Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Mikhail A, Fedyakov"'
Autor:
Anton E. Shikov, Yury A. Barbitoff, Andrey S. Glotov, Maria M. Danilova, Ziravard N. Tonyan, Yulia A. Nasykhova, Anastasia A. Mikhailova, Olesya N. Bespalova, Roman S. Kalinin, Azizahon M. Mirzorustamova, Igor Yu Kogan, Vladislav S. Baranov, Alexander N. Chernov, Dragana M. Pavlovich, Sergey V. Azarenko, Mikhail A. Fedyakov, Victoria V. Tsay, Yuri A. Eismont, Olga V. Romanova, Dmitry N. Hobotnikov, Dmitry A. Vologzhanin, Sergei V. Mosenko, Tatiana A. Ponomareva, Yana A. Talts, Anna U. Anisenkova, Dmitrii G. Lisovets, Andrey M. Sarana, Stanislav P. Urazov, Sergey G. Scherbak, Oleg S. Glotov
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
ObjectivesIn March 2020, the World Health Organization declared that an infectious respiratory disease caused by a new severe acute respiratory syndrome coronavirus 2 [SARS-CoV-2, causing coronavirus disease 2019 (COVID-19)] became a pandemic. In our
Externí odkaz:
https://doaj.org/article/033c35b44e6c41b8a23ac91d88de78ad
Autor:
Yury A. Barbitoff, Rostislav K. Skitchenko, Olga I. Poleshchuk, Anton E. Shikov, Elena A. Serebryakova, Yulia A. Nasykhova, Dmitrii E. Polev, Anna R. Shuvalova, Irina V. Shcherbakova, Mikhail A. Fedyakov, Oleg S. Glotov, Andrey S. Glotov, Alexander V. Predeus
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
Abstract Background Allele frequency data from large exome and genome aggregation projects such as the Genome Aggregation Database (gnomAD) are of ultimate importance to the interpretation of medical resequencing data. However, allele frequencies mig
Externí odkaz:
https://doaj.org/article/8047bdd641c54668bc1ab8afc74830ac
Autor:
Mikhail А. Fedyakov, Yuriy А. Barbitov, Elena A. Serebryakova, Тatiana M. Pervunina, Nikolay N. Vlasov, Еlena А. Kornienko, Аndrey S. Glotov, Аndrey М. Sarana, Sergey G. Shcherbak, Оleg S. Glotov
Publikováno v:
Педиатрическая фармакология, Vol 15, Iss 2, Pp 184-185 (2018)
Lysosomal acid lipase deficiency is a rare hereditary progressive disease of lipid metabolism leading to the development of atherosclerosis, hepatosplenomegaly, liver cirrhosis, malabsorption, and other symptoms. In the absence of specific treatment,
Externí odkaz:
https://doaj.org/article/f3aafd9f6a354aefaa9fcd5864718443
Autor:
Oleg S. Glotov, Kirill V. Savostyanov, Tatyana S. Nagornova, Alexandr N. Chernov, Mikhail A. Fedyakov, Aleksandra N. Raspopova, Konstantin N. Krasnoukhov, Lavrentii G. Danilov, Nadegda V. Moiseeva, Roman S. Kalinin, Victoria V. Tsai, Yuri A. Eismont, Victoria Y. Voinova, Alisa V. Vitebskaya, Elena Y. Gurkina, Ludmila M. Kuzenkova, Irina B. Sosnina, Alexander A. Pushkov, Ilya S. Zhanin, Ekaterina Y. Zakharova
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 21; Pages: 12976
(1) Hypophosphatasia (HPP) is a rare inherited disease caused by mutations (pathogenic variants) in the ALPL gene which encodes tissue-nonspecific alkaline phosphatase (TNSALP). HPP is characterized by impaired bone mineral metabolism due to the low
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bf61a62898f47eaa5ab9d0e5b673c08
https://doi.org/10.3390/ijms232112976
https://doi.org/10.3390/ijms232112976
Autor:
Alena Rudnik, Sergey G. Sherbak, Oleg S. Glotov, Anton E. Shikov, Mikhail A. Fedyakov, Viktoriya V. Tsay, Stanislav Urasov, Yuri A. Eismont
Publikováno v:
Biological Communications. 66
The emergence of long-read sequencing technologies has made a revolutionary step in genome biology and medicine. However, long reads are characterized by a relatively high error rate, impairing their usage for variant calling as a part of routine pra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::09552bcddbc6fafa5513511f24ed8596
https://doi.org/10.21638/spbu03.2021.202
https://doi.org/10.21638/spbu03.2021.202
Autor:
Yury A. Barbitoff, Mikhail A. Fedyakov, Sorejya A. Urazgildeeva, Natalia A. Semenova, Sergey G. Scherbak, Andrey S. Glotov, V. V. Miroshnikova, Andrey M. Sarana, Victor S. Gurevich, O N Ivanova, Oleg S. Glotov, Olga V. Romanova, A A Panteleeva, Stanislav P. Urazov, Maria V. Muzalevskaya, Inga V. Anisimova, Ekaterina Y. Zakharova, S.N. Pchelina, Darya M. Guseva
