.V., Perelmuter V.M. Clinically relevant morphological structures in breast cancer represent transcriptionally distinct tumor cell populations with varied degrees of epithelial-mesenchymal transition and CD44+CD24- stemness // Oncotarget, Advance Publications. - 2017. – 8(37):61163-61180. - doi: 10.18632/oncotarget.18022. – URL: https://pubmed.ncbi.nlm.nih.gov/28977854/

 

5. Alexey V. Polonikov; Olga Yu. Bushueva; Irina V. Bulgakova; Maxim B. Freidin; Mikhail I. Churnosov; Maria A. Solodilova; Yaroslav D. Shvetsov; Vladimir P. Ivanov. A comprehensive contribution of genes for aryl hydrocarbon receptor signaling pathway to hypertension susceptibility // Pharmacogenet Genomics. – 2017. – V. 27(2). – P. 57-69. - doi: 10.1097/FPC.0000000000000261. – URL: https://pubmed.ncbi.nlm.nih.gov/27977510/

 

6. Ivanova S.A., Osmanova D.Z., Freidin M.B., Fedorenko O.Y., Boiko A.S., Pozhidaev I.V., Semke A.V., Bokhan N.A., Agarkov A.A., Wilffert B., Loonen A.J. Identification of 5-hydroxytryptamine receptor gene polymorphisms modulating hyperprolactinaemia in antipsychotic drug-treated patients with schizophrenia. // World J Biol Psychiatry. - 2017. – V.18(3). - P. 239-246. - doi: 10.1080/15622975.2016.1224926. – URL: https://pubmed.ncbi.nlm.nih.gov/27654063/

 

7. Ivanova S.A., Osmanova D.Z., Boiko A.S., Pozhidaev I.V., Freidin M.B., Fedorenko O.Y., Semke A.V., Bokhan N.A., Kornetova E.G., Rakhmazova L.D., Wilffert B., Loonen A.J. Prolactin gene polymorphism (-1149 G/T) is associated with hyperprolactinemia in patients with schizophrenia treated with antipsychotics // Schizophr Res. – 2017. – V.182. – P.110-114. - doi: 10.1016/j.schres.2016.10.029. –URL: https://pubmed.ncbi.nlm.nih.gov/27776952/

 

8. Smolnikova M.V., Freidin M.B., Tereshchenko S.Y. The prevalence of the variants of the L-ficolin gene (FCN2) in the arctic populations of East Siberia // Immunogenetics. – 2017. – V.69(6). – P. 409-413. - doi: 10.1007/s00251-017-0984-8. – URL: https://pubmed.ncbi.nlm.nih.gov/28391359/

 

9. Matvey M. Tsyganov, Maxim B. Freidin, Marina K. Ibragimova, Irina V. Deryusheva, Polina V. Kazantseva, Elena M. Slonimskaya, Nadezhda V. Cherdyntseva, Nikolai V. Litviakov. Genetic variability in the regulation of the expression cluster of MDR genes in patients with breast cancer // Cancer Chemotherapy and Pharmacology. - 2017. – V.80(2). –P. 251-260. - doi: 10.1007/s00280-017-3354-1. – URL: https://pubmed.ncbi.nlm.nih.gov/28601971/

 

10. Larruga JM, Marrero P, Abu-Amero KK, Golubenko MV, Cabrera VM. Carriers of mitochondrial DNA macrohaplogroup R colonized Eurasia and Australasia from a southeast Asia core area. // BMC Evol Biol. – 2017. – V.17(1). – P.115. - doi: 10.1186/s12862-017-0964-5. – URL: https://pubmed.ncbi.nlm.nih.gov/28535779/

 

