Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Elena V, Zaklyazminskaya"'
Autor:
Olga V. Kryukova, Igor O. Islanov, Elena V. Zaklyazminskaya, Dmitry O. Korostin, Vera A. Belova, Valery V. Cheranev, Zhanna A. Repinskaia, Svetlana A. Tonevitskaya, Pavel A. Petukhov, Steven M. Dudek, Olga A. Kost, Denis V. Rebrikov, Sergei M. Danilov
Publikováno v:
Biomedicines, Vol 12, Iss 10, p 2410 (2024)
Backgrounds. Our recent analysis of 1200+ existing missense ACE mutations revealed that 400+ mutations are damaging and led us to hypothesize that carriers of heterozygous loss-of-function (LoF) ACE mutations (which result in low ACE levels) could be
Externí odkaz:
https://doaj.org/article/fec2d51505614ad39c00be20888d461e
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
Abstract Background Inherited deficiency of the antithrombin (hereditary antithrombin deficiency, AT deficiency, OMIM #613118) is a relatively rare (1:2000–3000) autosomal-dominant disorder with high risk of venous thromboembolism. Mutations in the
Externí odkaz:
https://doaj.org/article/da72a02d26ee4da19edf87a0f6ed54a9
Autor:
Anna G. Shestak, Leonid M. Makarov, Vera N. Komoliatova, Irina V. Kolesnikova, Liubov O. Skorodumova, Edward V. Generozov, Elena V. Zaklyazminskaya
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Primary cardiac channelopathies are a group of diseases wherein the role of DNA testing in aiding diagnosis and treatment-based decision-making is gaining increasing attention. However, in some cases, evaluating the pathogenicity of new variants is s
Externí odkaz:
https://doaj.org/article/2fb30d7d50594ce7800b07e73efb9f9a
Publikováno v:
Frontiers in Physiology, Vol 12 (2021)
Externí odkaz:
https://doaj.org/article/97d92d4cc3d1498aac1cebaa106ccc48
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Primary cardiomyopathies (CMPs) are monogenic but multi-allelic disorders with dozens of genes involved in pathogenesis. The implementation of next-generation sequencing (NGS) approaches has resulted in more time- and cost-efficient DNA diagnostics o
Externí odkaz:
https://doaj.org/article/5f94ddc6645a4c35bb89dda3f856cd70
Autor:
Olga Blagova, Indira Alieva, Eugenia Kogan, Alexander Zaytsev, Vsevolod Sedov, S. Chernyavskiy, Yulia Surikova, Ilya Kotov, Elena V. Zaklyazminskaya
Publikováno v:
Frontiers in Pharmacology, Vol 11 (2020)
Hypertrophic cardiomyopathy (HCM) is the most common inherited disease, with a prevalence of 1:200 worldwide. The cause of HCM usually presents with an autosomal dominant mutation in the genes encoding one of more than 20 sarcomeric proteins, incompl
Externí odkaz:
https://doaj.org/article/ca6f0dd9e93c4460a8e8a844d864a906
Autor:
Andrey K. Tsaturyan, Elena V. Zaklyazminskaya, Margarita E. Polyak, Galina V. Kopylova, Daniil V. Shchepkin, Anastasia M. Kochurova, Anastasiia D. Gonchar, Sergey Y. Kleymenov, Natalia A. Koubasova, Sergey Y. Bershitsky, Alexander M. Matyushenko, Dmitrii I. Levitsky
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 1; Pages: 18
Hypertrophic cardiomyopathy (HCM), caused by mutations in thin filament proteins, manifests as moderate cardiac hypertrophy and is associated with sudden cardiac death (SCD). We identified a new de novo variant, c.656A>T (p.D219V), in the TPM1 gene e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afe4d2e3cb8bb53b1fdeba5b061fffac
Autor:
Sergey L, Dzemeshkevich, Sergey V, Korolev, Vladimir V, Gramovich, Yulia V, Frolova, Alexey N, Lugovoy, Anna V, Dombrovskaya, Maxim A, Babaev, Elena V, Zaklyazminskaya
Publikováno v:
The Journal of Cardiovascular Surgery. 63
Chordal apparatus preservation is important for preserving left ventricular (LV) function in the long-term perspective. We present results of originally modified chordal-sparing mitral valve replacement (MVR) successfully used in patients with mitral
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0408427082a290de959c1ba31d0c7ad
https://doi.org/10.23736/s0021-9509.22.12065-3
https://doi.org/10.23736/s0021-9509.22.12065-3
Publikováno v:
Frontiers in Pharmacology, Vol 3 (2012)
Externí odkaz:
https://doaj.org/article/13c5eb2c135e42ffa54246126605d212