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Интеллектуальная Система Тематического Исследования НАукометрических данных |
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Skoblov M.Yu
Соавторы: Марахонов А.В., Skoblov Y.S., ГАЛЕГОВ Г.А., Короленкова Л.И., Кочетков С.Н., Ancha B., Andronova V.L., Khomenkov V.G., Kukhanova M., Киселев Ф.Л., Коровина А.Н., Baranova A.V., Biderman B.V.показать полностью...
51 статья, 3 доклада на конференциях
Количество цитирований статей в журналах по данным
Web of Science: 89,
Scopus: 104
IstinaResearcherID (IRID): 12387880
Деятельность
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Статьи в журналах
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- 2023 Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5'UTRs
- Filatova Alexandra, Reveguk Ivan, Piatkova Maria, Bessonova Daria, Kuziakova Olga, Demakova Victoria, Romanishin Alexander, Fishman Veniamin, Imanmalik Yerzhan, Chekanov Nikolay, Skitchenko Rostislav, Barbitoff Yury, Kardymon Olga, Skoblov Mikhail
- в журнале Nucleic Acids Research, издательство Oxford University Press (United Kingdom) DOI
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- 2022 A Founder Mutation in the POMC 5'-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
- Viakhireva Iuliia, Kalinchenko Natalia, Vasilyev Evgeny, Chistousova Galina V., Filatova Alexandra, Marakhonov Andrey, Rubtsov Petr M., Skoblov Mikhail, Tiulpakov Anatoly
- в журнале Journal of Clinical Endocrinology and Metabolism, издательство The Endocrine Society (United States), том 107, № 9, с. e3654-e3660 DOI
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- 2022 Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene
- Sharkov Artem, Sparber Peter, Stepanova Anna, Pyankov Denis, Korostelev Sergei, Skoblov Mikhail
- в журнале Frontiers in genetics, издательство Frontiers Research Foundation. (Lausanne, Switzerland), том 13 DOI
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- 2022 Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene
- Sharova Margarita, Skoblov Mikhail, Dadali Elena, Demina Nina, Shchagina Olga, Konovalov Fedor, Ampleeva Maria, Sharkova Inna, Kutsev Sergey
- в журнале Frontiers in neurology, издательство Frontiers Research Foundation (Switzerland), том 13 DOI
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- 2022 Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene
- Sharova Margarita, Guseva Darya, Kurenkov Alexey, Novoselova Olga, Murtazina Aysylu, Skoblov Mikhail
- в журнале American journal of medical genetics. Part A, издательство Wiley-Liss Inc (United States), том 188, № 10, с. 3100-3105 DOI
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- 2022 Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene
- Semenova Natalia, Marakhonov Andrey, Ampleeva Maria, Kurkina Marina, Baydakova Galina, Skoblov Mikhail, Taran Natalia, Babak Olga, Shchukina Ekaterina, Strokova Tatyana
- в журнале International Journal of Molecular Sciences, издательство MDPI (Basel, Switzerland), том 23, № 23, с. 15026 DOI
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- 2022 Meier–Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test
- Nazarenko Maria S., Viakhireva Iuliia V., Skoblov Mikhail Y., Soloveva Elena V., Sleptcov Aleksei A., Nazarenko Ludmila P.
- в журнале International Journal of Molecular Sciences, издательство MDPI (Basel, Switzerland), том 23, № 16, с. 9234 DOI
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- 2022 Splice-site variant in the RPS7 5'-UTR leads to a decrease in the mRNA level and development of Diamond-Blackfan anemia
- Skorodumova Liubov O., Davydenko Ksenia A., Filatova Alexandra Y., Skoblov Mikhail Yu, Kulemin Nikolay A., Khadzhieva Maryam B., Zakharova Elena S., Gordeeva Veronika D., Smetanina Nataliya S., Fedyushkina Irina V., Anastasevich Lyudmila A., Larin Sergey S.
