Výsledky vyhledávání - "Fedor M. Teryutin"

Akademický článek

High prevalence of m.1555A > G in patients with hearing loss in the Baikal Lake region of Russia as a result of founder effect

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

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Akademický článek

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

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

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Akademický článek

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 Republic, Russia)

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

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Akademický článek

A serological survey of echinococcosis, toxocariasis and trichinellosis among rural inhabitants of Central Yakutia

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

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Akademický článek

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

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

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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

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A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia

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

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

Publikováno v: Biology; Volume 11; Issue 2; Pages: 257

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bdfff18b37a0cf3361b773f18daeffc
https://pubmed.ncbi.nlm.nih.gov/35205123

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The Russian Old-Settlers in the Arctic Coast of Eastern Siberia: Family Name Diversity in the Context of Their Origin

Autor: Georgii P. Romanov, Aisen V. Solovyev, Sardana A. Fedorova, Fedor M. Teryutin, Tuyara V. Borisova, Aleksandra M. Cherdonova, V.G. Pshennikova, Nikolay A. Barashkov, Anatoly N. Alekseev, Sargylana E. Nikitina, Olga V. Vasileva, Nyurgun N. Gotovtsev

Publikováno v: Sustainability, Vol 13, Iss 10895, p 10895 (2021)
Sustainability
Volume 13
Issue 19

The populations of the Arctic Ocean coast in Eastern Siberia (Russia) are represented by a multicultural conglomerate of peoples of different origins: Paleo-Asiatic (Chukchi), Uralic (Yukaghirs), Tungusic (Evenks, Evens), Turkic (Yakuts, Dolgans), an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c98def2f0b388d722b0f6df1d9a2d7d
https://www.mdpi.com/2071-1050/13/19/10895

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