Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Olga P. Skirko"'
Autor:
Alexey N. Meshkov, Roman P. Myasnikov, Anna V. Kiseleva, Olga V. Kulikova, Evgeniia A. Sotnikova, Maria M. Kudryavtseva, Anastasia A. Zharikova, Sergey N. Koretskiy, Elena A. Mershina, Vasily E. Ramensky, Marija Zaicenoka, Yuri V. Vyatkin, Maria S. Kharlap, Tatiana G. Nikityuk, Valentin E. Sinitsyn, Mikhail G. Divashuk, Vladimir A. Kutsenko, Elena N. Basargina, Vladimir I. Barskiy, Nataliya A. Sdvigova, Olga P. Skirko, Irina A. Efimova, Maria S. Pokrovskaya, Oxana M. Drapkina
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
BackgroundLeft ventricular noncompaction (LVNC) cardiomyopathy is a disorder that can be complicated by heart failure, arrhythmias, thromboembolism, and sudden cardiac death. The aim of this study is to clarify the genetic landscape of LVNC in a larg
Externí odkaz:
https://doaj.org/article/61d78b7b95c7462a967d6fde37b4102a
Autor:
Vasily E. Ramensky, Alexandra I. Ershova, Marija Zaicenoka, Anna V. Kiseleva, Anastasia A. Zharikova, Yuri V. Vyatkin, Evgeniia A. Sotnikova, Irina A. Efimova, Mikhail G. Divashuk, Olga V. Kurilova, Olga P. Skirko, Galina A. Muromtseva, Olga A. Belova, Svetlana A. Rachkova, Maria S. Pokrovskaya, Svetlana A. Shalnova, Alexey N. Meshkov, Oxana M. Drapkina
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
We performed a targeted sequencing of 242 clinically important genes mostly associated with cardiovascular diseases in a representative population sample of 1,658 individuals from the Ivanovo region northeast of Moscow. Approximately 11% of 11,876 de
Externí odkaz:
https://doaj.org/article/aa7bf729e49a4e249249cfb790f6db90
Autor:
Evgeniia A. Sotnikova, Anna V. Kiseleva, Vladimir A. Kutsenko, Anastasia A. Zharikova, Vasily E. Ramensky, Mikhail G. Divashuk, Yuri V. Vyatkin, Marina V. Klimushina, Alexandra I. Ershova, Karina Z. Revazyan, Olga P. Skirko, Marija Zaicenoka, Irina A. Efimova, Maria S. Pokrovskaya, Oksana V. Kopylova, Anush M. Glechan, Svetlana A. Shalnova, Alexey N. Meshkov, Oxana M. Drapkina
Publikováno v:
Journal of Personalized Medicine; Volume 12; Issue 7; Pages: 1132
Cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss are among the most common autosomal recessive diseases, which require carrier screening. The evaluation of population allele frequencies (AF) of pathogen
Autor:
Mikhail G. Divashuk, M. V. Klimushina, Olga P Skirko, Evgeniia Sotnikova, Olga V. Kurilova, A. I. Ershova, Svetlana A. Shalnova, Irina A. Efimova, Oxana Drapkina, Alexey N Meshkov, P. A. Slominsky, E. Yu. Khlebus, A. V. Kiseleva
Publikováno v:
Molecular Genetics, Microbiology and Virology. 36:92-99
The aim of the study was to develop a panel for detecting heterozygous carriage of frequent mutations associated with phenylketonuria (PKU), and to determine their allelic frequencies in one of the regions of Russia. PKU is one of the most common mon
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
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
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
Autor:
A N Meshkov, Olga P Skirko, Elena Yarovaya, Alexander Y Kots, A. I. Ershova, O. M. Drapkina, Vladimir A. Kutsenko, M. V. Klimushina, Victoria A. Metelskaya, Nadezhda G. Gumanova, A. V. Kiseleva, Stepan A. Smetnev
Publikováno v:
Biomolecules
Biomolecules, Vol 9, Iss 10, p 537 (2019)
Volume 9
Issue 10
Biomolecules, Vol 9, Iss 10, p 537 (2019)
Volume 9
Issue 10
Adiponectin is encoded by the ADIPOQ gene and participates in the pathogenesis of cardiovascular and metabolic diseases. The goal of the study was to assess associations of rs17300539, rs266729, rs182052, rs2241766, and rs17366743 single nucleotide p
Autor:
Victoria A. Metelskaya, Olga P Skirko, Stepan A. Smetnev, Nadezhda G. Gumanova, Artem S Shanoyan, A. V. Kiseleva, Alexey N Meshkov, Alexander Y Kots, M. V. Klimushina
Publikováno v:
Biomedical Reports
Adiponectin, endothelin and nitric oxide (NO) are major regulators of vascular function. An imbalance of vasoactive factors contributes to the onset and progression of atherosclerosis. Various single nucleotide polymorphisms (SNPs) are considered to
Autor:
Maria S. Pokrovskaya, Evgeniia Sotnikova, A. I. Ershova, A. V. Kiseleva, Eleonora Khlebus, Svetlana A. Shalnova, Irina A. Efimova, Petr Slominsky, Olga V. Kurilova, Oxana Drapkina, M. V. Klimushina, Anastasia Zharikova, Olga P Skirko, Alexey N Meshkov, Mikhail G. Divashuk
Publikováno v:
Journal of Personalized Medicine, Vol 10, Iss 140, p 140 (2020)
Journal of Personalized Medicine
Volume 10
Issue 3
Journal of Personalized Medicine
Volume 10
Issue 3
Genetic screening is an advanced tool for reducing recessive disease burden. Nowadays, it is still unclear as to the number of genes or their variants that are necessary for effective screening. This paper describes the development of a carrier scree