- в журнале Clinical Genetics, издательство Blackwell Publishing Inc. (United Kingdom), том 103, № 1, с. 93-96 DOI
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- 2022 mRNA analysis revealed a novel pathogenic EIF2S3 variant causing MEHMO syndrome
- Ivanova Nadezda, Serzhanova Victoria, Demina Nina, Guseva Darya, Skoblov Mikhail
- в журнале European Journal of Medical Genetics, издательство Elsevier BV (Netherlands), том 65, № 2, с. 104421 DOI
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- 2021 Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C
- Bychkov Igor, Filatova Alexandra, Perelman Grigory, Proshlyakova Tatiana, Korotkova Daria, Klyushnikov Sergey, Karpova Maria, Tabakov Vyacheslav, Baydakova Galina, Ilyushkina Alexandra, Skoblov Mikhail, Zakharova Ekaterina
- в журнале European Journal of Human Genetics, издательство Nature Publishing Group (United Kingdom), том 30, № 1, с. 133-136 DOI
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- 2021 Alkaptonuria in Russia: mutational spectrum and novel variants
- Bychkov Igor, Kamenets Elena, Kurkina Marina, Rychkov Georgiy, Ilyushkina Alexandra, Filatova Aleksandra, Guseva Darya, Baydakova Galina, Nekrasov Andrey, Cheblokov Aleksandr, Skoblov Mikhail, Zakharova Ekaterina
- в журнале European Journal of Medical Genetics, издательство Elsevier BV (Netherlands), том 64, № 4, с. 104165 DOI
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- 2021 Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome
- Sparber Peter, Mikhaylova Svetlana, Galkina Varvara, Itkis Yulia, Skoblov Mikhail
- в журнале Frontiers in neurology, издательство Frontiers Research Foundation (Switzerland), том 12 DOI
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- 2021 Complex Transposon Insertion as a Novel Cause of Pompe Disease
- Bychkov Igor, Baydakova Galina, Filatova Alexandra, Migiaev Ochir, Marakhonov Andrey, Pechatnikova Nataliya, Pomerantseva Ekaterina, Konovalov Fedor, Ampleeva Maria, Kaimonov Vladimir, Skoblov Mikhail, Zakharova Ekaterina
- в журнале International Journal of Molecular Sciences, издательство MDPI (Basel, Switzerland), том 22, № 19, с. 10887 DOI
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- 2021 FSHD1 Diagnosis in a Russian Population Using a qPCR-Based Approach
- Zernov Nikolay Vladimirovich, Guskova Anna Alekseevna, Skoblov Mikhail Yurevich
- в журнале DIAGNOSTICS, том 11, № 6, с. 982 DOI
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- 2021 Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing
- Bychkov Igor, Galushkin Artur, Filatova Alexandra, Nekrasov Andrey, Kurkina Marina, Baydakova Galina, Ilyushkina Alexandra, Skoblov Mikhail, Zakharova Ekaterina
- в журнале International Journal of Molecular Sciences, издательство MDPI (Basel, Switzerland), том 22, № 8, с. 4154 DOI
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- 2021 Investigation of LINC00493/SMIM26 Gene Suggests Its Dual Functioning at mRNA and Protein Level
- Konina Daria, Sparber Peter, Viakhireva Iuliia, Filatova Alexandra, Skoblov Mikhail
- в журнале International Journal of Molecular Sciences, издательство MDPI (Basel, Switzerland), том 22, № 16, с. 8477 DOI
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- 2021 Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia
- Marakhonov A.V., Přechová M., Konovalov F.A., Filatova A.Y., Zamkova M.A., Kanivets I.V., Solonichenko V.G., Semenova N.A., Zinchenko R.A., Treisman R., Skoblov M.Y.
- в журнале Clinical Genetics, издательство Blackwell Publishing Inc. (United Kingdom), том 99, № 5, с. 673-683 DOI
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- 2021 Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia
- Sparber Peter, Krylova Tatiana, Repina Svetlana, Demina Nina, Rudenskaya Galina, Sharkova Inna, Sharkov Artem, Kadyshev Vitaly, Kanivets Ilya, Korostelev Sergey, Pomerantseva Ekaterina, Kaimonov Vladimir, Mikhailova Svetlana, Zakharova Ekaterina, Skoblov Mikhail
- в журнале Parkinsonism and Related Disorders, издательство Elsevier BV (Netherlands), том 84, с. 98-104 DOI
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- 2021 Upstream ORF frameshift variants in the PAX6 5'UTR cause congenital aniridia
- Filatova Alexandra Y., Vasilyeva Tatyana A., Marakhonov Andrey V., Sukhanova Natella V., Voskresenskaya Anna A., Zinchenko Rena A., Skoblov Mikhail Y.
