Functional Genomics Group

‹‹ 2019 ››

  • Milovidova TB, Schagina OA, Freire MV, Demina NA, Filatova AY, Skoblov MY, Stepanova AA, Chuhrova AL, Polyakov AV. X-linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation. Journal of the European Academy of Dermatology and Venereology. 2019 Jul 15. doi: 10.1111/jdv.15798.
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  • Bychkov IO, Kamenets EA, Filatova AY, Skoblov MY, Mikhaylova SV, Strokova TV, Gundobina OS, Zakharova EY. The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency. Mol Genet Metab. 2019 Jun 15. pii: S1096-7192(19)30196-9. doi: 10.1016/j.ymgme.2019.06.005.
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  • Daria O. Konina, Alexandra Yu. Filatova, Mikhail Yu. Skoblov. LINC01420 RNA structure and influence on cell physiology. BMC Genomics. 2019, 20(Suppl 3):298. https://doi.org/10.1186/s12864-019-5538-z.
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  • Marakhonov AV, Brodehl A, Myasnikov RP, Sparber PA, Kiseleva AV, Kulikova OV, Meshkov AN, Zharikova AA, Koretsky SN, Kharlap MS, Stanasiuk C, Mershina EA, Sinitsyn VE, Shevchenko AO, Mozheyko NP, Drapkina OM, Boytsov SA, Milting H, Skoblov MY. Non-compaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect. Hum Mutat. 2019 Mar 25. doi: 10.1002/humu.23747.
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  • Surikova Y, Filatova A, Polyak M, Skoblov M, Zaklyazminskaya E. Common pathogenic mechanism in patients with dropped head syndrome caused by different mutations in the MYH7 gene. Gene. 697 (2019), p.159–164. doi: 10.1016/j.gene.2019.02.011.
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  • Zernov N, Skoblov M. Genotype-phenotype correlations in FSHD. BMC Medical Genomics. 2019 Mar 13;12(Suppl 2):43. doi: 10.1186/s12920-019-0488-5.
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  • Sparber P, Filatova A, Khantemirova M, Skoblov M. The role of long non-coding RNAs in the pathogenesis of hereditary diseases. BMC Medical Genomics. 2019 Mar 13;12(Suppl 2):42. doi: 10.1186/s12920-019-0487-6.
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    • ‹‹ 2018 ››

    • Alexandra Filatova, Valeria Freire, Ekaterina Lozier, Fedor Konovalov, Ludmila Bessonova, Elena Iudina, Valentina Gnetetskaya, Ilya Kanivets, Sergey Korostelev, Mikhail Skoblov. Novel KIAA1109 variants affecting splicing in a russian family with Alkuraya-Kučinskas syndrome. Clinical genetics. 2018 Nov 28. doi:10.1111/cge.13472.
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    • Peter Sparber, Andrey Marakhonov, Alexandra Filatova, Inna Sharkova, Mikhail Skoblov. Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing. Neurogenetics. 2018 Dec;19(4):257-260. doi: 10.1007/s10048-018-0558-4.
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    • Alexandra Filatova, Tatyana Vasilyeva, Andrey Marakhonov, Anna Voskresenskaya, Rena Zinchenko, and Mikhail Skoblov. Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay. European Journal of Human Genetics. 12 October 2018. doi: 10.1038/s41431-018-0288-y
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    • Alexandr Reznik, Olga Plotnikova, Andrey Skvortsov, Mikhail Skoblov, Oleg Reznik, and Ancha Baranova. Reperfusion Activates AP-1 and Heat Shock Response in Donor Kidney Parenchyma after Warm Ischemia. BioMed Research International. 2018 Aug 16;2018:5717913. doi: 10.1155/2018/5717913.
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    • Marakhonov AV, Tabakov VY, Zernov NV, Dadali EL, Sharkova IV, Skoblov MY. Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum. Gene. 2018 Jun 9. pii: S0378-1119(18)30677-2.
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    • Korvigo I, Holmatov M, Zaikovskii A, Skoblov M. Putting hands to rest: efficient deep CNN-RNN architecture for chemical named entity recognition with no hand-crafted rules. J Cheminform. 2018 May 23;10(1):28. doi: 10.1186/s13321-018-0280-0.
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    • Korvigo I, Afanasyev A, Romashchenko N, Skoblov M. Generalising better: Applying deep learning to integrate deleteriousness prediction scores for whole-exome SNV studies. PLoS One. 2018 Mar 14;13(3):e0192829. doi: 10.1371/journal.pone.0192829. eCollection 2018.
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    • Tabakov VY, Zinov'eva OE, Voskresenskaya ON, Skoblov MY. Isolation and Characterization of Human Myoblast Culture In Vitro for Technologies of Cell and Gene Therapy of Skeletal Muscle Pathologies. Bull Exp Biol Med. 2018 Mar;164(4):536-542. doi: 10.1007/s10517-018-4028-7. Epub 2018 Mar 4.
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      • ‹‹ 2017 ››

