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Population Characteristics of the Spectrum and Frequencies of CFTR Gene Mutations in Patients with Cystic Fibrosis from the Republic of Bashkortostan (Russia)
Ayupova, Guzel, Litvinov, Sergey, Akhmetova, Vita, Minniakhmetov, Ildar, Mokrysheva, Natalia, Khusainova, Rita (2024)
regulator gene (CFTR) mutations in the population, which is determined by genetic diversity and ethnicity
ПРОБЛЕМЫ И ДОСТИЖЕНИЯ В ИЗУЧЕНИИ КЛИНИКО-ГЕНЕТИЧЕСКИХ АСПЕКТОВ МУКОВИСЦИДОЗА
PROBLEMS AND ACHIEVEMENTS IN THE STUDY OF CLINICAL AND GENETIC ASPECTS OF CYSTIC FIBROSIS
АЮПОВА, Г.Р., МИННИАХМЕТОВ, И.Р., ХУСАИНОВА, Р.И., AYUPOVA, G.R., MINNIAKHMETOV, I.R., KHUSAINOVA, R.I. (2022)
синтеза, структуры и функции белка трансмембранного регулятора проводимости муковисцидоза (CFTR - от англ
Клинико-генетическая характеристика муковисцидоза в Республике Башкортостан
Clinical and genetic characteristics of cystic fibrosis in the Republic of Bashkortostan
Ayupova, Guzel R., Khusainova, Rita I., Аюпова, Г.Р., Хусаинова, Р.И. (2023)
CFTR: Phe508del, E92K, CFTRdele2,3, 3849+10kbC>T, L138ins, G509D, 394delTT, N1303K, W1282X, Y84X, 2143
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)
patient. Bioinformatics analysis was conducted and the most significant mutations in prostate cancer
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
Dissecting and analyzing the Subclonal Mutations Associated with Poor Prognosis in Diffuse Glioma
Bai, Ming, Wang, Xiaolong, Zhang, Huixue, Wang, Jianjian, Lyaysan, Gaysina, Xu, Si, Tian, Kuo, Wang, Tianfeng, Li, Jie, Wang, Na, Lu, Xiaoyu, Zhang, Xiaoming, Wang, Lihua (2022)
, we first performed an integrative framework to infer the clonal status of mutations in glioblastomas
TWO NOVEL MUTATIONS IN GENE SPG4 IN PATIENTS WITH AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA
Akhmetgaleyevaa, A.F., Khidiyatovaa, I.M., Saifullinac, E.V., Idrisovad, R.F., Magzhanov, R.V., Khusnutdinovaa, E.K. (2016)
in Europeans is HSP associated with mutations in the spastin gene (SPG4). Analysis of the gene SPG4 was carried
The role of pathogenic germline mutations of BRCA1/2, NBS1, and CHEK2 genes in gastric cancer development within the Volga-Ural region of Russia
Nurgalieva, A.Kh., Petrova, Sabina G., Gallyamova, Lilia F., Ekomasova, Natalia V., Sakaeva, Dina D., Fedorova, Yulia Yu, Dzhaubermezov, Murat A., Abdeev, Rustem R., Rakhimov, Radmir R., Khusnutdinova, Elza K., Prokofyeva, Darya S. (2025)
of this study was to compare the prevalence of mutations in the BRCA1 (c.68_69delAG, c.4035delA, c.5266dupC, c
Analysis of ATL1 Gene Mutations and Clinical Features of the Disease Course in Patients with Hereditary Spastic Paraplegia
Khidiyatova, I.M., Saifullina, E.V., Karunas, A.S., Akhmetgaleyeva, A.F., Kutlubaeva, R.F., Smakova, L.A., Lobov, S.L., Polyakov, A.V., Shchagina, O.A., Kadnikova, V.A., Ryzhkova, O.P., Magzhanov, R.V. (2022)
predominant lesion of the pyramidal tract. The autosomal dominant form of SPG3A, associated with mutations
Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review
Tyurin, Anton, Merkuryeva, Elena, Zaripova, Aliya, Markova, Tatyana, Nagornova, Tatyana, Dantsev, Ilya, Nadyrshina, Dina, Zakharova, Ekaterina, Khusainova, Rita (2022)
shown that a mutation (c.-14C>T) in the IFITM5 gene is responsible for autosomal dominant OI type V

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