Zobrazeno 1 - 10 of 12 pro vyhledávání: '"Liubov O, Skorodumova"'
1
Akademický článek
TACSTD2 in gelatinous drop-like corneal dystrophy: variant functional analysis and expression in the cornea after limbal stem cell transplantation
Autor: Liubov O. Skorodumova, Ekaterina N. Grafskaia, Daria D. Kharlampieva, Dmitry I. Maltsev, Tatiana V. Petrova, Alexandra V. Kanygina, Elena V. Fedoseeva, Pavel V. Makarov, Boris E. Malyugin
Publikováno v: Human Genome Variation, Vol 11, Iss 1, Pp 1-7 (2024)
Abstract Gelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal recessive eye disease. GDLD is characterized by the loss of barrier function in corneal epithelial cells (CECs) and amyloid deposition due to pathogenic variants in the TACSTD
Externí odkaz: https://doaj.org/article/82e92ab73f3141678c61e3b1db5c5e92
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2
Akademický článek
Rare single nucleotide variants in COL5A1 promoter do not play a major role in keratoconus susceptibility associated with rs1536482
Autor: Liubov O. Skorodumova, Alexandra V. Belodedova, Elena I. Sharova, Elena S. Zakharova, Liliia N. Iulmetova, Mukharram M. Bikbov, Emin L. Usubov, Olga P. Antonova, Oksana V. Selezneva, Anastasia Levchenko, Olga Yu Fedorenko, Svetlana A. Ivanova, Raul R. Gainetdinov, Boris E. Malyugin
Publikováno v: BMC Ophthalmology, Vol 21, Iss 1, Pp 1-9 (2021)
Abstract Background Keratoconus is a chronic degenerative disorder of the cornea characterized by thinning and cone-shaped protrusions. Although genetic factors play a key role in keratoconus development, the etiology is still under investigation. Th
Externí odkaz: https://doaj.org/article/51a073b678084fc7bac978342a369563
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3
Akademický článek
Coexistence of Two Rare Genetic Variants in Canonical and Non-canonical Exons of SCN5A: A Potential Source of Misinterpretation
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
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5
Akademický článek
Dataset on transcriptome profiling of corneal endothelium from patients with Fuchs endothelial corneal dystrophy
Autor: Anastasia S. Nikitina, Alexandra V. Belodedova, Boris E. Malyugin, Elena I. Sharova, Elena S. Kostryukova, Andrey K. Larin, Vladimir A. Veselovsky, Olga P. Antonova, Liubov O. Skorodumova
Publikováno v: Data in Brief, Vol 25, Iss , Pp - (2019)
Fuchs endothelial corneal dystrophy (FECD) is a bilateral inherited eye disease with advanced forms only treatable by corneal transplantation. The pathogenesis of FECD has not been worked out yet, however, trinucleotide repeat polymorphism CTG18.1 in
Externí odkaz: https://doaj.org/article/c817933f4d4f4f3b9f726a9050837e23
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6
An Efficient 2D Protocol for Differentiation of iPSCs into Mature Postmitotic Dopaminergic Neurons: Application for Modeling Parkinson’s Disease
Autor: Olga S. Lebedeva, Elena I. Sharova, Dmitriy A. Grekhnev, Liubov O. Skorodumova, Irina V. Kopylova, Ekaterina M. Vassina, Arina Oshkolova, Iuliia V. Novikova, Alena V. Krisanova, Evgenii I. Olekhnovich, Vladimir A. Vigont, Elena V. Kaznacheyeva, Alexandra N. Bogomazova, Maria A. Lagarkova
Publikováno v: International Journal of Molecular Sciences; Volume 24; Issue 8; Pages: 7297
About 15% of patients with parkinsonism have a hereditary form of Parkinson’s disease (PD). Studies on the early stages of PD pathogenesis are challenging due to the lack of relevant models. The most promising ones are models based on dopaminergic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c98c13d180b86fa92ba464bc7dbea7ea
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7
Splice-site variant in the RPS7 5'-UTR leads to a decrease in the mRNA level and development of Diamond-Blackfan anemia
Autor: Liubov O, Skorodumova, Ksenia A, Davydenko, Alexandra Y, Filatova, Mikhail Yu, Skoblov, Nikolay A, Kulemin, Maryam B, Khadzhieva, Elena S, Zakharova, Veronika D, Gordeeva, Nataliya S, Smetanina, Irina V, Fedyushkina, Lyudmila A, Anastasevich, Sergey S, Larin
Publikováno v: Clinical geneticsREFERENCES. 103(1)
Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by erythroid aplasia. Pathogenic variants in ribosomal protein (RP) genes, GATA1, TSR2, and EPO, are considered to be the etiology of DBA. Variants in 5'-untrans
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6b4aab7e615039ab85705e8baa7947b2
https://pubmed.ncbi.nlm.nih.gov/36057918
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8
Rare single nucleotide variants in COL5A1 promoter do not play a major role in keratoconus susceptibility associated with rs1536482
Autor: Mukharram M. Bikbov, Oksana V. Selezneva, E. L. Usubov, Liubov O. Skorodumova, Olga P. Antonova, Olga Yu Fedorenko, Anastasia Levchenko, Liliia N. Iulmetova, Elena S. Zakharova, Svetlana A. Ivanova, Alexandra V. Belodedova, Boris Malyugin, Raul R. Gainetdinov, Elena I. Sharova
Publikováno v: BMC Ophthalmology
BMC Ophthalmology, Vol 21, Iss 1, Pp 1-9 (2021)
Background Keratoconus is a chronic degenerative disorder of the cornea characterized by thinning and cone-shaped protrusions. Although genetic factors play a key role in keratoconus development, the etiology is still under investigation. The occurre
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a796bcd8573167ada21f508a2421e0ab
http://europepmc.org/articles/PMC8501560
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9
Coexistence of Two Rare Genetic Variants in Canonical and Non-canonical Exons of SCN5A: A Potential Source of Misinterpretation
Autor: Leonid Makarov, Edward V. Generozov, Anna Shestak, Irina V. Kolesnikova, Liubov O. Skorodumova, Elena Zaklyazminskaya, Vera Komoliatova
Publikováno v: Frontiers in Genetics, Vol 12 (2021)
Frontiers in Genetics
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::9023a93ec2066264b8a4380c0e465ba9
https://doi.org/10.3389/fgene.2021.722291
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10
THE STUDY OF GENETIC MARKERS ASSOCIATED WITH PRIMARY ENDOTHELIAL CORNEAL DYSTROPHY (FUCHS)
Autor: B. E. Malyugin, O.P. Antonova, S.A. Danilenko, O.V. Selezneva, E. I. Sharova, Liubov O. Skorodumova, Elena S. Kostryukova
Publikováno v: Офтальмохирургия, Vol 0, Iss 4, Pp 44-50 (2017)
Purpose. To assess the frequency of the marker alleles at single polymorphisms rs613872, rs17595731 and CTG18.1 trinucleotide repeat expansion in Russian patients with Fuchs’ endothelial corneal dystrophy (FECD).Material and methods. This study inc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5af8903d4288118b10f047a7a42e004
https://www.ophthalmosurgery.ru/jour/article/view/294
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