Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Anastasia V. Tumakova"'
Autor:
Rinat K. Raupov, Evgeny N. Suspitsin, Elvira M. Kalashnikova, Lubov S. Sorokina, Tatiana E. Burtseva, Vera M. Argunova, Rimma S. Mulkidzhan, Anastasia V. Tumakova, Mikhail M. Kostik
Publikováno v:
Biomedicines, Vol 12, Iss 6, p 1244 (2024)
Introduction: Interferon I (IFN I) signaling hyperactivation is considered one of the most important pathogenetic mechanisms in systemic lupus erythematosus (SLE). Early manifestation and more severe SLE courses in children suggest a stronger genetic
Externí odkaz:
https://doaj.org/article/4e8d648124e74cdba2465be24f105635
Autor:
Olga V. Zhogova, Sergey V. Ivanovskiy, Natalya V. Lagunova, Anastasia V. Tumakova, Mikhail M. Kostik
Publikováno v:
Вопросы современной педиатрии, Vol 19, Iss 3, Pp 200-206 (2020)
Background. Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease. It is more typical among Turks, Jews, Armenians, Arabs and nationalities permanently living in the Mediterranean area. Crimean Tatars were not consi
Externí odkaz:
https://doaj.org/article/41e975eb33c2433c8a603b5b471e565f
Autor:
Mikhail M. Kostik, Rinat K. Raupov, Evgeny N. Suspitsin, Eugenia A. Isupova, Ekaterina V. Gaidar, Tatyana V. Gabrusskaya, Maria A. Kaneva, Ludmila S. Snegireva, Tatyana S. Likhacheva, Rimma S. Miulkidzhan, Artem V. Kosmin, Anastasia V. Tumakova, Vera V. Masalova, Margarita F. Dubko, Olga V. Kalashnikova, Ivona Aksentijevich, Vyacheslav G. Chasnyk
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
JAK-inhibitors are small molecules blocking the JAK-STAT pathway that have proven effective in the treatment of different immune-mediated diseases in adults and juvenile idiopathic arthritis (JIA).Aim of StudyTo evaluate the safety and efficacy of to
Externí odkaz:
https://doaj.org/article/aded78adcbc7404cb5212eaae0355b11
Autor:
Anastasia V. Tumakova, Ilya V. Bizin, Maria A. Makhova, Lidiya V. Lyazina, Marina N Guseva, Evgeny N. Suspitsin, Mikhail Kostik, Irina Kondratenko, Olga P. Kozlova, Tatiana V. Gabrusskaya, Svetlana S. Vahliarskaya, Anastasia S. Levina, M. Dubko, Olga V. Goleva, Liliya V. Ditkovskaya, Evgeny N. Imyanitov, Nataliya V. Skripchenko, Anna P. Sokolenko, Natalia E. Sokolova
Publikováno v:
Clinical geneticsREFERENCES. 98(3)
Primary immune deficiencies are usually attributed to genetic defects and, therefore, frequently referred to as inborn errors of immunity (IEI). We subjected the genomic DNA of 333 patients with clinical signs of IEI to next generation sequencing (NG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5285a98b332619f8d4355dd1448c9bba
https://pubmed.ncbi.nlm.nih.gov/32441320
https://pubmed.ncbi.nlm.nih.gov/32441320
Autor:
Igor E. Orlov, Tatiana A. Laidus, Anastasia V. Tumakova, Grigoriy A. Yanus, Aglaya G. Iyevleva, Anna P. Sokolenko, Ilya V. Bizin, Evgeny N. Imyanitov, Evgeny N. Suspitsin
Publikováno v:
European Journal of Medical Genetics. 65:104426
Whole exome sequencing (WES) is a powerful tool for the cataloguing of population-specific genetic diseases. Within this proof-of-concept study we evaluated whether analysis of a small number of individual exomes is capable of identifying recurrent p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9b13324f8eee264c4478016bc57e61d
https://doi.org/10.1016/j.ejmg.2022.104426
https://doi.org/10.1016/j.ejmg.2022.104426
Autor:
Anastasia V. Tumakova, Svetlana S. Vakhlyarskaya, Anna P. Sokolenko, Irina Kondratenko, Ilya V. Bizin, Natalia E. Sokolova, Evgeny N. Imyanitov, Marina N Guseva, Evgeny N. Suspitsin
Publikováno v:
European Journal of Medical Genetics. 63:103630
Ataxia-telangiectasia (AT) is a severe autosomal recessive orphan disease characterized by a number of peculiar clinical manifestations. Genetic diagnosis of AT is complicated due to a large size of the causative gene, ATM. We used next-generation se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::986d0a94cbb4377409abe29545e3ee1a
https://doi.org/10.1016/j.ejmg.2019.02.003
https://doi.org/10.1016/j.ejmg.2019.02.003
Autor:
Raupov, Rinat K., Suspitsin, Evgeny N., Kalashnikova, Elvira M., Sorokina, Lubov S., Burtseva, Tatiana E., Argunova, Vera M., Mulkidzhan, Rimma S., Tumakova, Anastasia V., Kostik, Mikhail M.
Publikováno v:
Biomedicines; Jun2024, Vol. 12 Issue 6, p1244, 11p
Publikováno v:
Genomics & Genetics Weekly; 7/12/2024, p1683-1683, 1p
Autor:
Suspitsin, Evgeny N., Guseva, Marina N., Kostik, Mikhail M., Sokolenko, Anna P., Skripchenko, Nataliya V., Levina, Anastasia S., Goleva, Olga V., Dubko, Margarita F., Tumakova, Anastasia V., Makhova, Maria A., Lyazina, Lidiya V., Bizin, Ilya V., Sokolova, Natalia E., Gabrusskaya, Tatiana V., Ditkovskaya, Liliya V., Kozlova, Olga P., Vahliarskaya, Svetlana S., Kondratenko, Irina V., Imyanitov, Evgeny N.
Publikováno v:
Clinical Genetics; Sep2020, Vol. 98 Issue 3, p231-239, 9p