Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Anastasia Zharikova"'
Autor:
Anna Bukaeva, Roman Myasnikov, Olga Kulikova, Alexey Meshkov, Anna Kiseleva, Anna Petukhova, Evgenia Zotova, Peter Sparber, Alexandra Ershova, Evgeniia Sotnikova, Maria Kudryavtseva, Anastasia Zharikova, Sergey Koretskiy, Elena Mershina, Vasily Ramensky, Marija Zaicenoka, Yuri Vyatkin, Alisa Muraveva, Alexandra Abisheva, Tatiana Nikityuk, Valentin Sinitsyn, Mikhail Divashuk, Elena Dadali, Maria Pokrovskaya, Oxana Drapkina
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 14, p 7556 (2024)
A genetic diagnosis of primary cardiomyopathies can be a long-unmet need in patients with complex phenotypes. We investigated a three-generation family with cardiomyopathy and various extracardiac abnormalities that had long sought a precise diagnosi
Externí odkaz:
https://doaj.org/article/e5f8369f251a415b864ae0aeb61178b7
Autor:
Roman Myasnikov, Andreas Brodehl, Alexey Meshkov, Olga Kulikova, Anna Kiseleva, Greta Marie Pohl, Evgeniia Sotnikova, Mikhail Divashuk, Marina Klimushina, Anastasia Zharikova, Maria Pokrovskaya, Sergey Koretskiy, Maria Kharlap, Elena Mershina, Valentin Sinitsyn, Elena Basargina, Leila Gandaeva, Vladimir Barskiy, Sergey Boytsov, Hendrik Milting, Oxana Drapkina
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 13, p 6775 (2021)
Left ventricular non-compaction cardiomyopathy (LVNC) is a rare heart disease, with or without left ventricular dysfunction, which is characterized by a two-layer structure of the myocardium and an increased number of trabeculae. The study of familia
Externí odkaz:
https://doaj.org/article/ff8525b1671749978725bafb8dee2dce
Autor:
Andreas Brodehl, Alexey Meshkov, Roman Myasnikov, Anna Kiseleva, Olga Kulikova, Bärbel Klauke, Evgeniia Sotnikova, Caroline Stanasiuk, Mikhail Divashuk, Greta Marie Pohl, Maria Kudryavtseva, Karin Klingel, Brenda Gerull, Anastasia Zharikova, Jan Gummert, Sergey Koretskiy, Stephan Schubert, Elena Mershina, Anna Gärtner, Polina Pilus, Kai Thorsten Laser, Valentin Sinitsyn, Sergey Boytsov, Oxana Drapkina, Hendrik Milting
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 7, p 3786 (2021)
About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely pathogenic mutation in the desmosomal genes. However, there is a significant number of patients without positive familial anamnesis. Therefore, the molecular
Externí odkaz:
https://doaj.org/article/970dc997e2ef4c3099f68c5c23e3e5d6
Publikováno v:
Biophysical Reviews. 14:1161-1182
A significant fraction of mutations in proteins are deleterious and result in adverse consequences for protein function, stability, or interaction with other molecules. Intragenic compensation is a specific case of positive epistasis when a neutral m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d26bb325611665ae50b75dfe9ad58e78
https://doi.org/10.1007/s12551-022-01005-w
https://doi.org/10.1007/s12551-022-01005-w
Autor:
A. V. Kiseleva, Petr Slominsky, Olga V. Kurilova, Alexey N Meshkov, Irina A. Efimova, Eleonora Khlebus, Svetlana A. Shalnova, A. I. Ershova, Olga P Skirko, M. V. Klimushina, Mikhail G. Divashuk, Oxana Drapkina, Anastasia Zharikova, Evgeniia Sotnikova, Maria S. Pokrovskaya
Publikováno v:
Pharmacogenomics and Personalized Medicine. 13:679-686
Purpose Cystic fibrosis (CF) is one of the most common monogenic diseases with an autosomal recessive inheritance. Carrier screening leads to a reduction in the number of children born with CF disease. The aim of this study was to develop the custom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9e4d235057f7734ea06b204cf7a49944
https://doi.org/10.2147/pgpm.s278806
https://doi.org/10.2147/pgpm.s278806
Autor:
M. S. Kharlap, R. P. Myasnikov, S. N. Koretskiy, Anastasia Zharikova, S. E. Serduk, Elena Mershina, A. O. Shumarina, Valentin Sinitsyn, O. M. Drapkina, Mikhail G. Divashuk, Alexey N Meshkov, A. V. Kiseleva, O. V. Kulikova, Sergey Boytsov
