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Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant.
Kondratyeva E, Bukharova T, Efremova A, Melyanovskaya Y, Bulatenko N, Davydenko K, Filatova A, Skoblov M, Krasovsky S, Petrova N, Polyakov A, Adyan T, Amelina E, Shadrina V, Zhekaite E, Zodbinova A, Chernyak A, Zinchenko R, Kutsev S, Goldshtein D. Kondratyeva E, et al. Among authors: amelina e. Genes (Basel). 2021 May 28;12(6):837. doi: 10.3390/genes12060837. Genes (Basel). 2021. PMID: 34071719 Free PMC article.
Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.
Ivanov M, Matsvay A, Glazova O, Krasovskiy S, Usacheva M, Amelina E, Chernyak A, Ivanov M, Musienko S, Prodanov T, Kovalenko S, Baranova A, Khafizov K. Ivanov M, et al. Among authors: amelina e. BMC Med Genomics. 2018 Feb 13;11(Suppl 1):13. doi: 10.1186/s12920-018-0328-z. BMC Med Genomics. 2018. PMID: 29504914 Free PMC article.
P.F508del editing in cells from cystic fibrosis patients.
Smirnikhina SA, Kondrateva EV, Adilgereeva EP, Anuchina AA, Zaynitdinova MI, Slesarenko YS, Ershova AS, Ustinov KD, Yasinovsky MI, Amelina EL, Voronina ES, Yakushina VD, Tabakov VY, Lavrov AV. Smirnikhina SA, et al. PLoS One. 2020 Nov 11;15(11):e0242094. doi: 10.1371/journal.pone.0242094. eCollection 2020. PLoS One. 2020. PMID: 33175893 Free PMC article.
The global impact of SARS-CoV-2 in 181 people with cystic fibrosis.
McClenaghan E, Cosgriff R, Brownlee K, Ahern S, Burgel PR, Byrnes CA, Colombo C, Corvol H, Cheng SY, Daneau G, Elbert A, Faro A, Goss CH, Gulmans V, Gutierrez H, de Monestrol I, Jung A, Justus LN, Kashirskaya N, Marshall BC, McKone E, Middleton PG, Mondejar-Lopez P, Pastor-Vivero MD, Padoan R, Rizvi S, Ruseckaite R, Salvatore M, Stephenson AL, Filho LVRDS, Melo J, Zampoli M, Carr SB; Global Registry Harmonization Group. McClenaghan E, et al. J Cyst Fibros. 2020 Nov;19(6):868-871. doi: 10.1016/j.jcf.2020.10.003. Epub 2020 Nov 4. J Cyst Fibros. 2020. PMID: 33183965 Free PMC article.
Generation of two induced pluripotent stem cell lines (RCMGi004-A and -B) from human skin fibroblasts of a cystic fibrosis patient with compound heterozygous F508del/W1282X mutations in CFTR gene.
Kondrateva E, Demchenko A, Slesarenko Y, Pozhitnova V, Yasinovsky M, Amelina E, Tabakov V, Voronina E, Lavrov A, Smirnikhina S. Kondrateva E, et al. Among authors: amelina e. Stem Cell Res. 2021 Apr;52:102232. doi: 10.1016/j.scr.2021.102232. Epub 2021 Feb 10. Stem Cell Res. 2021. PMID: 33607467 Free article.
Incidence of SARS-CoV-2 in people with cystic fibrosis in Europe between February and June 2020.
Naehrlich L, Orenti A, Dunlevy F, Kasmi I, Harutyunyan S, Pfleger A, Keegan S, Daneau G, Petrova G, Tješić-Drinković D, Yiallouros P, Bilkova A, Olesen HV, Burgel PR, Parulava T, Diamantea F, Párniczky A, McKone EF, Mei-Zahav M, Salvatore M, Colombo C, Aleksejeva E, Malakauskas K, Schlesser M, Fustik S, Turcu O, Zomer-van Ommen D, Wathne AS, Woźniacki Ł, Pereira L, Pop L, Kashirskaya N, Rodić M, Kayserova H, Krivecs U, Mondejar-Lopez P, de Monestrol I, Dogru D, Makukh H, Cosgriff R, van Koningsbruggen-Rietschel S, Jung A; European Cystic Fibrosis COVID project group. Naehrlich L, et al. J Cyst Fibros. 2021 Jul;20(4):566-577. doi: 10.1016/j.jcf.2021.03.017. Epub 2021 Apr 18. J Cyst Fibros. 2021. PMID: 34016559 Free PMC article.
51 results