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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
Long noncoding RNAs as promising biomarkers in cancer: long non-coding RNAs and cancer
Beylerli, O., Gareev, I., Sufianov, A., Ilyasova, T., Guang, Y. (2022)
functional proteins. They can be small, about 20 nucleotides in length, and are known as microRNAs (mi
Breast cancer risk genes - Association analysis in more than 113,000 women
Dorling, L., Carvalho, S., Allen, J., González-Neira, A., Luccarini, C., Wahlström, C., Pooley, K.A., Parsons, M.T., Fortuno, C., Wang, Q., Bolla, M.K., Dennis, J., Bermisheva, M., Khusnutdinova, E., Prokofyeva, D., other additional authors (2021)
. In separate analyses for protein-truncating variants and rare missense variants in these genes, we estimated
ASSOCIATION OF POLYMORPHIC VARIANTS OF FTO AND MC4R GENES WITH OBESITY IN A TATAR POPULATION
Kochetova, O.V., Korytina, G.F., Akhmadishina, L.Z., Semenov, E.E., Viktorova, T.V. (2014)
-wide association studies have provided evidence that several variants of the FTO and MC4R genes are significantly
ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN
Mustafin, R.N., Bermisheva, M.A., Karunas, A.S., Akhmetshin, A.A., Monakhova, A.S., Khusnutdinova, E.K. (2025)
method. To search for the pathogenic variants we found in publications by other authors, we analyzed
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 Polymorphic Variants of Gene Components of the PTEN/PI3K/AKT Signaling Pathway in the Development of Prostate Cancer
Gilyazova, I.R., Ivanova, E.A., Bermisheva, M.A., Loginova, M.V., Asadullina, D.D., Ishemgulov, R.R., Mustafin, A.T., Pavlov, V.N., Khusnutdinova, E.K. (2022)
The Role of Polymorphic Variants of Gene Components of the PTEN/PI3K/AKT Signaling Pathway
ОСОБЕННОСТИ ПОЛИМОРФИЗМА ГЕНОВ РЕНИН-АНГИОТЕНЗИНОВОЙ СИСТЕМЫ У НЕДОНОШЕННЫХ НОВОРОЖДЕННЫХ
FEATURES OF GENE POLYMORPHISM OF THE RENIN-ANGIOTENSIN SYSTEM IN PREMATURE NEWBORNS
Миронов, П.И., Амирова, В.Р., Грешилов, А.А., Потехина, Т.А., Рахимова, Р.Ф., Mironov, P.I., Amirova, V.R., Greshilov, A.A., Potekhina, T.A., Rahimova, P.F. (2022)
ASSOCIATION OF 22 POTENTIAL PATHOGENIC VARIANTS OF NEW CANDIDATE GENES AND THE RISK OF OVARIAN CANCER
Mingazheva, E.T., Prokofyeva, D.S., Valova, Ya.V., Andreeva, E.A., Nurgalieva, A.Kh., Valiev, R.R., Ekomasova, N.V., Faishanova, R.R., Romanova, A.R., Khusnutdinova, E.K. (2022)
2, CHEK2 and NBN genes, potentially pathogenic genetic variants in new breast and ovarian cancer
ФАРМАКОГЕНЕТИКА БРОНХИАЛЬНОЙ АСТМЫ
PHARMACOGENETICS OF ASTHMA
САВЕЛЬЕВА, О.Н., КАРУНАС, А.С., ФЕДОРОВА, Ю.Ю., ХУСНУТДИНОВА, Э.К., Savelieva, O.N., Karunas, A.S., Fedorova, Yu.Yu., Khusnutdinova, E.K. (2019)

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