Publikováno v:
Rational Pharmacotherapy in Cardiology. 16:383-391
Left ventricular non-compaction (LVNC) is a genetically determined cardiomyopathy characterized by different variants of the clinical course. LVNC family cases allow to study in more details the role of genetic factors in cardiomyopathy pathogenesis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61a5148ec7e5d56a794cd57fa1c487a9
https://doi.org/10.20996/1819-6446-2020-06-01
https://doi.org/10.20996/1819-6446-2020-06-01
Autor:
Omar L. Kantidze, Sergey V. Ulianov, Anastasia Zharikova, Mikhail D. Magnitov, Aleksandra A. Galitsyna, Andrey A. Mironov, Artem V. Luzhin, Maria D. Logacheva, Sergey V. Razin, Alexey A. Gavrilov, Natalia M Rubanova, Nadezhda V. Petrova, Arkadiy K. Golov
Publikováno v:
Nucleic Acids Research
Non-coding RNAs (ncRNAs) participate in various biological processes, including regulating transcription and sustaining genome 3D organization. Here, we present a method termed Red-C that exploits proximity ligation to identify contacts with the geno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb68e52944f3910d0656338c74886b99
https://doi.org/10.1093/nar/gkaa457
https://doi.org/10.1093/nar/gkaa457
Autor:
Vladimir Barskiy, Valentin Sinitsyn, Mikhail G. Divashuk, Evgeniia Sotnikova, Alexey N Meshkov, O. V. Kulikova, Greta Marie Pohl, Hendrik Milting, Sergey Koretskiy, Elena Mershina, A. V. Kiseleva, Maria S. Pokrovskaya, M. V. Klimushina, Sergey Boytsov, Andreas Brodehl, M. S. Kharlap, R. P. Myasnikov, Anastasia Zharikova, Oxana Drapkina, E. N. Basargina, L. A. Gandaeva
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 6775, p 6775 (2021)
International Journal of Molecular Sciences
International Journal of Molecular Sciences
Left ventricular non-compaction cardiomyopathy (LVNC) is a rare heart disease, with or without left ventricular dysfunction, which is characterized by a two-layer structure of the myocardium and an increased number of trabeculae. The study of familia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::639633d8a0705d811030695fb0d90d12
https://www.mdpi.com/1422-0067/22/13/6775
https://www.mdpi.com/1422-0067/22/13/6775
Autor:
M S Pokrovskaya, Valentin Sinitsyn, Oxana Drapkina, A. V. Kiseleva, Anastasia Zharikova, Alexey N Meshkov, M. S. Kharlap, R. P. Myasnikov, O. V. Kulikova, S. N. Koretsky, Olga P Skirko, I. A. Efimova, Sergey Boytsov, Elena Mershina
Publikováno v:
Racionalʹnaâ Farmakoterapiâ v Kardiologii, Vol 15, Iss 4, Pp 524-529 (2019)
The clinical, instrumental and molecular-genetic studies for proband and family members for identification of family form of left ventricular noncompaction cardiomyopathy (LVNC) presented in the article. According to the results of the examination, t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef1fbbe6ed65ffe2735985a485fd4cb3
https://doi.org/10.20996/1819-6446-2019-15-4-524-529
https://doi.org/10.20996/1819-6446-2019-15-4-524-529
Autor:
Ekaterina A. Snigir, Olga V. Kurilova, Olga P Skirko, A. V. Kiseleva, Malyshev Pp, A.D. Blokhina, Alexey N Meshkov, Rozhkova Ta, Vasily E. Ramensky, Alexsandra Akinshina, Daria A. Kashtanova, Anna Bukaeva, V V Kukharchuk, Valeriya Mikova, Mikhail G. Divashuk, Maria S. Pokrovskaya, Alena Limonova, A. I. Ershova, Zukhra Khasanova, Oxana Drapkina, Anna Petukhova, Evgeniia Sotnikova, Sergey Boytsov, Evgenia Zotova, Sergey I Mitrofanov, Valentin V. Makarov, Anastasia Zharikova, Sergey Yudin
Publikováno v:
Genes
Volume 12
Issue 1
Genes, Vol 12, Iss 66, p 66 (2021)
Volume 12
Issue 1
Genes, Vol 12, Iss 66, p 66 (2021)
Familial hypercholesterolemia (FH) is a common autosomal codominant disorder, characterized by elevated low-density lipoprotein cholesterol levels causing premature atherosclerotic cardiovascular disease. About 2900 variants of LDLR, APOB, and PCSK9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::082c4a400993704b3491821615972740