Добірка наукової літератури з теми "P.Phe508del-CFTR"
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Статті в журналах з теми "P.Phe508del-CFTR":
Dekkers, Johanna F., Ricardo A. Gogorza Gondra, Evelien Kruisselbrink, Annelotte M. Vonk, Hettie M. Janssens, Karin M. de Winter-de Groot, Cornelis K. van der Ent, and Jeffrey M. Beekman. "Optimal correction of distinct CFTR folding mutants in rectal cystic fibrosis organoids." European Respiratory Journal 48, no. 2 (April 21, 2016): 451–58. http://dx.doi.org/10.1183/13993003.01192-2015.
Santinelli, Raphaël, Nathalie Benz, Julie Guellec, Fabien Quinquis, Ervin Kocas, Johan Thomas, Tristan Montier, et al. "The Inhibition of the Membrane-Bound Transcription Factor Site-1 Protease (MBTP1) Alleviates the p.Phe508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Defects in Cystic Fibrosis Cells." Cells 13, no. 2 (January 18, 2024): 185. http://dx.doi.org/10.3390/cells13020185.
Trouvé, Pascal, Claude Férec, and Emmanuelle Génin. "The Interplay between the Unfolded Protein Response, Inflammation and Infection in Cystic Fibrosis." Cells 10, no. 11 (November 2, 2021): 2980. http://dx.doi.org/10.3390/cells10112980.
de Faria Poloni, Joice, Thaiane Rispoli, Maria Lucia Rossetti, Cristiano Trindade, and José Eduardo Vargas. "Cystic Fibrosis: Systems Biology Analysis from Homozygous p.Phe508del Variant Patients’ Samples Reveals Perturbations in Tissue-Specific Pathways." BioMed Research International 2021 (December 2, 2021): 1–16. http://dx.doi.org/10.1155/2021/5262000.
Tabaripour, Reza, Haleh Akhavan Niaki, Mohammad Reza Esmaeeli Douki, Javad Tavakkoly Bazzaz, Bagher Larijani, and Parichehr Yaghmaei. "Poly Thymidine Polymorphism and Cystic Fibrosis in a Non-Caucasian Population." Disease Markers 32, no. 4 (2012): 241–46. http://dx.doi.org/10.1155/2012/910729.
Viart, Victoria, Anne Bergougnoux, Jennifer Bonini, Jessica Varilh, Raphaël Chiron, Olivier Tabary, Nicolas Molinari, Mireille Claustres, and Magali Taulan-Cadars. "Transcription factors and miRNAs that regulate fetal to adult CFTR expression change are new targets for cystic fibrosis." European Respiratory Journal 45, no. 1 (September 3, 2014): 116–28. http://dx.doi.org/10.1183/09031936.00113214.
Gramegna, Andrea, Martina Contarini, Stefano Aliberti, Rosaria Casciaro, Francesco Blasi, and Carlo Castellani. "From Ivacaftor to Triple Combination: A Systematic Review of Efficacy and Safety of CFTR Modulators in People with Cystic Fibrosis." International Journal of Molecular Sciences 21, no. 16 (August 16, 2020): 5882. http://dx.doi.org/10.3390/ijms21165882.
Chernykh, Vyacheslav, Stanislav Krasovsky, Olga Solovova, Tagui Adyan, Anna Stepanova, Ekaterina Marnat, Maria Shtaut, et al. "Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome." International Journal of Molecular Sciences 24, no. 22 (November 14, 2023): 16287. http://dx.doi.org/10.3390/ijms242216287.
Mekki, Chadia, Abdel Aissat, Véronique Mirlesse, Sophie Mayer Lacrosniere, Elsa Eche, Annick Le Floch, Sandra Whalen, et al. "Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?" Genes 12, no. 5 (April 29, 2021): 670. http://dx.doi.org/10.3390/genes12050670.
Neocleous, Vassos, Panayiotis K. Yiallouros, George A. Tanteles, Constantina Costi, Maria Moutafi, Phivos Ioannou, Philippos C. Patsalis, Carolina Sismani, and Leonidas A. Phylactou. "Apparent Homozygosity of p.Phe508del inCFTRdue to a Large Gene Deletion of Exons 4–11." Case Reports in Genetics 2014 (2014): 1–4. http://dx.doi.org/10.1155/2014/613863.
Дисертації з теми "P.Phe508del-CFTR":
Santinelli, Raphaël. "Inhibition de la voie ATF6 de la réponse aux protéines mal formées comme nouvelle approche thérapeutique dans le cadre de la mucoviscidose." Electronic Thesis or Diss., Brest, 2024. http://www.theses.fr/2024BRES0009.
Cystic fibrosis is the most common lethal autosomal recessive genetic disease in the European population. It is caused by mutations in the CFTR gene, the most common of which is the deletion of a phenylalanine at position 508 of the protein's polypeptide sequence (p.Phe508del- CFTR). These mutations alter the viscosity of the mucus present on the apical surface of epithelial cells in the respiratory, digestive and genital systems. This leads to a reduction in mucociliary clearance, making it difficult to renew the mucus that forms the first protective barrier against the development of potentially pathogenic micro- organisms. As a result, inflammatory and infectious responses are triggered. By adding the accumulation of misfolded proteins in the lumen of the ER, the UPR adaptive defence mechanism is triggered. ATF6 is one of its three regulatory pathways. ATF6 has been shown to inhibit CFTR expression. The aim of this thesis project is to evaluate the effects of inhibiting S1P, a protein central for the activation of ATF6, on p.Phe508del-CFTR by pharmacological means. The results show that Cl- ion efflux linked to the activity of the p.Phe508del-CFTR channel is increased through an increase in the overall expression and transport of this channel to the plasma membrane. We also give some possible explanations for these beneficial effects, in particular in relation to the triggering of the UPS, a pathway that allows mutated proteins to be transported to the plasma membrane