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COMPARISON OF PREDICTIVE IN SILICO TOOLS ON MISSENSE VARIANTS IN GJB2, GJB6, AND GJB3 GENES ASSOCIATED WITH AUTOSOMAL RECESSIVE DEAFNESS 1A (DFNB1A)

PSHENNIKOVA, V.G., BARASHKOV, N.A., ROMANOV, G.P., TERYUTIN, F.M., SOLOV'EV, A.V., GOTOVTSEV, N.N., NIKANOROVA, A.A., FEDOROVA, S.A., NAKHODKIN, S.S., SAZONOV, N.N., MOROZOV, I.V., BONDAR, A.A., POSUKH, O.L, DZHEMILEVA, L.U., KHUSNUTDINOVA, E.K. (2019)

predictions for missense variants of the GJB2 (Cx26), GJB6 (Cx30), and GJB3 (Cx31) connexin genes associated

RECONSTRUCTION OF SNP HAPLOTYPES WITH MUTATION C.-23+1G>A IN HUMAN GENE GJB2 (CHROMOSOME 13) IN SOME POPULATIONS OF EURASIA

Solovyev, A.V., Barashkov, N.A., Bady-Khoo, M.S., Zytsar, M.V., Posukh, O.L., Romanov, G.P., Rafailov, A.M., Sazonov, N.N., Alexeev, A.N., Dzhemileva, L.U., Khusnutdinova, E.K., Fedorova, S.A. (2017)

The c.-23+1G>A splice site mutation is one of the most frequent mutations of gene GJB2 (Cx26, 13q11

SPECTRUM AND FREQUENCY OF THE GJB2 GENE PATHOGENIC VARIANTS IN A LARGE COHORT OF PATIENTS WITH HEARING IMPAIRMENT LIVING IN A SUBARCTIC REGION OF RUSSIA (THE SAKHA REPUBLIC)

Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major cause

OPINIONS OF HEARING PARENTS ABOUT THE CAUSES OF HEARING IMPAIRMENT OF THEIR CHILDREN WITH BIALLELIC GJB2 MUTATIONS

Solovyev, A.V., Dzhemileva, L.U., Posukh, O.L., Barashkov, N.A., Bady-Khoo, M.S., Lobov, S.L., Popova, N.Y., Romanov, G.P., Sazonov, N.N., Bondar, A.A., Morozov, I.V., Tomsky, M.I., Fedorova, S.A., Khusnutdinova, E.K. (2017)

children with HI due to mutations in the GJB2 gene and 91 questionnaires about the presumed causes

CHEMOKINE GENE POLYMORPHISMS ASSOCIATION WITH INCREASED RISK OF TYPE 2 DIABETES MELLITUS IN TATAR ETHNIC GROUP, RUSSIA

KOCHETOVA, O.V., MUSTAFINA, O.E., AVZALETDINOVA, D.S., MORUGOVA, T.V. (2019)

revealed that some SNPs in chemokine genes are associated with obesity, insulin resistance, type 2 diabetes

IDENTIFICATION OF HUB GENES AND SMALL-MOLECULE COMPOUNDS RELATED TO INTRACEREBRAL HEMORRHAGE WITH BIOINFORMATICS ANALYSIS

LIU, Z., ZHANG, R., CHEN, X., YAO, P., YAN, T., LIU, W., YAO, J., ZHAO, S., SOKHATSKII, A., GAREEV, I. (2019)

for differentially expressed genes (DEGs) in ICH, with a fold change (FC) value of (|log2FC|) > 2 and a P-value of <0

ANALYSIS OF ASSOCIATIONS OF ALLELES AND GENOTYPES OF POLYMORPHIC LOCI OF A RANGE OF CANDIDATE GENES WITH PHENOTYPIC VARIATIONS AT THE LEVEL OF INTELLIGENCE

Nurgalieva, A.Kh., Bashkatov, S.A., Volkova, E.V., Petrova, S.G., Takhirova, Z.R., Mustafin, R.N., Fedorova, Y.Y., Prokofyeva, D.S., Khusnutdinova, E.K. (2023)

1387923 of the NTRK2 gene, on the «mathematical intelligence» scale – rs6265 of the BDNF gene

РОЛЬ МЕЖГЕННЫХ ВЗАИМОДЕЙСТВИЙ ГЕНОВ НЕЙРОТРОФИЧЕСКОЙ И НЕЙРОМЕДИАТОРНОЙ СИСТЕМЫ В РАЗВИТИИ ПРЕДРАСПОЛОЖЕННОСТИ К ПАРАНОИДНОЙ ШИЗОФРЕНИИ

THE ROLE OF INTERGENIC INTERACTIONS OF NEUROTROPHIC AND NEUROTRANSMITTER SYSTEM GENES IN THE DEVELOPMENT OF SUSCEPTIBILITY TO PARANOID SCHIZOPHRENIA

GAREEVA, A.E., KHUSNUTDINOVA, E.K., ГАРЕЕВА А.Э., ХУСНУТДИНОВА Э. (2020)

of six genes of the neurotrophin and neurexin system (BDNF, NTRK2, NTRK3, NGF, NXPH1, NRXN1) and nine

Association of Polymorphisms in Neurotransmitter Genes and the TMEM18 Gene with Eating Behavior in Obese Patients

Kochetova, OV, Avzaletdinova, DS, Shangareeva, ZA, Akhmadishina, LZ, Korytina, GF, Victorov, VV, Victorova, TV (2021)

was identified in AC-AA genotype carriers at locus rs1805476 of gene GRIN2B (P = 0.04) and GG genotype carriers

THE INFLUENCE OF GENES, miRNAs AND RETROELEMENTS ON PSYCHOLOGICAL WELL-BEING

Mustafin, R.N., Khusnutdinova, E.K. (2024)

with psychological well-being has been shown for the APOE, OXTR, OXT, NMUR2, CNR1, CRHR1, and CYP19A1 genes

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