Publications:

Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del].

Current Issues In Molecular Biology

Kondratyeva, Elena E; Bulatenko, Nataliya N; Melyanovskaya, Yuliya Y; Efremova, Anna A; Zhekaite, Elena E; Sherman, Viktoriya V; Voronkova, Anna A; Asherova, Irina I; Polyakov, Alexander A; Adyan, Tagui T; Kovalskaia, Valeriia V; Bukharova, Tatiana T; Goldshtein, Dmitry D; Kutsev, Sergey S

Publication Date: 2022-10-21

Variant appearance in text: CFTR: 831G>A; Trp277*

PubMed Link: 36286063

Variant Present in the following documents:

• cimb-44-00349.pdf

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Evaluation of the Complex p.[Leu467Phe;Phe508del] CFTR Allele in the Intestinal Organoids Model: Implications for Therapy.

International Journal Of Molecular Sciences

Kondratyeva, Elena E; Efremova, Anna A; Melyanovskaya, Yuliya Y; Voronkova, Anna A; Polyakov, Alexander A; Bulatenko, Nataliya N; Adyan, Tagui T; Sherman, Viktoriya V; Kovalskaia, Valeriia V; Petrova, Nika N; Starinova, Marina M; Bukharova, Tatiana T; Kutsev, Sergei S; Goldshtein, Dmitry D

Publication Date: 2022-09-08

Variant appearance in text: CFTR: 831G>A; Trp277*

PubMed Link: 36142302

Variant Present in the following documents:

• ijms-23-10377.pdf

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Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

Genes

Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Vasilyeva, Tatyana A TA; Kondratyeva, Elena I EI; Zhekaite, Elena K EK; Voronkova, Anna Y AY; Sherman, Victoria D VD; Galkina, Varvara A VA; Ginter, Eugeny K EK; Kutsev, Sergey I SI; Marakhonov, Andrey V AV; Zinchenko, Rena A RA

Publication Date: 2020-05-15

Variant appearance in text: CFTR: 831G>A

PubMed Link: 32429104

Variant Present in the following documents:

• Main text
• genes-11-00554.pdf

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Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants.

The Application Of Clinical Genetics

Sánchez, Karen K; de Mendonca, Elizabeth E; Matute, Xiorama X; Chaustre, Ismenia I; Villalón, Marlene M; Takiff, Howard H

Publication Date: 2016

Variant appearance in text: CFTR: Trp277*

PubMed Link: 27022295

Variant Present in the following documents:

• Main text
• tacg-9-033.pdf

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