Publikováno v:
Biomedical Reports. 14
Familial hypercholesterolemia (FH) is caused by mutations in various genes, including the LDLR, APOB and PSCK9 genes; however, the spectrum of these mutations in Russian individuals has not been fully investigated. In the present study, mutation scre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7f22a80a75c1f0672175e43a3dfc1008
https://doi.org/10.3892/br.2020.1391
https://doi.org/10.3892/br.2020.1391
Autor:
Valentina V, Miroshnikova, Olga V, Romanova, Olga N, Ivanova, Mikhail A, Fedyakov, Alexandra A, Panteleeva, Yury A, Barbitoff, Maria V, Muzalevskaya, Sorejya A, Urazgildeeva, Victor S, Gurevich, Stanislav P, Urazov, Sergey G, Scherbak, Andrey M, Sarana, Natalia A, Semenova, Inga V, Anisimova, Darya M, Guseva, Sofya N, Pchelina, Andrey S, Glotov, Ekaterina Y, Zakharova, Oleg S, Glotov
Publikováno v:
Biomedical Reports
Familial hypercholesterolemia (FH) is caused by mutations in various genes, including the LDLR, APOB and PSCK9 genes; however, the spectrum of these mutations in Russian individuals has not been fully investigated. In the present study, mutation scre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4c50764597b8d563e63f0d755b6da455
https://pubmed.ncbi.nlm.nih.gov/33269076
https://pubmed.ncbi.nlm.nih.gov/33269076
Autor:
Irina V. Shcherbakova, Rostislav K. Skitchenko, Mikhail A. Fedyakov, Anton E. Shikov, Dmitrii E. Polev, Yulia A. Nasykhova, Yury A. Barbitoff, Andrey S. Glotov, Alexander V. Predeus, Olga I. Poleshchuk, Elena A. Serebryakova, Anna R. Shuvalova, Oleg S. Glotov
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Allele frequency data from large exome and genome aggregation projects such as the Genome Aggregation Database (gnomAD) are of ultimate importance to the interpretation of medical resequencing data. However, allele frequencies might signif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c005673be24496816515796828f12dd9
https://doaj.org/article/8047bdd641c54668bc1ab8afc74830ac
https://doaj.org/article/8047bdd641c54668bc1ab8afc74830ac
Autor:
Liubov R. Lonishin, Elena B. Bashnina, Andrey S. Glotov, Dmitrii E. Polev, Alena V. Tiselko, Olga Berseneva, Yury A. Barbitoff, Ekaterina V. Musina, Anna A. Pendina, Natalia Yu. Shved, V. S. Baranov, Olga V. Romanova, Elena A. Serebryakova, Oleg S. Glotov, Andrey M. Sarana, Olga A. Efimova, Yulia A. Nasykhova, Evgenii N. Suspitsin, Ludmila V. Tyrtova, Elena S. Shabanova, Anastasiia V. Petrovskaia‑Kaminskaia, Sergey G. Scherbak, T. E. Ivashchenko, Mariia E. Turkunova, Alexander V. Predeus, Liudmila А. Zhelenina, Liliya V. Ditkovskaya, Mikhail A. Fedyakov, Irina V. Polyakova, Rostislav K. Skitchenko
Publikováno v:
Molecular Medicine Reports
The present study reports on the frequency and the spectrum of genetic variants causative of monogenic diabetes in Russian children with non‑type 1 diabetes mellitus. The present study included 60 unrelated Russian children with non‑type 1 diabet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3de55259cc5d198bfec597e54dbb214a
https://doi.org/10.3892/mmr.2019.10751
https://doi.org/10.3892/mmr.2019.10751
Autor:
Yury A. Barbitoff, Diana Alaverdian, Inna G. Tuluzanovskaya, Olga V. Romanova, Mariya S. Balashova, Andrey M. Sarana, Andrey S. Glotov, Sergey G. Scherbak, Tatiana E. Ivashchenko, Aliy Yu. Asanov, Oleg S. Glotov, Tatiana M. Ignatova, Anatoly V. Skalny, Mikhail A. Fedyakov, Natalya A. Zhuchenko, Vladislav S Baranov, Marat I. Filimonov
Publikováno v:
Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS). 59
Background. Wilson’s disease (WD) is a rare inherited disorder caused by mutations in the ATP7B gene resulting in copper accumulation in different organs. However, data on ATP7B mutation spectrum in Russia and worldwide are insufficient and contrad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a12c426dde34cfe919a4dbb73e604c4
https://pubmed.ncbi.nlm.nih.gov/31708252
https://pubmed.ncbi.nlm.nih.gov/31708252