Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Eugeny A. Elisaphenko"'
Autor:
Irina S. Zakharova, Alexander I. Shevchenko, Narek A. Tmoyan, Eugeny A. Elisaphenko, Ekaterina S. Zubkova, Aleksei A. Sleptcov, Maria S. Nazarenko, Marat V. Ezhov, Valery V. Kukharchuk, Yelena V. Parfyonova, Suren M. Zakian
Publikováno v:
Stem Cell Research, Vol 60, Iss , Pp 102702- (2022)
The development of cellular models for familial hypercholesterolemia (FH) is an important direction for creating new approaches to atherosclerosis treatment. Pathogenic mutations in the LDLR gene are the main FH source. We generated an iPSC line from
Externí odkaz:
https://doaj.org/article/9ce40e3c957e4fa490098316d4c73f75
Autor:
Irina S. Zakharova, Alexander I. Shevchenko, Narek A. Tmoyan, Eugeny A. Elisaphenko, Alexander P. Kalinin, Aleksei A. Sleptcov, Maria S. Nazarenko, Marat V. Ezhov, Valery V. Kukharchuk, Yelena V. Parfyonova, Suren M. Zakian
Publikováno v:
Stem Cell Research, Vol 60, Iss , Pp 102703- (2022)
Familial hypercholesterolemia (FH) is an autosomal dominant disorder increasing premature cardiovascular diseases risk due to atherosclerosis. Pathogenic mutations in the LDLR gene cause most FH cases. Available treatments are effective not for all L
Externí odkaz:
https://doaj.org/article/e73fe039606f4f28b043708a40e0e084
Autor:
Irina S. Zakharova, Alexander I. Shevchenko, Narek A. Tmoyan, Eugeny A. Elisaphenko, Ekaterina S. Zubkova, Aleksei A. Sleptcov, Maria S. Nazarenko, Marat V. Ezhov, Valery V. Kukharchuk, Yelena V. Parfyonova, Suren M. Zakian
Publikováno v:
Stem Cell Research, Vol 59, Iss , Pp 102653- (2022)
Familial hypercholesterolemia (FH) is a monogenic disease, leading to atherosclerosis due to a high level of low-density lipoprotein cholesterol. Most cases of the disease are based on pathological variants in the LDLR gene. Hepatocyte-like and endot
Externí odkaz:
https://doaj.org/article/f5e3fb638e9f4e6db50a85dd319f5d83
Autor:
Maria S. Nazarenko, Aleksei A. Sleptcov, Aleksei A. Zarubin, Ramil R. Salakhov, Alexander I. Shevchenko, Narek A. Tmoyan, Eugeny A. Elisaphenko, Ekaterina S. Zubkova, Nina V. Zheltysheva, Marat V. Ezhov, Valery V. Kukharchuk, Yelena V. Parfyonova, Suren M. Zakian, Irina S. Zakharova
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 5, p 4471 (2023)
The LDLR locus has clinical significance for lipid metabolism, Mendelian familial hypercholesterolemia (FH), and common lipid metabolism-related diseases (coronary artery disease and Alzheimer’s disease), but its intronic and structural variants ar
Externí odkaz:
https://doaj.org/article/76a44709a6c6408fb24208c4eaacb4dc
Autor:
Tatyana V. Karamysheva, Tatyana A. Gayner, Eugeny A. Elisaphenko, Vladimir A. Trifonov, Elvira G. Zakirova, Konstantin E. Orishchenko, Mariya A. Prokhorovich, Maria E. Lopatkina, Nikolay A. Skryabin, Igor N. Lebedev, Nikolay B. Rubtsov
Publikováno v:
Biomedicines, Vol 10, Iss 12, p 3255 (2022)
Detection and precise genomic mapping of balanced chromosomal abnormalities in patients with impaired fertility or a clinical phenotype represent a challenge for current cytogenomics owing to difficulties with precise breakpoint localization in the r
Externí odkaz:
https://doaj.org/article/4ab33a10696a4c2fab8f87b1b0f92652