11. Polonikov A, Bykanova M, Ponomarenko I, Sirotina S, Bocharova A, Vagaytseva K, Stepanov V, Churnosov M, Bushueva O, Solodilova M, Shvetsov Y, Ivanov V. The contribution of CYP2C gene subfamily involved in epoxygenase pathway of arachidonic acids metabolism to hypertension susceptibility in Russian population // CLINICAL AND EXPERIMENTAL HYPERTENSION – 2017. – V. 39(4). –P. 306-311. -  doi: 10.1080/10641963.2016.1246562. – URL: https://pubmed.ncbi.nlm.nih.gov/28513222/

 

12. Sahakyan H, Hooshiar Kashani B, Tamang R, Kushniarevich A, Francis A, Costa MD, Pathak AK, Khachatryan Z, Sharma I, van Oven M, Parik J, Hovhannisyan H, Metspalu E, Pennarun E, Karmin M, Tamm E, Tambets K, Bahmanimehr A, Reisberg T, Reidla M, Achilli A, Olivieri A, Gandini F, Perego UA, Al-Zahery N, Houshmand M, Sanati MH, Soares P, Rai E, Šarac J, Šarić T, Sharma V, Pereira L, Fernandes V, Černý V, Farjadian S, Singh DP, Azakli H, Üstek D, Ekomasova Trofimova N, Kutuev I, Litvinov S, Bermisheva M, Khusnutdinova EK, Rai N, Singh M, Singh VK, Reddy AG, Tolk HV, Cvjetan S, Lauc LB, Rudan P, Michalodimitrakis EN, Anagnou NP, Pappa KI, Golubenko MV, Orekhov V, Borinskaya SA, Kaldma K, Schauer MA, Simionescu M, Gusar V, Grechanina E, Govindaraj P, Voevoda M, Damba L, Sharma S, Singh L, Semino O, Behar DM, Yepiskoposyan L, Richards MB, Metspalu M, Kivisild T, Thangaraj K, Endicott P, Chaubey G, Torroni A, Villems R. Origin and spread of human mitochondrial DNA haplogroup U7. // SCIENTIFIC REPORTS. -  2017. – V. 7. - Article number. 4604. - doi: 10.1038/srep46044. –URL https://pubmed.ncbi.nlm.nih.gov/28387361/

 

13. Polonikov A., Kharchenko A., Bykanova M., Sirotina S., Ponomarenko I., Bocharova A., Vagaytseva K., Stepanov V., Bushueva O., Churnosov M., Solodilova M. Polymorphisms of CYP2C8, CYP2C9 and CYP2C19 and risk of coronary heart disease in Russian population // Gene. 2017. V.627. N.5. P.451-459. - doi: 10.1016/j.gene.2017.07.004. – URL: https://pubmed.ncbi.nlm.nih.gov/28687336/

 

14. Korablev A.N., Serova I.A., Serov O.L. Generation of megabase-scale deletions, inversions and duplications involving the Contactin-6 gene in mice by CRISPR/Cas9 technology // BMC Genetics. - 2017. - 18(Suppl 1):112. - doi: 10.1186/s12863-017-0582-7. – URL:https://pubmed.ncbi.nlm.nih.gov/29297312/

 

15. Stepanov V., Marusin A., Vagaitseva K., Bocharova A., Makeeva O. Genetic Variants in CSMD1 Gene Are Associated with Cognitive Performance in Normal Elderly Population
// Genetics Research International. – 2017. - Article number. 6293826. -
doi: 10.1155/2017/6293826. – URL: https://pubmed.ncbi.nlm.nih.gov/29379655/

  

16. Triska P., Chekanov, N., Stepanov V., Khusnutdinova E.K., Kumar G.P.A., Akhmetova V., Babalyan K., Boulygina E., Kharkov V., Gubina M., Khidiyatova I., Khitrinskaya I., Khrameeva E.E., Khusainova R., Konovalova N., Litvinov S., Marusin A., Mazur A.M., Puzyrev V., Ivanoshchuk D., Spiridonova M., Teslyuk A., Tsygankova S., Triska M., Trofimova N., Vajda E., Balanovsky O., Baranova A., Skryabin K., Tatarinova T.V., Prokhortchouk E. Between Lake Baikal and the Baltic Sea: genomic history of the gateway to Europe // BMC Genetics. 2017. - 18(Suppl 1). – P.110. - doi: 10.1186/s12863-017-0578-3. -https://pubmed.ncbi.nlm.nih.gov/29297395/

