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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)
Barashkov, Nikolay A., Pshennikova, Vera G., Posukh, Olga L., Teryutin, Fedor M., Solovyev, Aisen V., Klarov, Leonid A., Romanov, Georgii P., Gotovtsev, Nyurgun N., Kozhevnikov, Andrey A., Kirillina, Elena V., Sidorova, Oksana G., Vasilyevа, Lena M., Fedotova, Elvira E., Morozov, Igor V., Bondar, Alexander A., Solovyevа, Natalya A., Kononova, Sardana K., Rafailov, Adyum M., Sazonov, Nikolay N., Alekseev, Anatoliy N., Tomsky, Mikhail I., Dzhemileva, Lilya U., Khusnutdinova, Elza K., Fedorova, Sardana A. (2016)
Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major cause
Взаимосвязь между полиморфизмами генов хемокинов и хемокиновых рецепторов и восприимчивостью к хронической обструктивной болезни легких у татарского населения из России: исследование случай-контроль
The Relationship Between Chemokine and Chemokine Receptor Genes Polymorphisms and Chronic Obstructive Pulmonary Disease Susceptibility in Tatar Population from Russia: A Case Control Study
Korytina, G.F., Aznabaeva, Y.G., Akhmadishina, L.Z., Kochetova, O.V., Nasibullin, T.R., Zagidullin, N.S., Zagidullin, S.Z., Viktorova, T.V., Коритина, Г. Ф., Азнабаева, Ю. Г., Ахмадишина, Л. З., Кочетова, О.В., Насибуллин, Т.Р., Загидуллин, Н. Ш., Загидуллин, Ш.З., Викторова, Т.В. (2022)
The Relationship Between Chemokine and Chemokine Receptor Genes Polymorphisms and Chronic
МАЖОРНАЯ МУТАЦИЯ В ГЕНЕ SPAST У ПАЦИЕНТОВ С АУТОСОМНО-ДОМИНАНТНОЙ СПАСТИЧЕСКОЙ ПАРАПЛЕГИЕЙ ИЗ РЕСПУБЛИКИ БАШКОРТОСТАН
MAJOR MUTATION IN THE SPAST GENE IN PATIENTS WITH AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA FROM THE REPUBLIC OF BASHKORTOSTAN
KHIDIYATOVA, I.M., AKHMETGALEYEVA, A.F., YANKINA, M.A., KHUSNUTDINOVA, E.K., SHAVALIEVA, V.V., SAIFULLINA, E.V., MAGZHANOV, R.V., IDRISOVA, R.F., ХИДИЯТОВА И.М., АХМЕТГАЛЕЕВА А.Ф., САЙФУЛЛИНА Е.В., ИДРИСОВА Р.Ф., ЯНКИНА М.А., ШАВАЛИЕВА В.В., МАГЖАНОВ Р.В., ХУСНУТДИНОВА Э.К. (2019)
in more than 70 genetic loci. The main causes of HSP development are mutations in the SPAST gene
AVPR1A MAIN EFFECT AND OXTR-BY-ENVIRONMENT INTERPLAY IN INDIVIDUAL DIFFERENCES IN DEPRESSION LEVEL
KAZANTSEVA, A.V., DAVYDOVA, YU.D., ENIKEEVA, R.F., LOBASKOVA, M.M., MUSTAFIN, R.N., MALYKH, S.B., TAKHIROVA, Z.R., KHUSNUTDINOVA, E.K. (2020)
Background: Multiple studies of depression indicated a significant role of gene
MOLECULAR AND BIOCHEMICAL STUDY OF GLUTARIC ACIDURIA TYPE 1 IN 49 RUSSIAN FAMILIES: NINE NOVEL MUTATIONS IN THE GCDH GENE
KURKINA, M.V., MIHAYLOVA, S.V., BAIDAKOVA, G.V., SAIFULLINA, E.V., KOROSTELEV, S.A., PYANKOV, D.V., KANIVETS, I.V., YUNIN, M.A., PECHATNIKOVA, N.L., ZAKHAROVA, E.YU (2020)
