Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss

por Maslova, Ekaterina A., Orishchenko, Konstantin E., Posukh, Olga L.
Publicado 2021

Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss

por Danilchenko, Valeriia Yu., Zytsar, Marina V., Maslova, Ekaterina A., Posukh, Olga L.
Publicado 2022

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)

por Danilchenko, Valeriia Yu., Zytsar, Marina V., Maslova, Ekaterina A., Orishchenko, Konstantin E., Posukh, Olga L.
Publicado 2023

Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains

por Posukh, Olga L., Maslova, Ekaterina A., Danilchenko, Valeriia Yu., Zytsar, Marina V., Orishchenko, Konstantin E.
Publicado 2023

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

por Zytsar, Marina V., Bady-Khoo, Marita S., Danilchenko, Valeriia Yu., Maslova, Ekaterina A., Barashkov, Nikolay A., Morozov, Igor V., Bondar, Alexander A., Posukh, Olga L.
Publicado 2020

Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)

por Danilchenko, Valeriia Yu., Zytsar, Marina V., Maslova, Ekaterina A., Bady-Khoo, Marita S., Barashkov, Nikolay A., Morozov, Igor V., Bondar, Alexander A., Posukh, Olga L.
Publicado 2021

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.Trp17...

por Posukh, Olga L., Zytsar, Marina V., Bady-Khoo, Marita S., Danilchenko, Valeria Yu., Maslova, Ekaterina A., Barashkov, Nikolay A., Bondar, Alexander A., Morozov, Igor V., Maximov, Vladimir N., Voevoda, Michael I.
Publicado 2019