 

17. Fedorenko O.Y., Loonen A.J.M., Vyalova N.M., Boiko A.S., Pozhidaev I.V., Osmanova D.Z., Rakhmazova L.D., Bokhan N.A., Ivanov M.V., Freidin M.B.  и др. Hyperprolactinemia and CYP2D6, DRD2 and HTR2C genes polymorphism in patients with schizophrenia. // PHYSIOLOGY AND PHARMACOLOGY. -2017. –V .21(1). - P. 25-33. – URL: https://www.researchgate.net/publication/317163391_Hyperprolactinemia_and_CYP2D6_DRD2_and_HTR2C_genes_polymorphism_in_patients_with_schizophrenia

 

2018

1. Maria M. Gridina, Natalia M. Matveeva, Veniamin S. Fishman, Aleksei G. Menzorov, Helen A. Kizilova, Nikolay A. Beregovoy, Igor I. Kovrigin, Inna E. Pristyazhnyuk, Igor P. Oscorbin, Maxim L. Filipenko, Anna A. Kashevarova, Nikolay A. Skryabin, Tatyana V. Nikitina, Elena A. Sazhenova, Ludmila P. Nazarenko, Igor N. Lebedev, Oleg L. Serov. 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 Aug;55(8):6533-6546. -  doi: 10.1007/s12035-017-0851-5. –URL: https://pubmed.ncbi.nlm.nih.gov/29327201/

 

2. Florence Demenais, Patricia Margaritte-Jeannin, Kathleen C. Barnes, William O. C. Cookson, .... Maxim B. Freidin,  Valery P. Puzyrev, .... James J. Yang, Jing Hua Zhao, Miriam F.  Moffatt, Carole Ober & Dan L. Nicolae Show fewer authors. Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks. // Nature Genetics. - 2018 Jan;50(1):42-53. - doi: 10.1038/s41588-017-0014-7. – URL: https://pubmed.ncbi.nlm.nih.gov/29273806/

 

3. Sirotina S., Ponomarenko I., Kharchenko A., Bykanova M., Bocharova A., Vagaytseva K., Stepanov V.A., Churnosov M., Solodilova M., Polonikov A. A novel polymorphism in the promoter of the CYP4A11 gene is associated with susceptibility to coronary artery disease. // Disease Markers. - 2018 Feb 1;2018:5812802. - doi: 10.1155/2018/5812802. – URL: https://pubmed.ncbi.nlm.nih.gov/29484037/

 

4. Stepanov V.A., Vagaytseva K., Bocharova A., Marusin A., Markova V., Minaycheva L., Makeeva O.  Analysis of Association of Genetic Markers in the LUZP2 and FBXO40 Genes with the Normal Variability in Cognitive Performance in the Elderly // International Journal of Alzheimer’s Disease. - 2018 Apr 19;V.2018:2686045. - doi: 10.1155/2018/2686045. – URL: https://pubmed.ncbi.nlm.nih.gov/29850221/

 

5. Spirina L.V., Kondakova I.V., Tarasenko N.V., Slonimskaya E.M., Usynin E.A., Gorbunov A.K., Yurmazov Z.A., Chigevskaya S.Yu. Targeting of the AKT/m-TOR Pathway: Biomarkers of Resistance to Cancer Therapy - AKT/m-TOR Pathway and Resistance to Cancer Therapy // Chinese journal of lung cancer - 2018 Jan 20;21(1):63-66. - doi: 10.3779/j.issn.1009-3419.2018.01.09. – URL: https://pubmed.ncbi.nlm.nih.gov/29357975/

