Zobrazeno 1 - 10
of 73
pro vyhledávání: '"S V, Mikhailova"'
Autor:
S. V. Mikhailova
Publikováno v:
Вавиловский журнал генетики и селекции, Vol 27, Iss 6, Pp 684-693 (2023)
The review describes the main methods for assessing directional selection in human populations. These include bioinformatic analysis of DNA sequences via detection of linkage disequilibrium and of deviations from the random distribution of frequencie
Externí odkaz:
https://doaj.org/article/b5ed370901f945cbabe62144886ab1dc
Autor:
S. V. Mikhailova, D. E. Ivanoshchuk, P. S. Orlov, L. D. Latyntseva, E. V. Kashtanova, Ya. V. Polonskaya, Yu. I. Ragino, E. V. Shakhtshneider
Publikováno v:
Сибирский научный медицинский журнал, Vol 43, Iss 4, Pp 97-109 (2023)
Understanding the molecular mechanisms of atherosclerotic vascular lesions formation is necessary both for assessing the risks of cardiovascular diseases and for finding approaches to their therapy. The task remains relevant, despite the large number
Externí odkaz:
https://doaj.org/article/be3a3dc8ca524b2d87b367c32de1539d
Autor:
T. A. Gremyakova, S. V. Artemyeva, N. D. Vashakmadze, I. P. Vitkovskaya, V. I. Guzeva, O. V. Guzeva, L. M. Kuzenkova, S. V. Mikhailova, L. P. Nazarenko, T. M. Pervunina, N. L. Pechatnikova, T. V. Podkletnova, G. E. Sakbaeva, A. A. Stepanov, V. M. Suslov, O. I. Gremyakova, N. I. Shakhovskaya, S. S. Nikitin
Publikováno v:
Нервно-мышечные болезни, Vol 12, Iss 2, Pp 10-18 (2022)
Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disease due to a mutation in the gene encoding dystrophin synthesis. In patients, muscle damage and atrophy progresses, the ability to move independently decreases as well as respiratory and
Externí odkaz:
https://doaj.org/article/2d5cb1f3844a45cb95295db2a3337785
Autor:
E. Yu. Zakharova, S. V. Mikhailova, V. V. Zarubina, N. A. Krasnoshchekova, N. L. Pechatnikova, V. P. Vorontsova, D. I. Gribov, M. V. Zazivihina, А. N. Slatetskaya, M. V. Kurkina, P. V. Baranova, L. P. Nazarenko, S. А. Repina, L. R. Selimsyanova, N. D. Vashakmadse, T. V. Bushueva
Publikováno v:
Нервно-мышечные болезни, Vol 11, Iss 4, Pp 12-25 (2021)
Treatment of many of the diseases in the panel of expanded newborn screening includes dietary therapy. Glutaric aciduria type 1 (GA1) is a hereditary disorder caused by mutations in the gene GCDH, encoding glutaryl‑CoA dehydrogenase, an enzyme in t
Externí odkaz:
https://doaj.org/article/75dd2591077642beb4663d43ddbd4823
Autor:
S. V. Mikhailova, E. V. Saifullina, P. V. Baranova, V. P. Vorontsova, D. I. Gribov, M. V. Zhivihina, A. N. Slatetskaya, R. V. Magzhanov, V. A. Samokhvalov, M. N. Virtseva, L. P. Borscheva, E. E. Koh, M. V. Novikova, A. V. Abrukova, E. Yu. Belyashova, N. Yu. Gerasimenko, L. V. Guseva, Zh. V. Yukhimenko, N. V. Nikitina, T. I. Belyaeva, T. A. Shkurko, N. A. Pichkur, V. S. Kakaulina, N. L. Pechatnikova, N . A. Polyakova, S. A. Korostelev, D. V. Pyankov, I. V. Kanivets, N. A. Demina, E. Yu. Pyrkova, G. V. Baidakova, M. V. Kurkina, E. Yu. Zakharova
Publikováno v:
Нервно-мышечные болезни, Vol 11, Iss 2, Pp 61-79 (2021)
Background. Glutaric aciduria type 1 is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes the enzyme glutaryl‑CoA dehydrogenase. Metabolic crisis in type 1 glutaric aciduria is an acute life‑threatening condition
Externí odkaz:
https://doaj.org/article/7260ea8a4de74abc9f7f0ad19298c84e
Publikováno v:
Вавиловский журнал генетики и селекции, Vol 25, Iss 3, Pp 301-309 (2021)
The innate Iнн\mmune system is the first to respond to invading pathogens. It is responsible for invader recognition, immune-cell recruitment, adaptive-immunity activation, and regulation of inflammation intensity. Previously, two single-nucleotide
Externí odkaz:
https://doaj.org/article/0198774aa51d44c7b53459bebeb888c1
Autor:
D. E. Ivanoshchuk, S. V. Mikhailova, O. G. Fenkova, E. V. Shakhtshneider, A. Z. Fursova, I. V. Bychkov, M. I. Voevoda
Publikováno v:
Вавиловский журнал генетики и селекции, Vol 24, Iss 8, Pp 861-867 (2020)
Primary congenital glaucoma (PСG) is a visual organ pathology that leads to progressive blindness and poor vision in children. Its main cause is an anomaly of the anterior chamber angle. Most cases of PСG are sporadic, but familial cases with an au
Externí odkaz:
https://doaj.org/article/dcf618ea9be5493a9bb9c336173aefee
Publikováno v:
Атеросклероз, Vol 16, Iss 3, Pp 53-60 (2020)
Atherosclerosis is main cause of cardiovascular disease leading to disability and death worldwide. Many factors can affect atherogenesis, including hypertension, smoking, diabetes mellitus and inflammatory processes. It is known that disorders of cho
Externí odkaz:
https://doaj.org/article/500b0db8633149a19c8f6cab0d6dc095
Autor:
D. E. Ivanoshchuk, E. V. Shakhtshneider, A. K. Ovsyannikova, S. V. Mikhailova, O. D. Rymar, V. I. Oblaukhova, A. A. Yurchenko, M. I. Voevoda
Publikováno v:
Вавиловский журнал генетики и селекции, Vol 24, Iss 3, Pp 299-305 (2020)
The article presents a variant of maturity onset diabetes of the young type 2, caused by a rare mutation in the GCK gene. Maturity onset diabetes of the young (MODY) is a hereditary form of diabetes with an autosomal dominant type of inheritance, an
Externí odkaz:
https://doaj.org/article/c6bcdca5afb44ae4a4ad31dd0a5f3693
Autor:
S. V. Mikhailova, D. E. Ivanoshchuk, N. S. Shirokova, P. S. Orlov, A. Bairqdar, E. V. Shachtshneider
Publikováno v:
Ateroscleroz. 19:6-18
Hyperlipidemia is one of the most common metabolic disorders in humans, leading to the atheros clerosis. It is known that lipid metabolism disorders can be associated with genetic predisposition. However, even in patients with clinically confirmed fa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1fef6fb7e410c3205eb06850c68e0a3c
https://doi.org/10.52727/2078-256x-2023-19-1-6-18
https://doi.org/10.52727/2078-256x-2023-19-1-6-18