- в журнале Human Mutation, издательство John Wiley & Sons Inc. (United States), том 42, № 8, с. 1053-1065 DOI
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- 2020 Analysis of candidate genes expected to be essential for melanoma surviving
- Krivosheeva Irina A., Filatova Alexandra Yu, Moshkovskii Sergei A., Baranova Ancha V., Skoblov Mikhail Yu
- в журнале Cancer Cell International, издательство BioMed Central (London), том 20, № 1 DOI
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- 2020 Genome scale analysis of pathogenic variants targetable for single base editing
- Lavrov Alexander V., Varenikov Georgi G., Skoblov Mikhail Yu
- в журнале BMC Medical Genomics, издательство BioMed Central (London), том 13, № S8 DOI
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- 2020 Novel intronic variant in PALB2 gene and effective prevention of Fanconi anemia in family
- Viakhireva I., Musatova E., Bessonova L., Shcherbatyuk Y., Korobkov S., Zhikriveckaya S., Sofronova Ya, Mironova I., Khmelkova D., Konovalov F., Baranova A., Pomerantseva E., Skoblov M.
- в журнале Familial Cancer, издательство Springer Nature (Switzerland), том 19, № 3, с. 241-246 DOI
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- 2020 Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report
- Sparber Peter, Sharova Margarita, Filatova Alexandra, Shchagina Olga, Ivanova Evgeniya, Dadali Elena, Skoblov Mikhail
- в журнале BMC Medical Genetics, издательство BioMed Central (London), том 21, № S1 DOI
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- 2020 Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome
- Sparber Peter, Filatova Alexandra, Anisimova Inga, Markova Tatiana, Voinova Viktoria, Chuhrova Alena, Tabakov Vyacheslav, Skoblov Mikhail
- в журнале European Journal of Medical Genetics, издательство Elsevier BV (Netherlands), том 63, № 12, с. 104088 DOI
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- 2019 Comprehensive Analysis of Human microRNA–mRNA Interactome
- Plotnikova Olga, Baranova Ancha, Skoblov Mikhail
- в журнале Frontiers in genetics, издательство Frontiers Research Foundation. (Lausanne, Switzerland), том 10 DOI
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- 2019 Genotype-phenotype correlations in FSHD
- Zernov Nikolay, Skoblov Mikhail
- в журнале BMC Medical Genomics, издательство BioMed Central (London), том 12, № S2 DOI
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- 2019 LINC01420 RNA structure and influence on cell physiology
- Konina Daria O., Filatova Alexandra Yu, Skoblov Mikhail Yu
- в журнале BMC Genomics, издательство BioMed Central (London), том 20, № S3 DOI
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- 2019 Noncompaction 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
- Marakhonov Andrey V., Brodehl Andreas, Myasnikov Roman P., Sparber Peter A., Kiseleva Anna V., Kulikova Olga V., Meshkov Alexey N., Zharikova Anastasia A., Koretsky Serguey N., Kharlap Maria S., Stanasiuk Caroline, Mershina Elena A., Sinitsyn Valentin E., Shevchenko Alexey O., Mozheyko Natalia P., Drapkina Oksana M., Boytsov Sergey A., Milting Hendrik, Skoblov Mikhail Yu
- в журнале Human Mutation, издательство John Wiley & Sons Inc. (United States), том 40, № 6, с. 734-741 DOI
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- 2019 The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency
- Bychkov I.O., Kamenets E.A., Filatova A.Yu, Skoblov M.Yu, Mikhaylova S.V., Strokova T.V., Gundobina O.S., Zakharova E.Yu
- в журнале Molecular Genetics and Metabolism, издательство Academic Press (United States), том 127, № 3, с. 212-215 DOI
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- 2019 The role of long non-coding RNAs in the pathogenesis of hereditary diseases
- Sparber Peter, Filatova Alexandra, Khantemirova Mira, Skoblov Mikhail
- в журнале BMC Medical Genomics, издательство BioMed Central (London), том 12, № S2 DOI
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- 2019 X-linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>$\mathsemicolon$G) splice site mutation
- Milovidova T.B., Schagina O.A., Freire M.V., Demina N.A., Filatova A.Y., Skoblov M.Y., Stepanova A.A., Chuhrova A.L., Polyakov A.V.
