Search Results - "Bulatenko, N."

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 by Kondratyeva, E., Efremova, A., Melyanovskaya, Yu, Petrova, N., Satsuk, N., Bulatenko, N., Bukharova, T., Zodbinova, A., Sherman, V., Kashirskaya, N., Zinchenko, R., Kutsev, S., Goldshtein, D.

“…•The study results showed c.831G>A in the genotype matches to the severe course of CF.•Using ICM, FIS assay in intestinal organoids confirmed the absence of…”
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Comparative Analysis of the Paracrine Action of Neuronal and Glial Progenitor Cells Derived from Induced Human Pluripotent Stem Cells by Salikhova, D. I., Leonov, G. E., Bukharova, T. B., Bulatenko, N. V., Efremovа, A. S., Makhnach, O. V., Makarov, A. V., Fatkhudinov, T. H., Goldshtein, D. V.

“…We performed comparative analysis of paracrine activity of neuronal and glial progenitors derived from induced pluripotent stem cells under conditions of…”
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A clinical case of cystic fibrosis patient with pathogenic N1303K genotype variant with assessment of the CFTR channel function by intestinal current measurement and forskolin-induced swelling in rectal organoids by Kondratyeva, E. I., Odinaeva, N. D., Sherman, V. D., Efremova, A. S., Melyanovskaya, Yu. L., Bulatenko, N. V., Bukharova, T. B., Goldshtein, D. V.

“…Rationale : Cystic fibrosis is a common monogenic disease related to pathogenic nucleotide sequence variants in the Cystic Fibrosis Transmembrane conductance…”
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P016 The effect of complex alleles p.[L467F;F508del] and p.[S466X;R1070Q] of the CFTR gene on the effectiveness of targeted therapy in patients with cystic fibrosis by Krasnova, M., Kondratyeva, E., Voronkova, A., Zhekaite, E., Bulatenko, N., Mokrousova, D., Kutsev, S., Goldshtein, D.

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P072 Study of the new complex allele [E217G;G509D] of the CFTR gene by Kondratyeva, E., Bulatenko, N., Melyanoskaya, Y., Efremova, A., Bukharova, T., Krasnova, M., Yanova, T., Goldshtein, D.

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P022 Elexacaftor/tezacaftor/ivacaftor restore the function of the CFTR channel in patients with the genetic variant 3272-16T>A (c.3140-16T>A) by Zhekaite, E., Bulatenko, N., Kondratyeva, E., Melyanovskaya, Y., Simanova, T., Krasnova, M., Efremova, A., Voronkova, A., Bukharova, T., Goldshtein, D.

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651: Difficulties in prescribing targeted drugs in a cystic fibrosis patient with genotype p.[Phe508del]:[Phe508del-Leu467Phe] by Kondratyeva, E., Melyanovskaya, Y., Adyan, T., Bulatenko, N., Efremova, A., Goldshtein, D., Kutsev, S.

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P047 Selection of CFTR modulators for children carrying the genetic variant W1282R by Kondratyeva, E., Voronkova, A., Bulatenko, N., Melyanovskaya, Y., Efremova, A., Bukharova, T., Kutsev, S., de Jonge, H., Petrova, N., Goldshtein, D.

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WS13-5 The investigation of VX-809 and VX-770 effects on CFTR channel function in c.[4262T>A];[1521_1523delCTT] (V1421E/F508del) genotype using an intestinal organoid culture by Efremova, A., Kashirskaya, N., Bukharova, T., Bulatenko, N., Petrova, N., Zhekaite, E., Kondratyeva, E., Zinchenko, R., Goldshtein, D., Kutsev, S.

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P009 Clinical and genetic characteristics of cystic fibrosis patients carrying pathogenic variant c.1083G> A (p.Trp361) by Kondratyeva, E., Melyanovskaya, Y., Efremova, A., Bulatenko, N., Bukharova, T., Petrova, N., Zodbinova, A., Sherman, V., Kashirskaya, N., Ledneva, V., Ulyanova, L., Zinchenko, R., Goldshtein, D., Kutsev, S.

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