) (ICD-10 code: E72.3; MIM 231670) is an autosomal recessive disease caused by mutations in the gene
GENOME-WIDE ASSOCIATION AND TRANSCRIPTOME STUDIES IDENTIFY TARGET GENES AND RISK LOCI FOR BREAST CANCER
Ferreira, M.A., Gamazon, E.R., Al-Ejeh, F., Aittomäki, K., Andrulis, I.L., Anton-Culver, H., Arason, A., Arndt, V., Aronson, K.J., Arun, B.K., Asseryanis, E., Azzollini, J., Balmaña, J., Barnes, D.R., Barrowdale, D., Beckmann, M.W., Behrens, S., Benitez, J., Bermisheva, M., Białkowska, K., Blomqvist, C., Bogdanova, N.V., Bojesen, S.E., Bolla, M.K., Borg, A., Brauch, H., Brenner, H., Broeks, A., Burwinkel, B., Caldés, T., Caligo, M.A., Campa, D., Campbell, I., Canzian, F., Carter, J., Carter, B.D., Castelao, J.E., Chang-Claude, J., Chanock, S.J., Christiansen, H., Chung, W.K., Claes, K.B.M., Clarke, C.L., Adlard, J., Ahmed, M., Barwell, J., Henderson, A., Hodgson, S., Izatt, L., Kennedy, M.J., Lalloo, F., Miller, C., Morrison, P.J., Ong, K.-R., Perkins, J., Porteous, M.E., Rogers, M.T., Side, L.E., Snape, K., Walker, L., Harrington, P.A., Arnold, N., Auber, B., Bogdanova-Markov, N., Borde, J., Caliebe, A., Ditsch, N., Dworniczak, B., Engert, S., Faust, U. (2019)
QTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast
Association of inflammation gene polymorphism with increased risk of metabolic syndrome in tatar ethnic group
Kochetova, Olga V., Avzaletdinova, Diana S., Korytina, Gulnaz F. (2022)
of polymorphic variants of inflammation genes with MetS and serum levels of high-sensitivity C-reactive protein
REPLICATIVE STUDY OF GWAS-ASSOCIATED CANDIDATE GENE LOCI IN PATIENTS WITH OSTEOARTHRITIS FROM THE BASHKORTOSTAN REPUBLIC
TYURIN, A.V., SHAPOVALOVA, DARIA, DAVLETSHIN, RASHIT, KHUSAINOVA, RITA, LUKMANOVA, L.Z. (2019)
REPLICATIVE STUDY OF GWAS-ASSOCIATED CANDIDATE GENE LOCI IN PATIENTS WITH OSTEOARTHRITIS FROM
Вовлеченность генов KIBRA и APOE в формирование особенностей пространственного мышления человека
The role of the KIBRA and APOE genes in developing spatial abilities in humans
Kazantseva, AV, Enikeeva, RF, Davydova, YD, Mustafin, RN, Takhirova, ZR, Malykh, SB, Lobaskova, MM, Tikhomirova, TN, Khusnutdinova, EK, Казанцева, А. В., Еникеева, Р. Ф., Давыдова, Ю. Д., Мустафин, Р. Н., Тахирова, З. Р., Малых, С. Б., Лобаскова, М. М., Тихомирова, Т. Н., Хуснутдинова, Э. К. (2021)
of genes involved in the regulation of neurogenesis and synaptic plasticity. In addition, genome
MULTILOCUS ASSOCIATIONS OF INFLAMMATORY GENES WITH THE RISK OF TYPE 1 DIABETES
TIMASHEVA, Y.R., NASIBULLIN, T.R., MUSTAFINA, O.E., BALKHIYAROVA, Z.R., PROKOPENKO, I., AVZALETDINOVA, D.S., MORUGOVA, T.V. (2019)
with polymorphic markers in other inflammatory genes, and the analysis of multi-allelic combinations provides

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