- в журнале Journal of the European Academy of Dermatology and Venereology, издательство Elsevier BV (Netherlands), том 33, № 12 DOI
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- 2018 Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay
- Filatova Alexandra Yu, Vasilyeva Tatiana A., Marakhonov Andrey V., Voskresenskaya Anna A., Zinchenko Rena A., Skoblov Mikhail Yu
- в журнале European Journal of Human Genetics, издательство Nature Publishing Group (United Kingdom), том 27, № 3, с. 488-493 DOI
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- 2018 Generalising better: Applying deep learning to integrate deleteriousness prediction scores for whole-exome SNV studies
- Korvigo Ilia, Afanasyev Andrey, Romashchenko Nikolay, Skoblov Mikhail
- в журнале PLoS ONE, издательство Public Library of Science (United States), том 13, № 3, с. e0192829 DOI
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- 2018 Isolation and Characterization of Human Myoblast Culture In Vitro for Technologies of Cell and Gene Therapy of Skeletal Muscle Pathologies
- Tabakov V.Yu, Zinov’eva O.E., Voskresenskaya O.N., Skoblov M.Yu
- в журнале Bulletin of Experimental Biology and Medicine, издательство Springer Nature (Switzerland), том 164, № 4, с. 536-542 DOI
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- 2018 Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome
- Filatova Alexandra, Freire Valeria, Lozier Ekaterina, Konovalov Fedor, Bessonova Ludmila, Iudina Elena, Gnetetskaya Valentina, Kanivets Ilya, Korostelev Sergey, Skoblov Mikhail
- в журнале Clinical Genetics, издательство Blackwell Publishing Inc. (United Kingdom), том 95, № 3, с. 440-441 DOI
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- 2018 Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing
- Sparber Peter, Marakhonov Andrey, Filatova Alexandra, Sharkova Inna, Skoblov Mikhail
- в журнале Neurogenetics, издательство Springer Verlag (Germany), том 19, № 4, с. 257-260 DOI
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- 2018 Putting hands to rest: efficient deep CNN-RNN architecture for chemical named entity recognition with no hand-crafted rules
- Korvigo Ilia, Holmatov Maxim, Zaikovskii Anatolii, Skoblov Mikhail
- в журнале Journal of Cheminformatics, издательство Chemistry Central (United Kingdom), том 10, № 1 DOI
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- 2018 Reperfusion Activates AP-1 and Heat Shock Response in Donor Kidney Parenchyma after Warm Ischemia
- Reznik Alexandr, Plotnikova Olga, Skvortsov Andrey, Skoblov Mikhail, Reznik Oleg, Baranova Ancha
- в журнале BioMed Research International, том 2018, с. 1-9 DOI
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- 2018 Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum
- Marakhonov Andrey V., Tabakov Vyacheslav Yu, Zernov Nikolay V., Dadali Elena L., Sharkova Inna V., Skoblov Mikhail Yu
- в журнале Gene, издательство Elsevier BV (Netherlands), том 672, с. 165-171 DOI
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- 2016 The mechanisms of transgenerational inheritance and their potential contribution to human phenotypes
- Skoblov M.Yu, Scobeyeva V.A., Baranova A.V.
- в журнале Russian Journal of Genetics, издательство Maik Nauka/Interperiodica Publishing (Russian Federation), том 52, № 3, с. 249-256 DOI
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- 2015 CLONING OF ALTERNATIVE ISOFORMS OF THE CATALYTIC SUBUNIT OF THE HUMAN TELOMERASE (HTERT)
- Khomenkov V.G., Korolenkova L.I., Kiselev F.L., Skoblov M.Y.
- в журнале Molecular Genetics, Microbiology and Virology, издательство Allerton Press Inc. (United States), том 30, № 2, с. 71-77
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- 2015 Cloning of alternative isoforms of the catalytic subunit of the human thelomerase (htert)
- Khomenkov V.G., Skoblov M.Yu, Korolenkova L.I., Kiselev FL
- в журнале Molekuliarnaia genetika, mikrobiologiia i virusologiia, издательство Meditsina Publishers (Russian Federation), том 33, № 2, с. 14-19
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- 2013 Protein partners of KCTD proteins provide insights about their functional roles in cell differentiation and vertebrate development
- Skoblov Mikhail, Marakhonov Andrey, Marakasova Ekaterina, Guskova Anna, Chandhoke Vikas, Birerdinc Aybike, Baranova Ancha
- в журнале BioEssays, издательство John Wiley & Sons Inc. (United States), том 35, № 7, с. 586-596 DOI
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- 2011 Enzymatic activity of thymidine kinases of a herpes simplex virus strains resistant to acyclovir H-phosphonates
- Gus’kova A.A., Skoblov M.Yu, Andronova V.L., Galegov G.A., Kochetkov S.N., Skoblov Yu S.
