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Clinical and genetic characterization of patients with cystic fibrosis and functional assessment of the chloride channel with the pathogenic variant c.831G>A (p.Trp277*), described for the first time.
Kondratyeva E, Efremova A, Melyanovskaya Y, Petrova N, Satsuk N, Bulatenko N, Bukharova T, Zodbinova A, Sherman V, Kashirskaya N, Zinchenko R, Kutsev S, Goldshtein D. Kondratyeva E, et al. Among authors: melyanovskaya y. Gene. 2020 Nov 30;761:145023. doi: 10.1016/j.gene.2020.145023. Epub 2020 Aug 3. Gene. 2020. PMID: 32758581
Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.
Kondratyeva E, Melyanovskaya Y, Sherman V, Voronkova A, Zhekaite E, Krasovsky S, Amelina E, Kashirskaya N, Shadrina V, Polyakov A, Adyan T, Sсhagina O, Starinova M, Enina E, Vasilyev A, Marakhonov A, Zinchenko R, Kutsev S. Kondratyeva E, et al. Among authors: melyanovskaya y. Front Genet. 2024 Oct 28;15:1383033. doi: 10.3389/fgene.2024.1383033. eCollection 2024. Front Genet. 2024. PMID: 39529847 Free PMC article.
Estimation of Chloride Channel Residual Function and Assessment of Targeted Drugs Efficiency in the Presence of a Complex Allele [L467F;F508del] in the CFTR Gene.
Efremova A, Melyanovskaya Y, Krasnova M, Voronkova A, Mokrousova D, Zhekaite E, Bulatenko N, Makhnach O, Bukharova T, Kutsev S, Goldshtein D, Kondratyeva E. Efremova A, et al. Among authors: melyanovskaya y. Int J Mol Sci. 2024 Sep 27;25(19):10424. doi: 10.3390/ijms251910424. Int J Mol Sci. 2024. PMID: 39408749 Free PMC article.
Comprehensive Assessment of CFTR Modulators' Therapeutic Efficiency for N1303K Variant.
Efremova A, Kashirskaya N, Krasovskiy S, Melyanovskaya Y, Krasnova M, Mokrousova D, Bulatenko N, Kondratyeva E, Makhnach O, Bukharova T, Zinchenko R, Kutsev S, Goldshtein D. Efremova A, et al. Among authors: melyanovskaya y. Int J Mol Sci. 2024 Feb 27;25(5):2770. doi: 10.3390/ijms25052770. Int J Mol Sci. 2024. PMID: 38474016 Free PMC article.
Clinical and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel.
Kondratyeva E, Melyanovskaya Y, Efremova A, Krasnova M, Mokrousova D, Bulatenko N, Petrova N, Polyakov A, Adyan T, Kovalskaia V, Bukharova T, Marakhonov A, Zinchenko R, Zhekaite E, Buhonin A, Goldshtein D. Kondratyeva E, et al. Among authors: melyanovskaya y. Genes (Basel). 2023 Aug 28;14(9):1705. doi: 10.3390/genes14091705. Genes (Basel). 2023. PMID: 37761847 Free PMC article.
Clinical and Functional Characteristics of the E92K CFTR Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis.
Kondratyeva E, Melyanovskaya Y, Bulatenko N, Davydenko K, Filatova A, Efremova A, Skoblov M, Bukharova T, Sherman V, Voronkova A, Zhekaite E, Krasovskiy S, Amelina E, Petrova N, Polyakov A, Adyan T, Starinova M, Krasnova M, Vasilyev A, Makhnach O, Zinchenko R, Kutsev S, Gokdemir Y, Karadag B, Goldshtein D. Kondratyeva E, et al. Among authors: melyanovskaya y. Int J Mol Sci. 2023 Mar 28;24(7):6351. doi: 10.3390/ijms24076351. Int J Mol Sci. 2023. PMID: 37047318 Free PMC article.
Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del].
Kondratyeva E, Bulatenko N, Melyanovskaya Y, Efremova A, Zhekaite E, Sherman V, Voronkova A, Asherova I, Polyakov A, Adyan T, Kovalskaia V, Bukharova T, Goldshtein D, Kutsev S. Kondratyeva E, et al. Among authors: melyanovskaya y. Curr Issues Mol Biol. 2022 Oct 21;44(10):5126-5138. doi: 10.3390/cimb44100349. Curr Issues Mol Biol. 2022. PMID: 36286063 Free PMC article.
14 results