      • NV Zernov, AV Marakhonov, JV Vyakhireva, AA Guskova, EL Dadali, M Yu Skoblov. Clinical and genetic characteristics and diagnostic features of Landouzy-Dejerine facioscapulohumeral muscular dystrophy. Russian Journal of Genetics, 2017/6/1, v.53, 6, p.640-650.
        Springer

      ‹‹ 2016 ››

      • Kural KC, Tandon N, Skoblov M, Kel-Margoulis OV, Baranova AV. Pathways of aging: comparative analysis of gene signatures in replicative senescence and stress induced premature senescence. BMC Genomics. 2016 Dec 28;17 (Suppl 14):1030. doi: 10.1186/s12864-016-3352-4.
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      • Zernov N, Skoblov M, Baranova A, Boyarsky K. Mutations in gonadotropin-releasing hormone signaling pathway in two nIHH patients with successful pregnancy outcomes. Reprod Biol Endocrinol. 2016 Aug 20;14(1):48. doi: 10.1186/s12958-016-0183-8.
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      • Zernov NV, Skoblov MY, Marakhonov AV, Shimomura Y, Vasilyeva TA, Konovalov FA, Abrukova AV, Zinchenko RA. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by а Mutation in the Keratin 25 Gene Expressed in Hair Follicles. J Invest Dermatol. 2016 Jun;136(6):1097-105. doi: 10.1016/j.jid.2016.01.037. Epub 2016 Feb 20.
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      • Skoblov MY, Scobeyeva VA, Baranova AV. The Mechanisms of Transgenerational Inheritance and Their Potential Contribution to Human Phenotypes. Genetika. 2016 Mar;52(3):283-92.
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      ‹‹ 2015 ››

      • Khomenkov VG, Skoblov MY, Korolenkova LI, Kiselev FL. Cloning of alternative isoforms of the catalytic subunit of the human telomerase (HTERT). Mol Gen Mikrobiol Virusol. 2015;33(2):14-9.
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      ‹‹ 2014 ››

      • Filatova A.Yu.1, Skoblov M.Yu. Use of siRNA in cardiovascular diseases therapy. Clin. Experiment. Surg. Petrovsky J. - 2014. N4. - P. 12-19.
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      • Andrey Marakhonov, Nataliya Sadovskaya, Ivan Antonov, Ancha Baranova, Mikhail Skoblov Analysis of discordant Affymetrix probesets casts serious doubt on idea of microarray data reutilization. BMC Genomics. 2014 Dec 19;15 Suppl 12:S8.
        PubMed
      • E.A.Borzov, A.V.Marakhonov, M.V.Ivanov, P.B.Drozdova, A.V.Baranova, and M.Yu.Skoblov RANDTRAN: Random Transcriptome Sequence Generator That Accounts for Partition Specific Features in Eukaryotic mRNA Datasets. Molecular Biology. 2014, Vol. 48, No. 5, pp. 749�756.
      • Glebova K, Reznik ON, Reznik AO, Mehta R, Galkin A, Baranova A, Skoblov M. siRNA Technology in Kidney Transplantation: Current Status and Future Potential. BioDrugs. 2014 Aug;28(4):345-61.
        PubMed

      ‹‹ 2013 ››

      • Skoblov M, Marakhonov A, Marakasova E, Guskova A, Chandhoke V, Birerdinc A, Baranova A. Protein partners of KCTD proteins provide insights about their functional roles in cell differentiation and vertebrate development. Bioessays. 2013 Jul;35(7):586-96. doi: 10.1002/bies.201300002.
        PubMed

      ‹‹ 2012 ››

      • Glebova KV, Marakhonov AV, Baranova AV, Skoblov MIu. Therapeutic siRNAs and non-viral systems for their delivery. Mol Biol (Mosk). 2012 May-Jun;46(3):371-86.
        PubMed Springer
      • Glebova KV, Marakhonov AV, Baranova AV, Skoblov MIu. Non-viral delivery systems of small interfering RNA. Mol Biol (Mosk). 2012 May-Jun;46(3):387-401.
        PubMed Springer
      • AV Marakhonov, MY Skoblov, VA Galkina, RA Zinchenko. Clouston Syndrome: First Case in Russia. Balkan Journal of Medical Genetics 15 (1), 51-54
        PubMed pdf_icon