- в журнале Russian Journal of Bioorganic Chemistry, издательство Maik Nauka/Interperiodica Publishing (Russian Federation), том 37, № 5, с. 560-563 DOI
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- 2011 [Enzymatic activity of thymidine kinase of herpes simlex virus strain resistant to H-phosphonates of Acv]
- Gus'kova A.A., Skoblov M.Iu, Andronova V.L., Galegov G.A., Kochetkov S.N., Skoblov Iu S.
- в журнале Bioorganicheskaia khimiia, том 37, № 5, с. 627-30
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- 2010 Analysis of mutations in DNA polymerase and thymidine kinase genes of herpes simplex virus clinical isolates resistant to antiherpetic drugs
- Korovina A.N., Gus'kova A.A., Skoblov M.Iu, Andronova V.L., Galegov G.A., Kochetkov S.N., Kukhanova M.K., Skoblov Iu S.
- в журнале Molekuliarnaia biologiia, издательство Russian Academy of Sciences (Russian Federation), том 44, № 3, с. 488-496
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- 2010 CERVICAL INTRAEPITHELIAL NEOPLASIA: TELOMERASE ACTIVITY AND SPLICE PATTERN OF HTERT MRNA
- Petrenko A.A., Korolenkova L.I., Fedorova M.D., Kisseljov F.L., Skvortsov D.A., Zvereva M.E., Rubtsova M.P., Skoblov M.U., Baranova A.V.
- в журнале Enfermedades Infecciosas y Microbiologia Clinica, издательство Ediciones Doyma S.A. (Spain), том 28, № 3, с. 1827-1831
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- 2010 Cervical intraepithelial neoplasia: Telomerase activity and splice pattern of hTERT mRNA
- Petrenko A.A., Korolenkova L.I., Skvortsov D.A., Fedorova M.D., Skoblov M.U., Baranova A.V., Zvereva M.E., Rubtsova M.P., Kisseljov F.L.
- в журнале Biochimie, издательство Elsevier BV (Netherlands), том 92, № 12, с. 1827-1831 DOI
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- 2010 Inhibition of potassium currents as a pharmacologic target for investigation in chronic lymphocytic leukemia
- Biderman B., Marakhonov A., Skoblov M., Birerdinc A., Nohelty E., Page S., Khomenkov V., Chandhoke V., Sudarikov A., Nikitin E.
- в журнале Drug News and Perspectives, издательство J.R. Prous (Spain), том 23, № 10, с. 625 DOI
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- 2010 Mutations in the DNA polymerase and thymidine kinase genes of herpes simplex virus clinical isolates resistant to antiherpetic drugs
- Korovina A.N., Gus’kova A.A., Skoblov M.Yu, Andronova V.L., Galegov G.A., Kochetkov S.N., Kukhanova M.K., Skoblov Yu S.
- в журнале Molecular Biology, издательство Maik Nauka/Interperiodica Publishing (Russian Federation), том 44, № 3, с. 431-438 DOI
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- 2004 The mammalian pannexin family is homologous to the invertebrate innexin gap junction proteins
- Baranova A., Ivanov D., Petrash N., Pestova A., Skoblov M., Kelmanson I., Shagin D., Nazarenko S., Geraymovych E., Litvin O., Tiunova A., Born T.L., Usman N., Staroverov D., Lukyanov S., Panchin Y.
- в журнале Genomics, издательство Academic Press (United States), том 83, № 4, с. 706-16 DOI
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Доклады на конференциях
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- 2013 New insights from Affymetrix expression microarray data analysis (Стендовый)
- Авторы: Marakhonov A.V., Sadovskaya N.S., Borzov E., Baranova A.V., Skoblov M.Yu
- The 6th International Moscow Conference on Computational Molecular Biology, Москва, Россия, 25-28 июля 2013
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- 2013 Application of microarray expression data for reveal of gene regulation network (Устный)
- Авторы: Marakhonov A.V., Sadovskaya N.S., Borzov E.A., Baranova A.V., Skoblov M.Yu
- II Конференция участников российского биомаркерного консорциума, Москва, Россия, 19 февраля 2013
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- 2012 Validation of affymetrix probe sets: new approaches to the old problem. (Стендовый)
- Авторы: Marakhonov A.V., Sadovskaya N.S., Baranova A.V., Skoblov M.Yu
- The Eighth International Conference on Bioinformatics of Genome Regulation and Structure\Systems Biology, Новосибирск, Россия, 25-29 июня 2012
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