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

First molecular screening of deafness in the Altai Republic population

por Posukh, Olga, Pallares-Ruiz, Nathalie, Tadinova, Vera, Osipova, Ludmila, Claustres, Mireille, Roux, Anne-Françoise
Publicado 2005

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

Functional dissection of Drosophila melanogaster SUUR protein influence on H3K27me3 profile

por Posukh, Olga V., Maksimov, Daniil A., Laktionov, Petr P., Koryakov, Dmitry E., Belyakin, Stepan N.
Publicado 2017

Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia)

por Сhurbanov, Alexander Y., Karafet, Tatiana M., Morozov, Igor V., Mikhalskaia, Valeriia Yu., Zytsar, Marina V., Bondar, Alexander A., Posukh, Olga L.
Publicado 2016

Genome-wide analysis of gene regulation mechanisms during Drosophila spermatogenesis

por Laktionov, Petr P., Maksimov, Daniil A., Romanov, Stanislav E., Antoshina, Polina A., Posukh, Olga V., White-Cooper, Helen, Koryakov, Dmitry E., Belyakin, Stepan N.
Publicado 2018

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

The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)

por Pshennikova, Vera G., Teryutin, Fedor M., Cherdonova, Alexandra M., Borisova, Tuyara V., Solovyev, Aisen V., Romanov, Georgii P., Morozov, Igor V., Bondar, Alexander A., Posukh, Olga L., Fedorova, Sardana A., Barashkov, Nikolay A.
Publicado 2023

Association Analysis of Genetic Variants with Type 2 Diabetes in a Mongolian Population in China

por Bai, Haihua, Liu, Haiping, Suyalatu, Suyalatu, Guo, Xiaosen, Chu, Shandan, Chen, Ying, Lan, Tianming, Borjigin, Burenbatu, Orlov, Yuriy L., Posukh, Olga L., Yang, Xiuqin, Guilan, Guilan, Osipova, Ludmila P., Wu, Qizhu, Narisu, Narisu
Publicado 2015

Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia

por Zytsar, Marina V., Barashkov, Nikolay A., Bady-Khoo, Marita S., Shubina-Olejnik, Olga A., Danilenko, Nina G., Bondar, Alexander A., Morozov, Igor V., Solovyev, Aisen V., Danilchenko, Valeriia Yu., Maximov, Vladimir N., Posukh, Olga L.
Publicado 2018

A new approach to estimating the prevalence of hereditary hearing loss: An analysis of the distribution of sign language users based on census data in Russia

por Romanov, Georgii P., Pshennikova, Vera G., Lashin, Sergey A., Solovyev, Aisen V., Teryutin, Fedor M., Cherdonova, Aleksandra M., Borisova, Tuyara V., Sazonov, Nikolay N., Khusnutdinova, Elza K., Posukh, Olga L., Fedorova, Sardana A., Barashkov, Nikolay A.
Publicado 2020

Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population

por Romanov, Georgii P., Smirnova, Anna A., Zamyatin, Vladimir I., Mukhin, Aleksey M., Kazantsev, Fedor V., Pshennikova, Vera G., Teryutin, Fedor M., Solovyev, Aisen V., Fedorova, Sardana A., Posukh, Olga L., Lashin, Sergey A., Barashkov, Nikolay A.
Publicado 2022

Regulatory functions and chromatin loading dynamics of linker histone H1 during endoreplication in Drosophila

por Andreyeva, Evgeniya N., Bernardo, Travis J., Kolesnikova, Tatyana D., Lu, Xingwu, Yarinich, Lyubov A., Bartholdy, Boris A., Guo, Xiaohan, Posukh, Olga V., Healton, Sean, Willcockson, Michael A., Pindyurin, Alexey V., Zhimulev, Igor F., Skoultchi, Arthur I., Fyodorov, Dmitry V.
Publicado 2017

A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha R...

por Barashkov, Nikolay A., Romanov, Georgii P., Borisova, Uigulaana P., Solovyev, Aisen V., Pshennikova, Vera G., Teryutin, Fedor M., Bondar, Alexander A., Morozov, Igor V., Khusnutdinova, Elza K., Posukh, Olga L., Burtseva, Tatiana E., Odland, Jon Øyvind, Fedorova, Sardana A.
Publicado 2019

Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)

por Pshennikova, Vera G., Barashkov, Nikolay A., Romanov, Georgii P., Teryutin, Fedor M., Solov'ev, Aisen V., Gotovtsev, Nyurgun N., Nikanorova, Alena A., Nakhodkin, Sergey S., Sazonov, Nikolay N., Morozov, Igor V., Bondar, Alexander A., Dzhemileva, Lilya U., Khusnutdinova, Elza K., Posukh, Olga L., Fedorova, Sardana A.
Publicado 2019

Age-Related Hearing Impairment (ARHI) Associated with GJB2 Single Mutation IVS1+1G>A in the Yakut Population Isolate in Eastern Siberia

por Barashkov, Nikolay A., Teryutin, Fedor M., Pshennikova, Vera G., Solovyev, Aisen V., Klarov, Leonid A., Solovyeva, Natalya A., Kozhevnikov, Andrei A., Vasilyeva, Lena M., Fedotova, Elvira E., Pak, Maria V., Lekhanova, Sargylana N., Zakharova, Elena V., Savvinova, Kyunney E., Gotovtsev, Nyurgun N., Rafailo, Adyum M., Luginov, Nikolay V., Alexeev, Anatoliy N., Posukh, Olga L., Dzhemileva, Lilya U., Khusnutdinova, Elza K., Fedorova, Sardana A.
Publicado 2014