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).

Autor: Danilchenko VY; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia.; Novosibirsk State University, 630090 Novosibirsk, Russia., Zytsar MV; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia., Maslova EA; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia.; Novosibirsk State University, 630090 Novosibirsk, Russia., Orishchenko KE; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia.; Novosibirsk State University, 630090 Novosibirsk, Russia., Posukh OL; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia.; Novosibirsk State University, 630090 Novosibirsk, Russia.

Publikováno v: Genes [Genes (Basel)] 2023 Apr 17; Vol. 14 (4). Date of Electronic Publication: 2023 Apr 17.

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

Autor: Danilchenko VY; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia.; Novosibirsk State University, 630090 Novosibirsk, Russia., Zytsar MV; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia., Maslova EA; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia.; Novosibirsk State University, 630090 Novosibirsk, Russia., Bady-Khoo MS; Perinatal Center of the Republic of Tyva, 667000 Kyzyl, Russia., Barashkov NA; Yakut Scientific Centre of Complex Medical Problems, 677019 Yakutsk, Russia.; M.K. Ammosov North-Eastern Federal University, 677027 Yakutsk, Russia., Morozov IV; Novosibirsk State University, 630090 Novosibirsk, Russia.; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia., Bondar AA; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia., Posukh OL; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia.; Novosibirsk State University, 630090 Novosibirsk, Russia.

Publikováno v: Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2021 Dec 17; Vol. 11 (12). Date of Electronic Publication: 2021 Dec 17.

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).

Autor: Posukh OL; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia. posukh@bionet.nsc.ru.; Novosibirsk State University, 630090 Novosibirsk, Russia. posukh@bionet.nsc.ru., Zytsar MV; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia. zytzar@bionet.nsc.ru., Bady-Khoo MS; Research Institute of Medical-Social Problems and Management of the Republic of Tyva, 667000 Kyzyl, Russia. marita.badyhoo@mail.ru.; Perinatal Center of the Republic of Tyva, 667000 Kyzyl, Russia. marita.badyhoo@mail.ru., Danilchenko VY; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia. danilchenko_valeri@mail.ru., Maslova EA; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia. maslova@bionet.nsc.ru.; Novosibirsk State University, 630090 Novosibirsk, Russia. maslova@bionet.nsc.ru., Barashkov NA; Yakut Scientific Centre of Complex Medical Problems, 677019 Yakutsk, Russia. barashkov2004@mail.ru.; M.K. Ammosov North-Eastern Federal University, 677027 Yakutsk, Russia. barashkov2004@mail.ru., Bondar AA; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia. alex.bondar@mail.ru., Morozov IV; Novosibirsk State University, 630090 Novosibirsk, Russia. Mor@niboch.nsc.ru.; Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia. Mor@niboch.nsc.ru., Maximov VN; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia. medik11@mail.ru.; Novosibirsk State University, 630090 Novosibirsk, Russia. medik11@mail.ru., Voevoda MI; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novosibirsk, Russia. voevoda@bionet.nsc.ru.; Novosibirsk State University, 630090 Novosibirsk, Russia. voevoda@bionet.nsc.ru.

Publikováno v: Genes [Genes (Basel)] 2019 Jun 05; Vol. 10 (6). Date of Electronic Publication: 2019 Jun 05.

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

Autor: Сhurbanov AY; Arizona Research Laboratories, Division of Biotechnology, University of Arizona, Tucson, Arizona, United States of America., Karafet TM; Arizona Research Laboratories, Division of Biotechnology, University of Arizona, Tucson, Arizona, United States of America., Morozov IV; SB RAS Genomics Core Facility, Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russian Federation.; Novosibirsk State University, Novosibirsk, Russian Federation., Mikhalskaia VY; Novosibirsk State University, Novosibirsk, Russian Federation.; Laboratory of Human Molecular Genetics, Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russian Federation., Zytsar MV; Novosibirsk State University, Novosibirsk, Russian Federation.; Laboratory of Human Molecular Genetics, Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russian Federation., Bondar AA; SB RAS Genomics Core Facility, Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russian Federation., Posukh OL; Novosibirsk State University, Novosibirsk, Russian Federation.; Laboratory of Human Molecular Genetics, Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russian Federation.

Publikováno v: PloS one [PLoS One] 2016 Apr 15; Vol. 11 (4), pp. e0153841. Date of Electronic Publication: 2016 Apr 15 (Print Publication: 2016).