Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Fedor M, Teryutin"'
Autor:
Tuyara V. Borisova, Aleksandra M. Cherdonova, Vera G. Pshennikova, Fedor M. Teryutin, Igor V. Morozov, Alexander A. Bondar, Olga A. Baturina, Marsel R. Kabilov, Georgii P. Romanov, Aisen V. Solovyev, Sardana A. Fedorova, Nikolay A. Barashkov
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Mitochondrial forms account approximately 1–2% of all nonsyndromic cases of hearing loss (HL). One of the most common causative variants of mtDNA is the m.1555A > G variant of the MT-RNR1 gene (OMIM 561000). Currently the detection of the
Externí odkaz:
https://doaj.org/article/e857d32e5fce41179211500a006e9097
Autor:
Fedor M Teryutin, Vera G Pshennikova, Aisen V Solovyev, Georgii P Romanov, Sardana A Fedorova, Nikolay A Barashkov
Publikováno v:
PLoS ONE, Vol 19, Iss 10, p e0309439 (2024)
The audiological features of hearing loss (HL) in patients with autosomal recessive deafness type 1A (DFNB1A) caused by splice site variants of the GJB2 gene are less studied than those of patients with other variants of this gene. In this study, we
Externí odkaz:
https://doaj.org/article/bf6ff2898bde4203b2b5f9322bd8c35c
Autor:
Georgii P Romanov, Vera G Pshennikova, Sergey A Lashin, Aisen V Solovyev, Fedor M Teryutin, Aleksandra M Cherdonova, Tuyara V Borisova, Nikolay N Sazonov, Elza K Khusnutdinova, Olga L Posukh, Sardana A Fedorova, Nikolay A Barashkov
Publikováno v:
PLoS ONE, Vol 15, Iss 11, p e0242219 (2020)
The absence of comparable epidemiological data challenges the correct estimation of the prevalence of congenital hearing loss (HL) around the world. Sign language (SL) is known as the main type of communication of deaf people. We suggest that the dis
Externí odkaz:
https://doaj.org/article/1fad53822f4a4f9f985e33c6a373c125
Autor:
Georgii P. Romanov, Anna A. Smirnova, Vladimir I. Zamyatin, Aleksey M. Mukhin, Fedor V. Kazantsev, Vera G. Pshennikova, Fedor M. Teryutin, Aisen V. Solovyev, Sardana A. Fedorova, Olga L. Posukh, Sergey A. Lashin, Nikolay A. Barashkov
Publikováno v:
Biology, Vol 11, Iss 2, p 257 (2022)
An increase in the prevalence of autosomal recessive deafness 1A (DFNB1A) in populations of European descent was shown to be promoted by assortative marriages among deaf people. Assortative marriages became possible with the widespread introduction o
Externí odkaz:
https://doaj.org/article/41a5d0c6f17d44bebb1d1a79d7db13d9
Autor:
Nikolay A. Barashkov, Georgii P. Romanov, Uigulaana P. Borisova, Aisen V. Solovyev, Vera G. Pshennikova, Fedor M. Teryutin, Alexander A. Bondar, Igor V. Morozov, Elza K. Khusnutdinova, Olga L. Posukh, Tatiana E. Burtseva, Jon Øyvind Odland, Sardana A. Fedorova
Publikováno v:
International Journal of Circumpolar Health, Vol 78, Iss 1 (2019)
Waardenburg syndrome (WS) is an orphan genetic disease with autosomal dominant pattern of inheritance characterised by varying degrees of hearing loss accompanied by skin, hair and iris pigmentation abnormalities. Four types of WS differing in phenot
Externí odkaz:
https://doaj.org/article/9ce92d50cdb7413bbd9b6090097ffef5
Autor:
Sergey S. Nakhodkin, Vera G. Pshennikova, Paraskovia S. Dyachkovskaya, Nikolay A. Barashkov, Alena A. Nikanorova, Fedor M. Teryutin, Olga A. Melnichuk, Eric Crubézy, Sardana A. Fedorova, Jean-François Magnaval
Publikováno v:
International Journal of Circumpolar Health, Vol 78, Iss 1 (2019)
In 2018, a seroepidemiological survey was carried out in 3 ulus, or districts (Churapchinsky, Megino-Kangalassky and Ust-Aldansky) in Central Yakutia (Sakha Republic, Russian Federation) about 3 helminth zoonoses, namely, echinococcosis (alveolar or
Externí odkaz:
https://doaj.org/article/d91cf00708ee4a2694f8ab72b16c009d
Autor:
Vera G. Pshennikova, Nikolay A. Barashkov, Georgii P. Romanov, Fedor M. Teryutin, Aisen V. Solov’ev, Nyurgun N. Gotovtsev, Alena A. Nikanorova, Sergey S. Nakhodkin, Nikolay N. Sazonov, Igor V. Morozov, Alexander A. Bondar, Lilya U. Dzhemileva, Elza K. Khusnutdinova, Olga L. Posukh, Sardana A. Fedorova
Publikováno v:
The Scientific World Journal, Vol 2019 (2019)
In silico predictive software allows assessing the effect of amino acid substitutions on the structure or function of a protein without conducting functional studies. The accuracy of in silico pathogenicity prediction tools has not been previously as
Externí odkaz:
https://doaj.org/article/2d306a026a634d3a81ca1fcf7ceb70cb
The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)
Autor:
Vera G. Pshennikova, Fedor M. Teryutin, Alexandra M. Cherdonova, Tuyara V. Borisova, Aisen V. Solovyev, Georgii P. Romanov, Igor V. Morozov, Alexander A. Bondar, Olga L. Posukh, Sardana A. Fedorova, Nikolay A. Barashkov
Publikováno v:
Genes; Volume 14; Issue 5; Pages: 1001
The GJB2 (Cx26) gene pathogenic variants are associated with autosomal recessive deafness type 1A (DFNB1A, OMIM #220290). Direct sequencing of the GJB2 gene among 165 hearing-impaired individuals living in the Baikal Lake region of Russia identified
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd97c3ca37f89a5a06133c8c1920ae8c
Autor:
V.G. Pshennikova, Olga L. Posukh, Gabriel Minarik, Nikolay A. Barashkov, Elza Khusnutdinova, Ludevit Kadasi, Aisen V. Solovyev, Alexander Poliakov, Mait Metspalu, Alena Kushniarevich, M. R. Lalayants, Fedor M. Teryutin, E. A. Bliznetz, Marita S. Bady-Khoo, T. G. Markova, Ene Metspalu, Sardana A. Fedorova
Publikováno v:
Human Genetics. 141:697-707
Mutations in the GJB2 gene are known to be a major cause of autosomal recessive deafness 1A (OMIM 220290). The most common pathogenic variants of the GJB2 gene have a high ethno-geographic specificity in their distribution, being attributed to a foun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ea4cb3f6840f4e54226b24f20725f9a
https://doi.org/10.1007/s00439-021-02405-w
https://doi.org/10.1007/s00439-021-02405-w
Autor:
Leonid A, Klarov, Vera G, Pshennikova, Georgii P, Romanov, Aleksandra M, Cherdonova, Aisen V, Solovyev, Fedor M, Teryutin, Nikolay V, Luginov, Petr M, Kotlyarov, Nikolay A, Barashkov
Publikováno v:
International journal of molecular sciences. 23(23)
Pathogenic variants in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::df8e0fafc83f793542c9da3639c1b70a
https://pubmed.ncbi.nlm.nih.gov/36499699
https://pubmed.ncbi.nlm.nih.gov/36499699