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Page 1
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: efremova a. Gene. 2020 Nov 30;761:145023. doi: 10.1016/j.gene.2020.145023. Epub 2020 Aug 3. Gene. 2020. PMID: 32758581
Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant.
Kondratyeva E, Bukharova T, Efremova A, Melyanovskaya Y, Bulatenko N, Davydenko K, Filatova A, Skoblov M, Krasovsky S, Petrova N, Polyakov A, Adyan T, Amelina E, Shadrina V, Zhekaite E, Zodbinova A, Chernyak A, Zinchenko R, Kutsev S, Goldshtein D. Kondratyeva E, et al. Among authors: efremova a. Genes (Basel). 2021 May 28;12(6):837. doi: 10.3390/genes12060837. Genes (Basel). 2021. PMID: 34071719 Free PMC article.
Evaluation of the Complex p.[Leu467Phe;Phe508del] CFTR Allele in the Intestinal Organoids Model: Implications for Therapy.
Kondratyeva E, Efremova A, Melyanovskaya Y, Voronkova A, Polyakov A, Bulatenko N, Adyan T, Sherman V, Kovalskaia V, Petrova N, Starinova M, Bukharova T, Kutsev S, Goldshtein D. Kondratyeva E, et al. Among authors: efremova a. Int J Mol Sci. 2022 Sep 8;23(18):10377. doi: 10.3390/ijms231810377. Int J Mol Sci. 2022. PMID: 36142302 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: efremova a. 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.
Recombinant Adeno-associated Viral Vectors Serotypes 6 and 9 are Able to Transduce Human Tracheal Epithelial Cells but Not Human Induced Pluripotent Stem Cells.
Belova L, Demchenko A, Kochergin-Nikitsky K, Kondrateva E, Slesarenko Y, Salikhova D, Lavrov A, Efremova A, Bukharova T, Goldshtein D, Smirnikhina S. Belova L, et al. Among authors: efremova a. Mol Biotechnol. 2023 Sep;65(9):1539-1546. doi: 10.1007/s12033-023-00668-4. Epub 2023 Jan 27. Mol Biotechnol. 2023. PMID: 36707468
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: efremova a. Int J Mol Sci. 2023 Mar 28;24(7):6351. doi: 10.3390/ijms24076351. Int J Mol Sci. 2023. PMID: 37047318 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: efremova a. Genes (Basel). 2023 Aug 28;14(9):1705. doi: 10.3390/genes14091705. Genes (Basel). 2023. PMID: 37761847 Free PMC article.
48 results