Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Ksenia Davydenko"'
Autor:
Elena Kondratyeva, Yuliya Melyanovskaya, Nataliya Bulatenko, Ksenia Davydenko, Alexandra Filatova, Anna Efremova, Mikhail Skoblov, Tatiana Bukharova, Viktoriya Sherman, Anna Voronkova, Elena Zhekaite, Stanislav Krasovskiy, Elena Amelina, Nika Petrova, Alexander Polyakov, Tagui Adyan, Marina Starinova, Maria Krasnova, Andrey Vasilyev, Oleg Makhnach, Rena Zinchenko, Sergey Kutsev, Yasemin Gokdemir, Bülent Karadag, Dmitry Goldshtein
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 7, p 6351 (2023)
The pathogenic variant E92K (c.274G > A) of the CFTR gene is rare in America and Europe, but it is common for people with cystic fibrosis from Russia and Turkey. We studied the effect of the E92K genetic variant on the CFTR function. The function of
Externí odkaz:
https://doaj.org/article/da264e9fbbfb443192dbbcd9d83b7180
Autor:
Elena Kondratyeva, Tatyana Bukharova, Anna Efremova, Yuliya Melyanovskaya, Natalia Bulatenko, Ksenia Davydenko, Alexandra Filatova, Mikhail Skoblov, Stanislav Krasovsky, Nika Petrova, Alexander Polyakov, Tagui Adyan, Elena Amelina, Vera Shadrina, Elena Zhekaite, Aysa Zodbinova, Alexander Chernyak, Rena Zinchenko, Sergei Kutsev, Dmitry Goldshtein
Publikováno v:
Genes, Vol 12, Iss 6, p 837 (2021)
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 to the Russian CF Patient
Externí odkaz:
https://doaj.org/article/b2556ae81ed643548a1e75dac99f0535
Autor:
V. V. Shadrina, Elena Zhekaite, Alexander Vladimirovich Chernyak, Alexander V. Polyakov, S. I. Kutsev, Mikhail Skoblov, Elena Kondratyeva, Yuliya Melyanovskaya, Rena A. Zinchenko, D. V. Goldshtein, Elena Amelina, Tatyana Borisovna Bukharova, Anna Sergeevna Efremova, Tagui Avetikovna Adyan, Nika V. Petrova, Aysa Zodbinova, S. Krasovsky, Alexandra Filatova, Ksenia Davydenko, Natalia Bulatenko
Publikováno v:
Genes
Genes, Vol 12, Iss 837, p 837 (2021)
Genes, Vol 12, Iss 837, p 837 (2021)
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 to the Russian CF Patient