Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Valeriia Yu. Danilchenko"'
Autor:
Olga L. Posukh, Ekaterina A. Maslova, Valeriia Yu. Danilchenko, Marina V. Zytsar, Konstantin E. Orishchenko
Publikováno v:
Biomolecules, Vol 13, Iss 10, p 1521 (2023)
One of the most common forms of genetic deafness has been predominantly associated with pathogenic variants in the GJB2 gene, encoding transmembrane protein connexin 26 (Cx26). The Cx26 molecule consists of an N-terminal domain (NT), four transmembra
Externí odkaz:
https://doaj.org/article/5bbd6f9521204f649ff5bb0021773879
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 21, p 13453 (2022)
Screening pathogenic variants in the SLC26A4 gene is an important part of molecular genetic testing for hearing loss (HL) since they are one of the common causes of hereditary HL in many populations. However, a large size of the SLC26A4 gene (20 codi
Externí odkaz:
https://doaj.org/article/7da6a540d8974a358c6da6e8f85a8991
Autor:
Marina V. Zytsar, Nikolay A. Barashkov, Marita S. Bady-Khoo, Olga A. Shubina-Olejnik, Nina G. Danilenko, Alexander A. Bondar, Igor V. Morozov, Aisen V. Solovyev, Valeriia Yu. Danilchenko, Vladimir N. Maximov, Olga L. Posukh
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-9 (2018)
Abstract Background Mutations in GJB2 gene are a major causes of deafness and their spectrum and prevalence are specific for various populations. The well-known mutation c.35delG is more frequent in populations of Caucasian origin. Data on the c.35de
Externí odkaz:
https://doaj.org/article/b6738adfe8d943aa907dab8a1b0ae287
Autor:
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
Publikováno v:
Diagnostics, Vol 11, Iss 12, p 2378 (2021)
Hereditary hearing loss (HL) is known to be highly locus/allelic heterogeneous, and the prevalence of different HL forms significantly varies among populations worldwide. Investigation of region-specific landscapes of hereditary HL is important for l
Externí odkaz:
https://doaj.org/article/4800eab104624524956d659e19c4d0b7
Autor:
Valeriia Yu. Danilchenko, Ekaterina A Maslova, Olga L. Posukh, Igor Morozov, Alexander A. Bondar, Marita S. Bady-Khoo, Marina V. Zytsar, Nikolay A. Barashkov
Publikováno v:
Genes, Vol 11, Iss 833, p 833 (2020)
Genes
Genes
The mutations in the GJB2 gene (13q12.11, MIM 121011) encoding transmembrane protein connexin 26 (Cx26) account for a significant portion of hereditary hearing loss worldwide. Earlier we found a high prevalence of recessive GJB2 mutations c.516G>C, c
Autor:
Olga L. Posukh, Nina Danilenko, Aisen V. Solovyev, Alexander A. Bondar, Marina V. Zytsar, Nikolay A. Barashkov, Valeriia Yu. Danilchenko, Marita S. Bady-Khoo, Igor Morozov, Olga A. Shubina-Olejnik, V. Maximov
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-9 (2018)
BMC Medical Genetics
BMC Medical Genetics
Background Mutations in GJB2 gene are a major causes of deafness and their spectrum and prevalence are specific for various populations. The well-known mutation c.35delG is more frequent in populations of Caucasian origin. Data on the c.35delG preval