Skoblov M.Yu
Количество цитирований статей в журналах по данным
Web of Science: 89,
Scopus: 104
IstinaResearcherID (IRID): 12387880
Деятельность
Статьи в журналах
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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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