Nataliya Kashirskaya
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Explore the profile of Nataliya Kashirskaya including associated specialties, affiliations and a list of published articles.
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33
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1150
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Recent Articles
1.
Kondratyeva E, Melyanovskaya Y, Sherman V, Voronkova A, Zhekaite E, Krasovsky S, et al.
Front Genet
. 2024 Nov;
15:1383033.
PMID: 39529847
Cystic fibrosis (CF) is a genetically inherited disorder characterized by a wide range of clinical manifestations and genetic variations. This study focuses on the genetic and molecular epidemiology of CF...
2.
Semenchuk J, Naito Y, Charman S, Carr S, Cheng S, Marshall B, et al.
J Cyst Fibros
. 2024 Aug;
23(5):815-822.
PMID: 39191560
Background: Factors associated with severe COVID-19 infection have been identified; however, the impact of infection on longer-term outcomes is unclear. The objective of this study was to examine the impact...
3.
Shmarina G, Pukhalskaya D, Shmarin V, Semykin S, Avakyan L, Krasovsky S, et al.
Front Cell Infect Microbiol
. 2024 Jul;
14:1374318.
PMID: 39011515
Background: In current literature there are only scarce data on the host inflammatory response during complex (Bcc) persistence. The primary objective of the present research was to carry out cross-sectional...
4.
Efremova A, Kashirskaya N, Krasovskiy S, Melyanovskaya Y, Krasnova M, Mokrousova D, et al.
Int J Mol Sci
. 2024 Mar;
25(5).
PMID: 38474016
p.Asn1303Lys (N1303K) is a common missense variant of the gene, causing cystic fibrosis (CF). In this study, we initially evaluated the influence of modulators on the restoration of N1303K- function...
5.
Krasnova M, Efremova A, Mokrousova D, Bukharova T, Kashirskaya N, Kutsev S, et al.
J Pers Med
. 2024 Feb;
14(2).
PMID: 38392563
Complex alleles (CAs) arise when two or more nucleotide variants are present on a single allele. CAs of the gene complicate the cystic fibrosis diagnosis process, classification of pathogenic variants,...
6.
Munck A, Southern K, Murphy J, de Winter-de Groot K, Gartner S, Karadag B, et al.
Int J Neonatal Screen
. 2023 Dec;
9(4).
PMID: 38132824
Repeated European surveys of newborn bloodspot screening (NBS) have shown varied strategies for collecting missed cases, and information on data collection differs among countries/regions, hampering data comparison. The ECFS Neonatal...
7.
Castellani C, Simmonds N, Barben J, Addy C, Bevan A, Burgel P, et al.
J Cyst Fibros
. 2023 Sep;
22(6):963-968.
PMID: 37775442
There is considerable activity with respect to diagnosis in the field of cystic fibrosis (CF). This relates primarily to developments in newborn bloodspot screening (NBS), more extensive gene analysis and...
8.
Southern K, Castellani C, Lammertyn E, Smyth A, VanDevanter D, van Koningsbruggen-Rietschel S, et al.
J Cyst Fibros
. 2023 Mar;
22(1):17-30.
PMID: 36916675
Cystic fibrosis (CF) has entered the era of variant-specific therapy, tailored to the genetic variants in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. CFTR modulators, the first variant-specific therapy...
9.
Colombo C, Ramm G, Lindblad A, Corti F, Porcaro L, Alghisi F, et al.
J Cyst Fibros
. 2023 Feb;
22(2):263-265.
PMID: 36739240
Cystic-fibrosis-related liver disease (CFLD) is a variable phenotype of CF. The severe CFLD variant with cirrhosis or portal hypertension has a poor prognosis and life expectancy. CFTR modulator therapies are...
10.
Munck A, Berger D, Southern K, Carducci C, de Winter-de Groot K, Gartner S, et al.
J Cyst Fibros
. 2022 Nov;
22(3):484-495.
PMID: 36372700
Background: The aim of this study was to record the current status of newborn bloodspot screening (NBS) for CF across Europe and assess performance. Methods: Survey of representatives of NBS...