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The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin
Subbotin, Dmitrii, Ionova, Sofya, Marakhonov, Andrey, Saifullina, Elena, Borovikov, Artem, Akhmadeeva, Leila, Chausova, Polina, Ryzhkova, Oksana, Zinchenko, Rena, Kutsev, Sergey, Murtazina, Aysylu (2024)
_170delinsTT (p.(Ala57Phe)) variant in the GNE gene (NM_001128227.3) among different ethnic populations (Mari
Widespread natural selection on metabolite levels in humans
Timasheva, Yanina, Lepik, Kaido, Liska, Orsolya, Papp, Balázs, Kutalik, Zoltán (2024)
variants associated with traits under selection. The genetic signatures of such evolutionary events can
Germline Variants in Proto-Oncogenes and Tumor Suppressor Genes in Women with Cervical Cancer
Lenkova, Ksenia, Khusainova, Rita, Minyazeva, Raushaniya, Zaripova, Aliya, Gilyazova, Irina, Mokrysheva, Natalia, Minniakhmetov, Ildar (2024)
pathogenesis. This study aimed to investigate germline variants in proto-oncogenes and tumor suppressor genes
Rare Variants of the SMN1 Gene Detected during Neonatal Screening
Akhkiamova, Maria, Polyakov, Aleksander, Marakhonov, Andrey, Voronin, Sergey, Saifullina, Elena, Vafina, Zulfiia, Michalchuk, Kristina, Braslavskaya, Svetlana, Chukhrova, Alena, Ryadninskaya, Nina, Kutsev, Sergey, Shchagina, Olga (2024)
by the presence of either a c.835-18C>T intronic variant or a c.842G>C p.(Arg281Thr) missense variant in the SMN1
THE ROLE OF MTHFR AND MTRR GENE POLYMORPHISMS IN THE DEVELOPMENT OF CHOLELITHIASIS
Fedorova, Yu. Yu., Nurgalieva, A.K., Petrova, S.G., Murzina, R.R., Dzhaubermezov, M.A., Ekomasova, N.V., Khusnutdinova, E.K., Prokofieva, D.S. (2024)
was to analyze the association of polymorphic variants of the methylenetetrahydrofolate reductase MTHFR (rs
Study of the Role of Genes Involved in the Metabolism of Histamine in the Development of Allergic Respiratory Diseases
Savelieva, O.N., Karunas, A.S., Biktasheva, A.R., Vlasova, A.O., Khidiyatova, I.M., Etkina, E.I., Khusnutdinova, E.K. (2024)
reactions. The aim of the research was to study the role of polymorphic variants of the AOC1, HRH2, HRH3
Genetic variants in UNC93B1 predispose to childhood-onset systemic lupus erythematosus
Al-Azab, Mahmoud, Idiiatullina, Elina, Liu, Ziyang, Lin, Meng, Hrovat-Schaale, Katja, Xian, Huifang, Zhu, Jianheng, Yang, Mandy, Lu, Bingtai, Zhao, Zhiyao, Liu, Yiyi, Chang, Jingjie, Li, Xiaotian, Guo, Caiqin, Liu, Yunfeng, Wu, Qi, Chen, Jiazhang, Lan, Chaoting, Zeng, Ping, Cui, Jun, Gao, Xia, Zhou, Wenhao, Zhang, Yan, Zhang, Yuxia, Masters, Seth L. (2024)
Rare genetic variants in toll-like receptor 7 (TLR7) are known to cause lupus in humans and mice
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)
of the sample. Results: A total of 35 distinct causal variants were found in 139 cases from 129 families. Five
MicroRNA binding site variants–new potential markers of primary osteoporosis in men and women
Yalaev, Bulat, Deev, Roman, Tyurin, Anton, Salakhov, Ramil, Smirnov, Kirill, Eremkina, Anna, Mokrysheva, Natalia, Minniakhmetov, Ildar, Khusainova, Rita (2024)
with microRNAs. Methods: The authors searched for associations of polymorphic variants of microRNA binding
PREDICTING THE RISK OF DEVELOPING VIBRATION DISEASE AND VEGETATIVE-SENSORY POLYNEUROPATHY UNDER VIBRATION EXPOSURE USING ANALYSIS OF CANDIDATE GENE POLYMORPHISM
Mukhammadiyeva, G.F., Shaikhlislamova, E.R., Karimov, D.D., Karimov, D.O., Repina, E.F., Yakupova, T.G., Kudoyarov, E.R. (2024)
variants were determined using a real-time polymerase chain reaction. The polymorphic variant rs16944

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