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Tagui Adyan

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Articles 8
Citations 32
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Recent Articles
1.
Kondratyeva E, Melyanovskaya Y, Sherman V, Voronkova A, Zhekaite E, Krasovsky S, et al.
Front Genet . 2024 Nov; 15:1383033. PMID: 39529847
Cystic fibrosis (CF) is a genetically inherited disorder characterized by a wide range of clinical manifestations and genetic variations. This study focuses on the genetic and molecular epidemiology of CF...
2.
Chernykh V, Krasovsky S, Solovova O, Adyan T, Stepanova A, Marnat E, et al.
Int J Mol Sci . 2023 Nov; 24(22). PMID: 38003474
Pathogenic variants cause cystic fibrosis (CF), and CF-related disorders (CF-RD), including bilateral aplasia of the vas deferens (CBAVD). The spectrum of clinical manifestations depends on the genotype. The frequency and...
3.
Kondratyeva E, Melyanovskaya Y, Efremova A, Krasnova M, Mokrousova D, Bulatenko N, et al.
Genes (Basel) . 2023 Sep; 14(9). PMID: 37761847
The intricate nature of complex alleles presents challenges in the classification of gene mutations, encompassing potential disease-causing, neutral, or treatment-modulating effects. Notably, the complex allele [E217G;G509D] remains absent from international...
4.
Chernykh V, Sorokina T, Sedova A, Shtaut M, Solovova O, Marnat E, et al.
Genes (Basel) . 2023 Jul; 14(7). PMID: 37510311
(1) Introduction: Pathogenic variants in the (Cystic Fibrosis Transmembrane conductance Regulator, OMIM: 602421) gene cause Cystic Fibrosis (CF, OMIM: 219700) and CF-related disorders (CF-RD), often accompanied by obstructive azoospermia due...
5.
Kondratyeva E, Melyanovskaya Y, Bulatenko N, Davydenko K, Filatova A, Efremova A, et al.
Int J Mol Sci . 2023 Apr; 24(7). PMID: 37047318
The pathogenic variant E92K (c.274G > A) of the gene is rare in America and Europe, but it is common for people with cystic fibrosis from Russia and Turkey. We...
6.
Kondratyeva E, Bulatenko N, Melyanovskaya Y, Efremova A, Zhekaite E, Sherman V, et al.
Curr Issues Mol Biol . 2022 Oct; 44(10):5126-5138. PMID: 36286063
The presence of complex alleles in the CFTR gene can lead to difficulties in diagnosing cystic fibrosis and cause resistance to therapy with CFTR modulators. Tezacaftor/ivacaftor therapy for 8 months...
7.
Kondratyeva E, Efremova A, Melyanovskaya Y, Voronkova A, Polyakov A, Bulatenko N, et al.
Int J Mol Sci . 2022 Sep; 23(18). PMID: 36142302
In the cohort of Russian patients with cystic fibrosis, the p.[Leu467Phe;Phe508del] complex allele (legacy name [L467F;F508del]) of the CFTR gene is understudied. In this research, we present the results of...
8.
Kondratyeva E, Bukharova T, Efremova A, Melyanovskaya Y, Bulatenko N, Davydenko K, et al.
Genes (Basel) . 2021 Jun; 12(6). PMID: 34071719
Cystic fibrosis (CF) is the most common monogenic autosomal recessive disease, associated with pathogenic variants in the CFTR gene. The splicing variant c.3140-16T>A (3272-16T>A) has been described previously and, according...