 

6. Saik O.V., Demenkov P.S., Ivanisenko T.V., Bragina E.Y., Freidin M.B., Goncharova I.A., Dosenko V.E., Zolotareva O.I., Hofestaedt R., Lavrik I.N., Rogaev E.I., Ivanisenko V.A..Novel candidate genes important for asthma and hypertension comorbidity revealed from associative gene networks // BMC Medical Genomics. - 2018 Feb 13;11(Suppl 1):15. - doi: 10.1186/s12920-018-0331-4. – URL: https://pubmed.ncbi.nlm.nih.gov/29504915/

 

7. Bocharova A.V., Vagaitseva K.V., Makeeva O.A. , Marusin A.V., Stepanov V.A. Frequencies of alleles, genotypes and haplotypes of two polymorphisms in the clusterin gene in  the Russian elderly population categorized by cognitive performance  // Data in Brief. 2018. V.16, P. 775-779. - doi: 10.1016/j.dib.2017.12.019. – URL: https://pubmed.ncbi.nlm.nih.gov/29276745/

 

8. Pristyazhnyuk I.E., Menzorov A.G. Ring chromosome: from formation to clinical potential // Protoplasma. - 2018 Mar;255(2):439-449. - doi: 10.1007/s00709-017-1165-1. – URL: https://pubmed.ncbi.nlm.nih.gov/28894962/

9. Kashevarova A.A., Belyaeva E.O., Nikonov A.M., Plotnikova O.V., Skryabin N.A., Nikitina T.V., Vasilyev S.A., Yakovleva Y.S.,Babushkina N.P. , Tolmacheva E.N., Lopatkina M.E., Savchenko R.R., Nazarenko L.P., Lebedev I.N. Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22 // Molecular Cytogenetics. - 2018 Apr 27;11:26. - doi: 10.1186/s13039-018-0375-3. – URL: https://pubmed.ncbi.nlm.nih.gov/29736186/

 

10.Tšuiko O., Zhigalina D.I., Jatsenko T., Skryabin N.A., Kanbekova O.R., Artyukhova V.G., Svetlakov A.V., Teearu K., Trošin A, Salumets А., Kurg A., Lebedev I.N. The karyotype of the blastocoel fluid demonstrates low concordance with both trophectoderm and inner cell mass // Fertility and Sterility. - 2018 Jun;109(6):1127-1134.e1. -  doi: 10.1016/j.fertnstert.2018.02.008. – URL: https://pubmed.ncbi.nlm.nih.gov/29935648/

 

11. Kashevarova A.A., Nazarenko L.P., Skryabin N.A., Nikitina T.V., Vasilyev S.A., Tolmacheva E.N., Lopatkina M.E., Salyukova O.A., Chechetkina N.N., Vorotelyak E.A., Kalabusheva E.P., Fishman V.S., Kzhyshkowska J., Graziano C., Magini P., Romeo G., Lebedev I.N. A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability // American journal of medical genetics. Part A. - 2018 Nov;176(11):2395-2403. - doi: 10.1002/ajmg.a.40478. – URL: https://pubmed.ncbi.nlm.nih.gov/30244536/

 

12. Nikitina T.V., Menzorov A.G., Kashevarova A.A., Gridina M.M., Khabarova A.A., Yakovleva Yu.S., Lopatkina M.E., Kizilova E.A., Vasilyev S.A., Serov O.L., Lebedev I.N. Generation of two iPSC lines (IMGTi001-A and IMGTi001-B) from human skin fibroblasts with ring chromosome 22 // Stem Cell Research. - 2018 Aug;31:244-248. - doi: 10.1016/j.scr.2018.08.012. – URL: https://pubmed.ncbi.nlm.nih.gov/30144655/

 

