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Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.
Shatokhina O, Galeeva N, Stepanova A, Markova T, Lalayants M, Alekseeva N, Tavarkiladze G, Markova T, Bessonova L, Petukhova M, Guseva D, Anisimova I, Polyakov A, Ryzhkova O, Bliznetz E. Shatokhina O, et al. Among authors: bliznetz e. Int J Mol Sci. 2022 Dec 12;23(24):15748. doi: 10.3390/ijms232415748. Int J Mol Sci. 2022. PMID: 36555390 Free PMC article.
A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia.
Solovyev AV, Kushniarevich A, Bliznetz E, Bady-Khoo M, Lalayants MR, Markova TG, Minárik G, Kádasi L, Metspalu E, Pshennikova VG, Teryutin FM, Khusnutdinova EK, Poliakov A, Metspalu M, Posukh OL, Barashkov NA, Fedorova SA. Solovyev AV, et al. Among authors: bliznetz e. Hum Genet. 2022 Apr;141(3-4):697-707. doi: 10.1007/s00439-021-02405-w. Epub 2021 Nov 27. Hum Genet. 2022. PMID: 34839402
Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649).
Knappskog S, Gansmo LB, Dibirova K, Metspalu A, Cybulski C, Peterlongo P, Aaltonen L, Vatten L, Romundstad P, Hveem K, Devilee P, Evans GD, Lin D, Van Camp G, Manolopoulos VG, Osorio A, Milani L, Ozcelik T, Zalloua P, Mouzaya F, Bliznetz E, Balanovska E, Pocheshkova E, Kučinskas V, Atramentova L, Nymadawa P, Titov K, Lavryashina M, Yusupov Y, Bogdanova N, Koshel S, Zamora J, Wedge DC, Charlesworth D, Dörk T, Balanovsky O, Lønning PE. Knappskog S, et al. Among authors: bliznetz e. Oncotarget. 2014 Sep 30;5(18):8223-34. doi: 10.18632/oncotarget.1910. Oncotarget. 2014. PMID: 25327560 Free PMC article.
Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.
Bliznetz EA, Lalayants MR, Markova TG, Balanovsky OP, Balanovska EV, Skhalyakho RA, Pocheshkhova EA, Nikitina NV, Voronin SV, Kudryashova EK, Glotov OS, Polyakov AV. Bliznetz EA, et al. J Hum Genet. 2017 Aug;62(8):789-795. doi: 10.1038/jhg.2017.42. Epub 2017 Apr 13. J Hum Genet. 2017. PMID: 28405014 Free PMC article.