Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Nataliya Y, Kashirskaya"'
Autor:
Nika V. Petrova, Nataliya Y. Kashirskaya, Tatyana A. Vasilyeva, Natalia V. Balinova, Andrey V. Marakhonov, Elena I. Kondratyeva, Elena K. Zhekaite, Anna Y. Voronkova, Sergey I. Kutsev, Rena A. Zinchenko
Publikováno v:
BMC Genomics, Vol 23, Iss 1, Pp 1-6 (2022)
Abstract Cystic fibrosis (CF, MIM# 219,700) is an autosomal recessive disease caused by pathogenic variants within the CFTR gene. It was shown that genetic variants located in cis can affect disease severity or treatment response because of additive
Externí odkaz:
https://doaj.org/article/eb77531f08e340eab5d21864d406a302
Autor:
Nika V Petrova, Nataliya Y Kashirskaya, Tatyana A Vasilyeva, Elenai I Kondratyeva, Andrey V Marakhonov, Milan Macek Jr, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko
Publikováno v:
Journal of Medical Science, Vol 89, Iss 1 (2020)
The L138ins mutation, found in Russian cystic fibrosis (CF) patients, is a duplication of three nucleotides (CTA) in exon 4 of the CFTR gene and is categorised as a small in-frame insertion/deletion. As a result, the CFTR protein molecule elongates b
Externí odkaz:
https://doaj.org/article/a523de0ff25c4f85aab3329b90684460
Autor:
Nika V. Petrova, Nataliya Y. Kashirskaya, Tatyana A. Vasilyeva, Natalia V. Balinova, Andrey V. Marakhonov, Elena I. Kondratyeva, Elena K. Zhekaite, Anna Y. Voronkova, Sergey I. Kutsev, Rena A. Zinchenko
Publikováno v:
BMC genomics. 23(1)
Cystic fibrosis (CF, MIM# 219,700) is an autosomal recessive disease caused by pathogenic variants within the CFTR gene. It was shown that genetic variants located in cis can affect disease severity or treatment response because of additive or epista
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5af3b57cf8dc1448485c3f8b9fe31eed
https://pubmed.ncbi.nlm.nih.gov/35365085
https://pubmed.ncbi.nlm.nih.gov/35365085
Autor:
Nika V, Petrova, Nataliya Y, Kashirskaya, Tatyana A, Vasilyeva, Elena I, Kondratyeva, Elena K, Zhekaite, Anna Y, Voronkova, Victoria D, Sherman, Varvara A, Galkina, Eugeny K, Ginter, Sergey I, Kutsev, Andrey V, Marakhonov, Rena A, Zinchenko
Publikováno v:
Genes
The distribution and frequency of the CFTR gene mutations vary considerably between countries and ethnic groups. Russians are an East Slavic ethnic groups are native to Eastern Europe. Russians, the most numerous people of the Russian Federation (RF)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0c0c714598bdc612fd4ab226b2d1e328
https://pubmed.ncbi.nlm.nih.gov/32429104
https://pubmed.ncbi.nlm.nih.gov/32429104