13. Skalny A.V., Tinkov A.A., Voronina I., Terekhina O., Skalnaya M.G., Bohan T.G., Agarkova L.A., Kovas Y.  The impact of lifestyle factors on agerelated differences in hair trace element content in pregnant women in the third trimester // Acta scientiarum polonorum. Technologia alimentaria. - 2018;17(1):83-89. - doi: 10.17306/J.AFS.0539. - https://pubmed.ncbi.nlm.nih.gov/29514427/

 

14. Nikitina T.V., Menzorov, Kashevarova A.A., Gridina M.M., Khabarova A.A., Yakovleva S.Yu, Lopatkina M.E., Pristyazhnyuk I.E., Vasilyev, Serov, O.L., Lebedev I.N. Induced pluripotent stem cell line, IMGTi003-A, derived from skin fibroblasts of an intellectually disabled patient with ring chromosome 13 // Stem Cell Research. - 2018 Dec;33:260-264. - doi: 10.1016/j.scr.2018.11.009. – URL: https://pubmed.ncbi.nlm.nih.gov/30500678/

 

15. Bragina E.Yu., Goncharova I.A., Garaeva A.F., Nemerov E.V., Babovskaya A.A., Karpov A.B., Semenova Y.V., Zhalsanova I.Z., Gomboeva D.E., Saik O.V., Zolotareva O.I., Ivanisenko V.A., Dosenko V. E., Hofestaedt R., Freidin M.B. Molecular relationships between bronchial asthma and hypertension as comorbid diseases // Journal of integrative bioinformatics. - 2018 Dec 10;15(4 SI):20180052. - doi: 10.1515/jib-2018-0052. – URL: https://pubmed.ncbi.nlm.nih.gov/30530896/

 

16. Shoshi A., Hofestädt R., Zolotareva O., Maier A., Friedrichs M., Ivanisenko V.A., Dosenko V.E., Bragina E.Yu. GenCoNet – a graph database for the analysis of comorbidities by gene networks // Journal of integrative bioinformatics. - 2018 Dec 25;15(4 SL):20180049. - doi: 10.1515/jib-2018-0049. - https://pubmed.ncbi.nlm.nih.gov/30864352/

 

17. Drevytska T., Morhachov R., Tumanovska L., Portnichenko G., Nagibin V., Boldyriev O., Lapikova-Bryhinska T., Gurianova V., Dons'koi B., Ivanisenko V., Bragina E., Hofestaedt R., Dosenko V. shRNA-induced knockdown of a bioinformatically predicted target IL10 influences functional parameters in spontaneously hypertensive rats with asthma // Journal of integrative bioinformatics. 2018 Dec 10;15(4 SL ):20180053. -

 doi: 10.1515/jib-2018-0053. –URL: https://pubmed.ncbi.nlm.nih.gov/30530891/

 

18. Saik O.V., Demenkov P.S., Ivanisenko T.V., Bragina E.Yu., Freidin M.B., Dosenko V.E., Zolotareva O.I., Choynzonov E.L., Hofestaedt R., Ivanisenko V.A. Search for new candidate genes involved in the comorbidity of asthma and hypertension based on automatic analysis of scientific literature // Journal of integrative bioinformatics. - 2018 Dec 25;15(4 SL ):20180054. - doi: 10.1515/jib-2018-0054. – URL: https://pubmed.ncbi.nlm.nih.gov/30864351/

 

19. Polonikov A.V., Ponomarenko I.V., Bykanova M.A., Sirotina S.S., Bocharova A.V., Vagaytseva K.V., Stepanov V.A., Azarova I.E., Churnosov M.I., Solodilova M.A. A comprehensive study revealed SNP–SNP interactions and a sex-dependent relationship between polymorphisms of the CYP2J2 gene and hypertension risk // The Japanese Society of Hypertension. - 2019 Feb;42(2):257-272. - doi: 10.1038/s41440-018-0142-1.

