Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Nika Petrova"'
Autor:
Nika Petrova, Inna Tebieva, Vitaly Kadyshev, Zalina Getoeva, Natalia Balinova, Andrey Marakhonov, Tatyana Vasilyeva, Evgeny Ginter, Sergey Kutsev, Rena Zinchenko
Publikováno v:
PeerJ, Vol 11, p e14514 (2023)
More than 50% of congenital hearing loss is hereditary, in which the majority form is non-syndromic. In this study we estimate the most prevalent pathogenic genetic changes in an Ossetian cohort of patients. This is useful for local public health off
Externí odkaz:
https://doaj.org/article/ab45bd4b32a24214b6d57e47e6f6377c
Autor:
Elena Kondratyeva, Yuliya Melyanovskaya, Anna Efremova, Mariya Krasnova, Diana Mokrousova, Nataliya Bulatenko, Nika Petrova, Alexander Polyakov, Tagui Adyan, Valeriia Kovalskaia, Tatiana Bukharova, Andrey Marakhonov, Rena Zinchenko, Elena Zhekaite, Artem Buhonin, Dmitry Goldshtein
Publikováno v:
Genes, Vol 14, Iss 9, p 1705 (2023)
The intricate nature of complex alleles presents challenges in the classification of CFTR gene mutations, encompassing potential disease-causing, neutral, or treatment-modulating effects. Notably, the complex allele [E217G;G509D] remains absent from
Externí odkaz:
https://doaj.org/article/8fbe982ee2f74cb1a25d83a6af387fce
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 17, p 13518 (2023)
A novel group of conjugative plasmids of Pseudomonas is characterized. The prototype plasmid pPPUT-Tik1-1 (153,663 bp), isolated from a permafrost strain of P. putida Tik1, carries a defective mercury transposon, Tn501, and a streptomycin resistance
Externí odkaz:
https://doaj.org/article/d6f0d621c4ab4786b4d0bd25dfd34530
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, Anna Efremova, Yuliya Melyanovskaya, Anna Voronkova, Alexander Polyakov, Nataliya Bulatenko, Tagui Adyan, Viktoriya Sherman, Valeriia Kovalskaia, Nika Petrova, Marina Starinova, Tatiana Bukharova, Sergei Kutsev, Dmitry Goldshtein
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 18, p 10377 (2022)
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 frequency evaluation of the [L467F;F508del]
Externí odkaz:
https://doaj.org/article/c7e4c795075d4bbd90a96d53728b26af
Autor:
Nika Petrova, Natalia Balinova, Andrey Marakhonov, Tatyana Vasilyeva, Nataliya Kashirskaya, Varvara Galkina, Evgeniy Ginter, Sergey Kutsev, Rena Zinchenko
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Cystic fibrosis (CF) is a common monogenic disease caused by pathogenic variants in the CFTR gene. The distribution and frequency of CFTR variants vary in different countries and ethnic groups. The spectrum of pathogenic variants of the CFTR gene was
Externí odkaz:
https://doaj.org/article/796eba6632824af0b85d51231d6a7c3a
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
Publikováno v:
Pediatria. Journal named after G.N. Speransky. 101:153-157
Sirenomelia is a rare congenital malformation with lesions of the lower spine and pelvic organs in combination with the fusion of the lower extremities. The cause of sirenomelia is unknown. The aim of this work was to describe the clinical case of si
Publikováno v:
Voprosy Sovremennoj Pediatrii, Vol 20, Iss 6s, Pp 558-566 (2021)
Cystic fibrosis is an autosomal recessive disease caused by structure abnormalities in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It is characterized by severe course and poor prognosis without or with insufficient treatment
Publikováno v:
Voprosy detskoj dietologii. 18:65-74