      ‹‹ 2011 ››

      • Gus'kova AA, Skoblov MIu, Andronova VL, Galegov GA, Kochetkov SN, Skoblov IuS. Enzymatic activity of thymidine kinase of herpes simlex virus strain resistant to H-phosphonates of Acv. Russian Journal of Bioorganic Chemistry, September 2011, Volume 37, Issue 5, pp 560-563
        PubMed Springer
      • Gurvich OL , Skoblov M Real-time PCR and multiplex approaches. Methods Mol Biol. 2011;784:1-13.
        PubMed

      ‹‹ 2010 ››

      • Biderman B, Marakhonov A, Skoblov M, Birerdinc A, Nohelty E, Page S, Khomenkov V, Chandhoke V, Sudarikov A, Nikitin E, Baranova A. Inhibition of potassium currents as a pharmacologic target for investigation in chronic lymphocytic leukemia. Drug News Perspect. 2010 Dec;23(10):625-31.
        PubMed
      • Petrenko AA, Korolenkova LI, Skvortsov DA, Fedorova MD, Skoblov MU, Baranova AV, Zvereva ME, Rubtsova MP, Kisseljov FL Cervical intraepithelial neoplasia: Telomerase activity and splice pattern of hTERT mRNA. Biochimie. 2010 Aug 5. [Epub ahead of print]
        PubMed
      • Korovina AN, Gus'kova AA, Skoblov MIu, Andronova VL, Galegov GA, Kochetkov SN, Kukhanova MK, Skoblov IuS. Analysis of mutations in DNA polymerase and thymidine kinase genes of herpes simplex virus clinical isolates resistant to antiherpetic drugs. Mol Biol (Mosk). 2010 May-Jun; 44(3):488-96.
        [Article in Russian].
        PubMed Springer
      • A.C. Zirzow, M.Skoblov, A. Patanarut, C. Smith, A. Fisher, V. Chandhoke, and A. Baranova. Nanoscale �DNA baskets� for the Delivery of siRNA. International Federation for Medical and Biological Engineering Proceedings 32, 2010, pp. 130�133.
        Springer
      • Birerdinc A, Nohelty E, Marakhonov A, Manyam G, Panov I, Coon S, Nikitin E, Skoblov M, Chandhoke V, Baranova A. Pro-apoptotic and antiproliferative activity of human KCNRG, a putative tumor suppressor in 13q14 region. Tumour Biol. 2010 Jan; 31(1):33-45.
        PubMed
      • M.Yu.Skoblov, E.D.Shibanova, E.V.Kovaleva, D.I.Bairamashvilli, Yu.S.Skoblov, and A.I.Miroshnikov. DNA Assay for Recombinant Pharmaceutical Substances Using the Real-Time PCR Technique. Russian Journal of Bioorganic Chemistry, 2010, Vol. 36, No. 1, pp. 104�108.
        [Article in Russian].
        PubMed Springer

      ‹‹ 2009 ››

      • Manyam G, Baranova A, Skoblov M, Mishra RK. SnS-Align: a graphic tool for alignment of distantly related proteins. Int J Bioinform Res Appl. 2009;5(6):663-73.
        PubMed Iderscience
      • Gus'kova AA, Skoblov MY, Korovina AN, Yasko MV, Karpenko IL, Kukhanova MK, Andronova VL, Galegov GA, Skoblov YS. Antiherpetic Properties of Acyclovir 5'-Hydrogenphosphonate and the Mutation Analysis of Herpes Virus Resistant Strains. Chem Biol Drug Des. 2009 Oct;74(4):382-9.
        PubMed
      • M.Yu.Skoblov. Prospects of technologies of antisense therapy. Molecular Biology, 2009, V. 43, � 6, p. 1�15.
        PubMed Springer
      • Aybike Birerdinc, Elizabeth Nohelty, Andre Marakhonov, Eugene Nikitin, Mikhail Skoblov, Vikas Chandhoke, Ancha Baranova. A Search for a Tumor Suppressor Gene Responsible for B-Cell Chronic Lymphocytic Leukemia: Old Leads and New Hopes. The International Cancer Journal of Australia and Asia. Vol. 8, No. 2, April 2009, pp.113-120.
        PubMed

      ‹‹ 2008 ››

      • A.V.Marakhonov, A.V.Baranova, �.Yu.Skoblov. RNA interference: fundamentals and applications. Medical genetics, 2008, �10 (76), �p.44-56.
        [Article in Russian].
      • �.Yu.Skoblov, A.V.Marakhonov, �.�.Guskova, A.V.Baranova, R.A.Zinchenko. Investigation �607903. Localized autosomal recessive hypotrichosis. Medical genetics, 2008, �8 (74), p�.3-9.
        [Article in Russian].
      • Skoblov M.Yu., Baranova A.V. Modern approaches to the single strand antisense therapy of the human malignancies. Molecular medicine, 2008, V.5, p�.12-19.
        [Article in Russian].
      • A.V.Marakhonov, A.V.Baranova, M.Yu.Skoblov. Antisense Regulation of Human Gene MAP3K13: True Phenomenon or Artifact? Molecular Biology, 2008, Vol. 42, No. 4, pp. 514�520.