 

2019

1. GenomeAsia100K Consortium: Jeffrey D. Wall; Eric Stawiski; Aakrosh Ratan; Hie Lim Kim; Changhoon Kim; Ravi Gupta; Kushal Suryamohan; Elena S. Gusareva; Rikky Wenang Purbojati; Tushar Bhangale; Vadim Stepanov; Vladimir Kharkov; Markus S. Schrӧder et al. The GenomeAsia 100K Project Enables genetic discoveries across Asia // Nature. 2019 Dec;576(7785):106-111. - doi: 10.1038/s41586-019-1793-z. – URL: https://pubmed.ncbi.nlm.nih.gov/31802016/

 

2. Jeffrey D. Wall; Eric Stawiski; Aakrosh Ratan; Hie Lim Kim; Changhoon Kim; Ravi Gupta; Kushal Suryamohan; Elena S. Gusareva; Rikky Wenang Purbojati; Tushar Bhangale; Vadim Stepanov; Vladimir Kharkov; Markus S.Schrӧder et al. Identification of African-Specific Admixture between Modern and Archaic Humans // The American Journal of Human Genetics. - 2019 Dec 5;105(6):1254-1261. doi: 10.1016/j.ajhg.2019.11.005. - https://pubmed.ncbi.nlm.nih.gov/31809748/

 

3. I. Pristyazhnyuk, J. Minina, A. Korablev, .I. Serova, V. fishman, Maria Gridina 1,4 , T.S. Rozhdestvensky, Leonid Gubar, B.V. Skryabin, O. L. Serov. Time origin and structural analysis of the induced CRISPR/cas9 megabase-sized deletions and duplications involving the Cntn6 gene in mice // Scientific reports. - 2019 Oct 2;9(1):14161. doi: 10.1038/s41598-019-50649-4. – URL: https://pubmed.ncbi.nlm.nih.gov/31578377/

 

4. Zolotareva O., Saik O.V., Königs C., Bragina E.Y., Goncharova I.A., Freidin M.B., Dosenko V.E., Ivanisenko V.A., Hofestädt R. Comorbidity of asthma and hypertension may be mediated by shared genetic dysregulation and drug side effects // Scientific reports. -  2019 Nov 8;9(1):16302. doi: 10.1038/s41598-019-52762-w. – URL: https://pubmed.ncbi.nlm.nih.gov/31705029/

 

5. Gridina M.M., Nikitina T.V., Pristyazhnyuk I.E., Kashevarova A.A., Lopatkina M.E., Vasilyev S.A., Nazarenko L.P., 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 Research. 2019. Aug 28; 40: 101556. - doi: 10.1016/j.scr.2019.101556. – URL: https://pubmed.ncbi.nlm.nih.gov/31518906/

 

6. Schnaider T.A., Pristyazhnyuk I.E., Menzorov A.G., Matveeva N.M., 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 Research. - 2019 Dec;41:101591. - doi: 10.1016/j.scr.2019.101591. – URL: https://pubmed.ncbi.nlm.nih.gov/31678775/

 

7. Khabarova A.A., Pristyazhnyuk I.E. , Nikitina T.V. , Gayner T.A. , Torkhova N.B., Skryabin N.A., Kashevarova A.A., Babushkina N.P., Markova Zh.G., Minzhenkova M.E., Nazarenko L.P., Shilova N.V., Shorina A.R., Lebedev I.N., Serov O.L. Induced pluripotent stem cell line, ICAGi001-A, derived from human skin fibroblasts of a patient with 2p25.3 deletion and 2p25.3-p23.3 inverted duplication // Stem Cell Research. - 2019 Jan;34:101377. - doi: 10.1016/j.scr.2018.101377. – URL: https://pubmed.ncbi.nlm.nih.gov/30616144/

 

8. Polonikov A.V.,  Ponomarenko I.V.,  Bykanova M.A.,  Sirotina S.S.,  Bocharova A.V.,  Vagaytseva K.V.,  Stepanov V.A.,  Azarova I.E.,  Churnosov M.I.,  Solodilova M.A. A comprehensive study revealed SNP–SNP interactions and a sex-dependent relationship between polymorphisms of the CYP2J2 gene and hypertension risk // Hypertension Research. - 2019 Feb;42(2):257-272. doi: 10.1038/s41440-018-0142-1. - URL: https://pubmed.ncbi.nlm.nih.gov/30518987/               .

