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Publications
| 2023 |
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains
Olga L. Posukh, Ekaterina A. Maslova, Valeriia Yu. Danilchenko, Marina V. Zytsar, Konstantin E. Orishchenko
[Biomolecules]
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Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia)
Danilchenko V. Y., Zytsar M. V., Maslova E. A., Orishchenko K.E, Posukh O.L.
[Genes]
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| 2022 |
Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss
Danilchenko V.Y.; Zytsar M.V.; Maslova E.A.; Posukh O.L.
[INT J MOL SCI]
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| 2021 |
Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)
Valeriia Yu. Danilchenko, Marina V. Zytsar, Ekaterina A. Maslova, Marita S. Bady-Khoo, Nikolay A. Barashkov, Igor V. Morozov, Alexander A. Bondar, Olga L. Posukh
[Diagnostics]
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Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss.
Maslova E.A., Orishchenko K.E., Posukh O.L.
[Biomolecules]
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| 2020 |
High rates of three common GJB2 mutations c.516G>C, c.-23+1G>A, c.235delC in deaf patients from Southern Siberia are due to the founder effect.
Zytsar M.V., Bady-Khoo M.S., Danilchenko V.Y., Maslova E.A., Barashkov N.A., Morozov I.V., Bondar A.A., Posukh O.L.
[Genes]
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Анализ мутационного спектра гена SLC26A4 и его вклада в этиологию наследуемой потери слуха у коренного населения Южной Сибири.
Данильченко В.Ю., Зыцарь М.В., Маслова Е.А., Бады-Хоо М.С., Морозов И.В., Бондарь А.А., Посух О.Л.
[Медицинская генетика]
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Изучение функциональной значимости варианта с.516G>C (p.Trp172Cys) гена GJB2, ассоциированного с потерей слуха у коренного населения Южной Сибири
Маслова Е.А., Зыцарь М.В., Данильченко В.Ю., Орищенко К.Е., Посух О.Л.
[Медицинская генетика]
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| 2019 |
Unique mutational spectrum of the GJB2 gene and its pathogenic contribution to deafness in Tuvinians (Southern Siberia, Russia): a high prevalence of rare variant c.516G>C (p.Trp172Cys).
Posukh O.L., Zytsar M.V., Bady-Khoo M.S., Danilchenko V.Yu., Maslova E.A., Barashkov N.A., Bondar A.A., Morozov I.V., Maximov V.N., Voevoda M.I.
[Genes]
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