Autor:
Igor N. Lebedev, Tatyana V. Karamysheva, Eugeny A. Elisaphenko, Alexey I. Makunin, Daria I. Zhigalina, Maria E. Lopatkina, Gleb V. Drozdov, Aleksander D. Cheremnykh, Natalia B. Torkhova, Gulnara N. Seitova, Stanislav A. Vasilyev, Anna A. Kashevarova, Ludmila P. Nazarenko, Nikolay B. Rubtsov
Publikováno v:
Biomedicines, Vol 9, Iss 8, p 1030 (2021)
Interpreting the clinical significance of small supernumerary marker chromosomes (sSMCs) in prenatal diagnosis is still an urgent problem in genetic counselling regarding the fate of a pregnancy. We present a case of prenatal diagnosis of mosaic sSMC
Externí odkaz:
https://doaj.org/article/fc2a27e1d0084a8dabf6292e7be10799
Publikováno v:
Almanac of Clinical Medicine. 49:385-395
Rationale: The development of eukaryote genome engineering tools based on CRISPR-Cas programmable bacterial nucleases systems opens wide horizons for gene therapies, human disease cell modeling, as well as investigation into manifestation of disease
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa961d290e53fe256bc4451bd0271b64
https://doi.org/10.18786/2072-0505-2021-49-037
https://doi.org/10.18786/2072-0505-2021-49-037
Publikováno v:
KnE Life Sciences.
Antisense transcription is an important mechanism of gene expression regulation. Antisense RNAs play a role in mRNA processing, translation and epigenetic modifications of DNA and histones in the locus of their origin, leading to gene silencing. HTT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::90fd9b34cb7b931458d6caacb8b7f102
https://doi.org/10.18502/kls.v7i1.10149
https://doi.org/10.18502/kls.v7i1.10149
Autor:
Irina S. Zakharova, Alexander I. Shevchenko, Narek A. Tmoyan, Eugeny A. Elisaphenko, Ekaterina S. Zubkova, Aleksei A. Sleptcov, Maria S. Nazarenko, Marat V. Ezhov, Valery V. Kukharchuk, Yelena V. Parfyonova, Suren M. Zakian
Publikováno v:
Stem Cell Research, Vol 60, Iss, Pp 102702-(2022)
The development of cellular models for familial hypercholesterolemia (FH) is an important direction for creating new approaches to atherosclerosis treatment. Pathogenic mutations in the LDLR gene are the main FH source. We generated an iPSC line from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97b596afd03d8117b820415e5c2af67d
https://pubmed.ncbi.nlm.nih.gov/35152178
https://pubmed.ncbi.nlm.nih.gov/35152178
Autor:
Tatyana V. Karamysheva, Aleksander D. Cheremnykh, Gleb V. Drozdov, Alexey I. Makunin, Eugeny A. Elisaphenko, S. A. Vasilyev, Gulnara N. Seitova, Maria E. Lopatkina, Nikolay B. Rubtsov, Nazarenko Lp, Natalia B. Torkhova, Daria I. Zhigalina, A. A. Kashevarova, I. N. Lebedev
Publikováno v:
Biomedicines, Vol 9, Iss 1030, p 1030 (2021)
Biomedicines
Biomedicines; Volume 9; Issue 8; Pages: 1030
Biomedicines
Biomedicines; Volume 9; Issue 8; Pages: 1030
Interpreting the clinical significance of small supernumerary marker chromosomes (sSMCs) in prenatal diagnosis is still an urgent problem in genetic counselling regarding the fate of a pregnancy. We present a case of prenatal diagnosis of mosaic sSMC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d6988a70db42720dc44d36ebcea1c4c
https://www.mdpi.com/2227-9059/9/8/1030
https://www.mdpi.com/2227-9059/9/8/1030