 

9. Trifonova E.A,  Swarovskaya M.G.,  Ganzha O.A.,  Voronkova O.V.,  Gabidulina T.V.,  Stepanov V.A.The interaction effect of angiogenesis and endothelial dysfunction-related gene variants increases the susceptibility of recurrent pregnancy loss // Journal of Assisted Reproduction and Genetics. - 2019 Apr;36(4):717-726. doi: 10.1007/s10815-019-01403-2. - https://pubmed.ncbi.nlm.nih.gov/30680517/

 

10.  Pachganov S, Murtazalieva K, Zarubin A, Sokolov D, Chartier DR, Tatarinova TV. TransPrise: a novel machine learning approach for eukaryotic promoter prediction // PEERJ. - 2019 Nov 1;7:e7990.- doi: 10.7717/peerj.7990. – URL: https://pubmed.ncbi.nlm.nih.gov/31695967/

  

12. Čulić V., Lasan-Trcić R., Liehr T., Lebedev I.N., Pivić M., Pavelic J., Vulić R. A Familial Small Supernumerary Marker Chromosome 15 Associated with Cryptic Mosaicism with Two Different Additional Marker Chromosomes Derived de novo from Chromosome 9: Detailed Case Study and Implications for Recurrent Pregnancy Loss // Cytogenet Genome Research. - 2018;156(4):179-184. -  doi: 10.1159/000494822. – URL: https://pubmed.ncbi.nlm.nih.gov/30466092/

 

13. M.V. Smolnikova, M.B. Freidin, A.A. Barilo,S.V. Smirnova. Analysis of association between cytokine gene polymorphisms and psoriatic disease in Russians of East Siberia // Meta Gene. - 2019 Feb;19: 60-64. - doi: 10.1016/j.mgene.2018.10.010. – URL: https://www.sciencedirect.com/science/article/pii/S2214540018301993

 

14. Bragina E.Yu., Babushkina N.P., Garaeva A.F., Rudko A.A., Tsitrikov D.Yu, Gomboeva D.E., Freidin D.E. Impact of the Polymorphism of the PACRG and CD80 Genes on the Development of the Different Stages of Tuberculosis Infection //  Iranian Journal of Basic Medical Sciences. - 2019 May; 44(3):236-244. – doi: 10.30476/IJMS.2019.44979. – URL: https://pubmed.ncbi.nlm.nih.gov/31182890/

 

15. Fedorenko O.Y.,  Golimbet V.E.,  Ivanova S.А.,  Levchenko А.,  Gainetdinov R.R., Lebedev I.N., Stepanov V.A., Kibitov А.О. и др. Opening up new horizons for psychiatric genetics in the Russian Federation: moving toward a national consortium // Molecular Psychiatry.  2019 Aug;24(8):1099-1111. -  doi: 10.1038/s41380-019-0354-z. – URL: https://pubmed.ncbi.nlm.nih.gov/30664668/

 

16. Osmanova DZ, Freidin MB, Fedorenko OY, Pozhidaev IV, Boiko AS, Vyalova NM, Tiguntsev VV, Kornetova EG, Loonen AJM, Semke AV, Wilffert B, Bokhan NA, Ivanova SA. A pharmacogenetic study of patients with schizophrenia from West Siberia gets insight into dopaminergic mechanisms of antipsychotic-induced hyperprolactinemia // BMC Med Genet. - 2019 Apr 9;20(Suppl 1):47. -  doi: 10.1186/s12881-019-0773-3. – URL: https://pubmed.ncbi.nlm.nih.gov/30967134/