        PubMed Springer

      ‹‹ 2007 ››

      • A.A Gus'kova, �.Yu.Skoblov, �.V.Baranova. Life and Death of CFTR protein. Medical genetics, 2007. � V.2. � �. 3-10.
        [Article in Russian].
      • Nurutdinova O.S., Petrova N.V., Baranova A.V., Ginter E.K., Skoblov M.Yu. Search of the point mutations in the promotor and 5' region of CFRT human gene. Medical genetics, 2007. � V.3. � p. 23-26.
        [Article in Russian].

      ‹‹ 2006 ››

      • Stepanova M, Tiazhelova T, Skoblov M, Baranova A. Potential regulatory SNPs in promoters of human genes: A systematic approach. Mol Cell Probes. 2006 Dec;20(6):348-58. Epub 2006 May 6.
        PubMed
      • Klimov D, Skoblov M, Ryazantzev A, Tyazhelova T, Baranova A. In silico search for natural antisense transcripts reveals their differential expression in human tumors. J Bioinform Comput Biol. 2006 Apr;4(2):515-521.
        PubMed Springer
        pdf_icon
      • Skoblov M, Shakhbazov K, Oshchepkov D, Ivanov D, Guskova A, Ivanov D, Rubtsov P, Prasolov V, Yankovsky N, Baranova A. Human RFP2 gene promoter: unique structure and unusual strength. Biochem Biophys Res Commun. 2006 Apr 14;342(3):859-66. Epub 2006 Feb 17.
        PubMed

      ‹‹ 2005 ››

      • Stepanova M, Tiazhelova T, Skoblov M, Baranova A. A comparative analysis of relative occurrence of transcription factor binding sites in vertebrate genomes and gene promoter areas. Bioinformatics. 2005 May 1;21(9):1789-96. Epub 2005 Feb 4.
        PubMed
      • Gus'kova AA, Zagurnyi AV, Skoblov MIu, Baranova AV, Andronova VL, Iankovskii NK, Galegov GA, Skoblov IuS. Molecular genetic analysis of thimidine kinase from herpes simplex virus type 1. Mol Biol (Mosk). 2005 Jan-Feb; 39(1):155-8.
        [Article in Russian].
        PubMed Springer
      • Aleksandrov AN, Skoblov IuS, Skoblov MIu, Shibanova ED, Bairamashvili DI, Miroshnikov AI. A PCR-based semiquantitative assay of DNA impurities in recombinant protein preparations. Bioorg Khim. 2005 Jan-Feb;31(1):73-6.
        [Article in Russian].
        PubMed Springer

      ‹‹ 2004 ››

      • Baranova A, Ivanov D, Petrash N, Pestova A, Skoblov M, Kelmanson I, Shagin D, Nazarenko S, Geraymovych E, Litvin O, Tiunova A, Born TL, Usman N, Staroverov D, Lukyanov S, Panchin Y. The mammalian pannexin family is homologous to the invertebrate innexin gap junction proteins. Genomics. 2004 Apr;83(4):706-16.
        PubMed

      ‹‹ 2003 ››

      • Andrei Lobashev, Mikhail Skoblov, Maria Stepanova, Igor Moiseev, Linda Dickerson, Ancha Baranova, Andrei Mironov, Nick Yankovsky. Single nucleotide polymorphism density distribution in the human genome as seen in public databases: possibility of gene set comparisons but not comparisons of genomic regions. Biophysics (Moscow). Vol. 48, Suppl. 1, 2003. 81-84.
        pdf_icon pdf_icon
      • Baranova A, Hammarsund M, Ivanov D, Skoblov M, Sangfelt O, Corcoran M, Borodina T, Makeeva N, Pestova A, Tyazhelova T, Nazarenko S, Gorreta F, Alsheddi T, Schlauch K, Nikitin E, Kapanadze B, Shagin D, Poltaraus A, Ivanovich Vorobiev A, Zabarovsky E, Lukianov S, Chandhoke V, Ibbotson R, Oscier D, Einhorn S, Grander D, Yankovsky N. Distinct organization of the candidate tumor suppressor gene RFP2 in human and mouse: multiple mRNA isoforms in both species- and human-specific antisense transcript RFP2OS. Gene. 2003 Dec 4;321:103-12.
        PubMed

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