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По вашему запросу найдено документов: 61

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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)

on the structure or function of a protein without conducting functional studies. The accuracy of in silico

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

MUTATIONAL LANDSCAPE OF PROSTATE TUMORS REVEALED BY WHOLE-EXOME SEQUENCING

Gilyazova, I.R., Yankina, M.A., Kunsbaeva, G.B., Klimentova, E.A., Izmaylov, A.A., V.N. Pavlov, Khusnutdinova, E.K. (2016)

A NOVEL PATHOGENIC VARIANT C.975G>A (P.TRP325*) IN THE POU3F4 GENE IN YAKUT FAMILY (EASTERN SIBERIA, RUSSIA) WITH THE X-LINKED DEAFNESS-2 (DFNX2)

BARASHKOV, N.A., KLAROV, L.A., TERYUTIN, F.M., SOLOVYEV, A.V., PSHENNIKOVA, V.G., ROMANOV, G.P., TOMSKY, M.I., FEDOROVA, S.A., KONNIKOVA, E.E., TOBOKHOV, A.V., MOROZOV, I.V., BONDAR, A.A., POSUKH, O.L., DZHEMILEVA, L.U., KHUSNUTDINOVA, E.K. (2018)

Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found

INVESTIGATION OF THE ROLE OF MICRORNA ASSOCIATED WITH THE VHL-HIFα-DEPENDENT PATHWAY IN PATIENTS WITH CLEAR CELL RENAL CELL CARCINOMA

KLIMENTOVA, E.A., GILYAZOVA, I.R., BERMISHEVA, M.A., BLINNIKOVA, A. M., SAFIULLIN, R.I., IZMAILOV, A.A., YANG, B., PAVLOV ., V.N, KHUSNUTDINOVA, E.K. (2020)

Renal cell carcinoma (RCC) is a common renal neoplasia of various morphological types, among which

Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene

Barashkov, N.A., Konovalov, F.A., Borisova, T.V., Teryutin, F.M., Solovyev, A.V., Pshennikova, V.G., Sapojnikova, N.V., Vychuzhina, L.S., Romanov, G.P., Gotovtsev, N.N., Morozov, I.V., Bondar, A.A., Platonov, F.A., Burtseva, T.E., Khusnutdinova, E.K., Posukh, O.L., Fedorova, S.A. (2021)

this variant in a homozygous state in 25 out of 29 Yakut families with congenital cataract (86%). Among 424

EPIGENETIC MARKERS OF ASTHMA: A STUDY OF METHYLATION PATTERNS OF GENES INVOLVED IN DRUG METABOLISM

Savelieva, O.N., Karunas, A.S., Vlasova, A.O., Ahmetshin, A.A., Khidiyatova, I.M., Khusnutdinova, E.K. (2024)

Asthma is a common chronic multifactorial respiratory disease. Genes involved in the metabolism

Exome sequencing study of Russian breast cancer patients suggests a predisposing role for USP39

: Bioinformatic analysis of WES data was allowed to compile a list of 229 candidate mutations. 79

MICRORNA MIR-152 METHYLATION IN PATIENTS WITH OVARIAN CANCER: PROGNOSTIC POTENTIAL ANALYSIS

Fedorova, Yu Yu, Sagitova, A.V., Mingazheva, E.T., Faishanova, R.R., Zagitov, I.R., Andreeva, E.A., Nurgalieva, A.Kh., Khusnutdinova, E.K., Darvish, M., Prokofyeva, D.S. (2024)

MicroRNAs play a crucial role in the regulation of biological processes variety associated

ABERRANT METHYLATION GENES MIR-663A AND MIR-663B AND OVARIAN CANCER PATHOGENESIS

Fedorova, Yu. Yu., Aminova, E.T., Faishanova, R.R., Zagitov, I.R., Romanova, A.R., Nurgalieva, A.Kh., Andreeva, E.A., Darvish, M., Khusnutdinova, E.K., Prokofyeva, D.S. (2025)

a and miR-663b in 25 paired tissue samples from patients with an established diagnosis of ovarian

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