 

17. Spirina LV, Yunusova NV, Kondakova IV, Tarasenko NV. Transcription factors Brn-3α and TRIM16 in cancers, association with hormone reception // Heliyon. - 2019.e02090   2019 Aug 16;5(8):e02090. - doi: 10.1016/j.heliyon.2019.e02090. –URL: https://pubmed.ncbi.nlm.nih.gov/31463379/

 

18. Boiko A.S.,  Ivanova S.A.,  Pozhidaev I.V.,  Freidin M.B.,  Osmanova D.Z.,  Fedorenko O.Y.,  Semke A.V.,  Bokhan N.A.,  Wilffert B.,  Loonen A.J.M. Pharmacogenetics of tardive dyskinesia in schizophrenia: The role of CHRM1 and CHRM2 muscarinic receptors // World Journal of Biological Psychiatry. - 2020 Jan;21(1):72-77. - doi: 10.1080/15622975.2018.1548780. – URL: https://pubmed.ncbi.nlm.nih.gov/30623717/

 

2020

1.     Denisov E.V., Schegoleva A.A., Gerashchenko T.S., Skryabin N.A., Sleptcov A.A., Yakushina V.D., Lyapunova L.S., Tuzikov S.A., Pankova O.V., Perelmuter V.M. Gene Expression Profiling Revealed 2 Types of Bronchial Basal Cell Hyperplasia and Squamous Metaplasia With Different Progression Potentials // Appl Immunohistochem Mol Morphol. - 2020 Jul;28(6):477-483. - doi: 10.1097/PAI.0000000000000762. - URL: https://pubmed.ncbi.nlm.nih.gov/30896548/

 

2.     Zhernakova DV, Brukhin V, Malov S, Oleksyk TK, Koepfli KP, Zhuk A, Dobrynin P, Kliver S, Cherkasov N, Tamazian G, Rotkevich M, Krasheninnikova K, Evsyukov I, Sidorov S, Gorbunova A, Chernyaeva E, Shevchenko A, Kolchanova S, Komissarov A, Simonov S, Antonik A, Logachev A, Polev DE, Pavlova OA, Glotov AS, Ulantsev V, Noskova E, Davydova TK, Sivtseva TM, Limborska S, Balanovsky O, Osakovsky V, Novozhilov A, Puzyrev V, O'Brien SJ. Genome-wide sequence analyses of ethnic populations across Russia  // Genomics. - 2020 Jan;112(1):442-458. - doi: 10.1016/j.ygeno.2019.03.007. – URL: https://pubmed.ncbi.nlm.nih.gov/30902755/

 

3.     Ponomarenko M, Rasskazov D, Chadaeva I, Sharypova E, Drachkova I, OshchepkovD, Ponomarenko P, Savinkova L, Oshchepkova E, Nazarenko M, Kolchanov N. Candidate SNP Markers of Atherogenesis Significantly Shifting the Affinity of TATA-Binding Protein for Human Gene Promoters show stabilizing Natural Selection as a Sum of Neutral Drift Accelerating Atherogenesis and Directional Natural Selection Slowing It // International journal of molecular sciences. - 2020 Feb 5;21(3):1045. - doi: 10.3390/ijms21031045. – URL: https://pubmed.ncbi.nlm.nih.gov/32033288/

 

4.     Nikitina, TV; Sazhenova, EA ; Zhigalina, DI ; Tolmacheva, EN  ; Sukhanova, NN; Lebedev, IN. Karyotype evaluation of repeated abortions in primary and secondary recurrent pregnancy loss // Journal of assisted reproduction and genetics. 2020 Mar; 37 (3):517-525. - doi: 10.1007/s10815-020-01703-y. – URL: https://pubmed.ncbi.nlm.nih.gov/32009222/