Zobrazeno 1 - 10
of 241
pro vyhledávání: '"Anna Kostareva"'
Autor:
Anna Zlotina, Svetlana Barashkova, Sergey Zhuk, Rostislav Skitchenko, Dmitrii Usoltsev, Polina Sokolnikova, Mykyta Artomov, Svetlana Alekseenko, Tatiana Simanova, Maria Goloborodko, Olga Berleva, Anna Kostareva
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-23 (2024)
Abstract Background Primary ciliary dyskinesia (PCD) is a group of rare genetically heterogeneous disorders caused by defective cilia and flagella motility. The clinical phenotype of PCD patients commonly includes chronic oto-sino-pulmonary disease,
Externí odkaz:
https://doaj.org/article/2a3baef4f04b48188f2cdc8384e1369f
Autor:
Dmitrii Usoltsev, Nikita Kolosov, Oxana Rotar, Alexander Loboda, Maria Boyarinova, Ekaterina Moguchaya, Ekaterina Kolesova, Anastasia Erina, Kristina Tolkunova, Valeriia Rezapova, Ivan Molotkov, Olesya Melnik, Olga Freylikhman, Nadezhda Paskar, Asiiat Alieva, Elena Baranova, Elena Bazhenova, Olga Beliaeva, Elena Vasilyeva, Sofia Kibkalo, Rostislav Skitchenko, Alina Babenko, Alexey Sergushichev, Alena Dushina, Ekaterina Lopina, Irina Basyrova, Roman Libis, Dmitrii Duplyakov, Natalya Cherepanova, Kati Donner, Paivi Laiho, Anna Kostareva, Alexandra Konradi, Evgeny Shlyakhto, Aarno Palotie, Mark J. Daly, Mykyta Artomov
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-10 (2024)
Abstract The population of Russia consists of more than 150 local ethnicities. The ethnic diversity and geographic origins, which extend from eastern Europe to Asia, make the population uniquely positioned to investigate the shared properties of inhe
Externí odkaz:
https://doaj.org/article/5db0f79709df484e81724be4b4650737
Autor:
Olga Lesnyak, Francesca Marini, Polina Sokolnikova, Margarita Sorokina, Kseniya Sukhareva, Irina Artamonova, Vladimir Kenis, Olga Tkach, Anna Kostareva, Maria Luisa Brandi
Publikováno v:
Bone Reports, Vol 21, Iss , Pp 101777- (2024)
We report a case of a patient with a de novo germline heterozygous truncating variant of CTNNB1 gene (c.2172del, p.Tyr724Ter) causing neurodevelopmental disorder with spastic diplegia and visual defects syndrome (NEDSDV) associated with a new clinica
Externí odkaz:
https://doaj.org/article/0d254560ddb448c189ae537ba88345dc
Septal Myectomy in Patients with Hypertrophic Cardiomyopathy and Nonclassical Anderson–Fabry Disease
Autor:
Alexandr Gurschenkov, Sofiya Andreeva, Vadim Zaitsev, Pavel Khazov, Gleb Ischmukhametov, Alexandra Kozyreva, Polina Sokolnikova, Olga Moiseeva, Anna Kostareva, Mikhail Gordeev
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 11, Iss 9, p 293 (2024)
Anderson–Fabry disease (AFD) results from decreased enzyme activity of lysosomal enzymes and intralysosomal storage of nonhydrolyzed forms. Cardiovascular complications, mainly in the form of HCM, contribute substantially to AFD patient mortality.
Externí odkaz:
https://doaj.org/article/ddf9d1531bb841cbae5f2629969041b2
Autor:
Olga Irtyuga, Rostislav Skitchenko, Mary Babakekhyan, Dmitrii Usoltsev, Svetlana Tarnovskaya, Anna Malashicheva, Yulya Fomicheva, Oksana Rotar, Olga Moiseeva, Ulyana Shadrina, Mykyta Artomov, Anna Kostareva, Evgeny Shlyakhto
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 11, Iss 7, p 226 (2024)
The NOTCH-signaling pathway is responsible for intercellular interactions and cell fate commitment. Recently, NOTCH pathway genes were demonstrated to play an important role in aortic valve development, leading to an increased calcified aortic valve
Externí odkaz:
https://doaj.org/article/b89ce7650fec449387d763d812ff3905
Autor:
Kristina Tolkunova, Dmitrii Usoltsev, Ekaterina Moguchaia, Maria Boyarinova, Ekaterina Kolesova, Anastasia Erina, Trudy Voortman, Elena Vasilyeva, Anna Kostareva, Evgeny Shlyakhto, Alexandra Konradi, Oxana Rotar, Mykyta Artomov
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-7 (2023)
Abstract Famine exposure during early life development can affect disease risk in late-life period, yet, transmission of phenotypic features from famine-exposed individuals to the next generations has not been well characterized. The purpose of our c
Externí odkaz:
https://doaj.org/article/03b5aadf56ff4515a51dd6d38cdcd44c
Autor:
Tatiana Petrova, Olga Kalinina, Arthur Aquino, Evgeniy Grigoryev, Natallia V. Dubashynskaya, Kseniya Zubkova, Anna Kostareva, Alexey Golovkin
Publikováno v:
Non-Coding RNA, Vol 10, Iss 1, p 15 (2024)
There are many articles on the quantitative analysis of miRNAs contained in a population of EVs of different sizes under various physiological and pathological conditions. For such analysis, it is important to correctly quantify the miRNA contents of
Externí odkaz:
https://doaj.org/article/b73b82251e2d45f6b507ad65a21fd076
Autor:
Olga Kofeynikova, Daria Alekseeva, Tatiana Vershinina, Svetlana Fetisova, Olga Peregudina, Tatiana Kovalchuk, Elena Yakovleva, Polina Sokolnikova, Alexandra Klyushina, Kseniia Chueva, Anna Kostareva, Tatiana Pervunina, Elena Vasichkina
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
IntroductionThe present study aimed to describe the phenotypic features and genetic spectrum of arrhythmogenic cardiomyopathy (ACM) presented in childhood and test the validity of different diagnostic approaches using Task Force Criteria 2010 (TFC) a
Externí odkaz:
https://doaj.org/article/1655c203a98949849ab3c83f9cee4a9b
Autor:
Daria Semenova, Arsenii Zabirnyk, Arseniy Lobov, Nadezda Boyarskaya, Olga Kachanova, Vladimir Uspensky, Bozhana Zainullina, Evgeny Denisov, Tatiana Gerashchenko, John-Peder Escobar Kvitting, Mari-Liis Kaljusto, Bernd Thiede, Anna Kostareva, Kåre-Olav Stensløkken, Jarle Vaage, Anna Malashicheva
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 9 (2022)
Heart valve calcification is an active cellular and molecular process that partly remains unknown. Osteogenic differentiation of valve interstitial cells (VIC) is a central mechanism in calcific aortic valve disease (CAVD). Studying mechanisms in CAV
Externí odkaz:
https://doaj.org/article/2b37b973b0424edea6e280e52bdcc4d7
Autor:
Kseniya Perepelina, Anastasia Zaytseva, Aleksandr Khudiakov, Irina Neganova, Elena Vasichkina, Anna Malashicheva, Anna Kostareva
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 9 (2022)
Pathogenic variants in the LMNA gene are known to cause laminopathies, a broad range of disorders with different clinical phenotypes. LMNA genetic variants lead to tissue-specific pathologies affecting various tissues and organs. Common manifestation
Externí odkaz:
https://doaj.org/article/3edf762ce2d245b2b731911592edfc93