Статті в журналах з теми "P.Phe508del-CFTR"
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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.
Glotov, Andrey S., Vyacheslav B. Chernykh, Olga A. Solovova, Aleksander V. Polyakov, Maksim Yu Donnikov, Ludmila V. Kovalenko, Yury A. Barbitoff, Yulia A. Nasykhova, Tatyana E. Lazareva, and Oleg S. Glotov. "Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples." Genes 15, no. 1 (December 27, 2023): 45. http://dx.doi.org/10.3390/genes15010045.
Kashirskaya, N., N. Petrova, A. Marakhonov, S. Kutsev, and R. Zinchenko. "646: Frequency of CFTR complex alleles associated with p.Phe508del in Russian cystic fibrosis patients." Journal of Cystic Fibrosis 20 (November 2021): S307. http://dx.doi.org/10.1016/s1569-1993(21)02069-5.
Sutanto, Erika N., Amelia Scaffidi, Luke W. Garratt, Kevin Looi, Clara J. Foo, Michela A. Tessari, Richard A. Janssen, David F. Fischer, Stephen M. Stick, and Anthony Kicic. "Assessment of p.Phe508del-CFTR functional restoration in pediatric primary cystic fibrosis airway epithelial cells." PLOS ONE 13, no. 1 (January 23, 2018): e0191618. http://dx.doi.org/10.1371/journal.pone.0191618.
Lima, Nayane Soares de, Kamilla de Faria Santos, Caroline Christine Pincela da Costa, Jéssica Barletto de Sousa Barros, and Rayana Pereira Dantas de Oliveira. "O gene CFTR e sua associação com o desenvolvimento da Fibrose Cística." Genética na Escola 16, no. 1 (January 8, 2021): 150–57. http://dx.doi.org/10.55838/1980-3540.ge.2021.363.
Кондратьева, Е. И., Ю. Л. Мельяновская, А. С. Ефремова, Н. В. Булатенко, Т. Б. Бухарова, Н. В. Петрова, А. Э. Зодьбинова, et al. "Clinical and genetic features of cystic fibrosis patients with novel pathogenic variant CFTR c.1083G> A (p.Trp361*) and functional assessment of the activity of the chloride channel." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 9() (September 30, 2019): 9–18. http://dx.doi.org/10.25557/2073-7998.2019.09.9-18.
Schucht, Sylvia, Rebecca Minso, Christiane Lex, Jochen Reiss, Frauke Stanke, Stephanie Tamm, Andrea van Barneveld, and Burkhard Tümmler. "Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon." Molecular Genetics & Genomic Medicine 7, no. 2 (January 1, 2019): e00526. http://dx.doi.org/10.1002/mgg3.526.
Stanke, Frauke, Andrea van Barneveld, Silke Hedtfeld, Stefan Wölfl, Tim Becker, and Burkhard Tümmler. "The CF-modifying gene EHF promotes p.Phe508del-CFTR residual function by altering protein glycosylation and trafficking in epithelial cells." European Journal of Human Genetics 22, no. 5 (October 9, 2013): 660–66. http://dx.doi.org/10.1038/ejhg.2013.209.
Beumer, Wouter, Jim Swildens, Teresinha Leal, Sabrina Noel, Herma Anthonijsz, Geert van der Horst, Hester Kuiperij-Boersma, et al. "Evaluation of eluforsen, a novel RNA oligonucleotide for restoration of CFTR function in in vitro and murine models of p.Phe508del cystic fibrosis." PLOS ONE 14, no. 6 (June 28, 2019): e0219182. http://dx.doi.org/10.1371/journal.pone.0219182.
Poulou, Myrto, Aspasia Destouni, Irini Fylaktou, Emmanuel Kanavakis, and Maria Tzetis. "Genotyping Efficiency of 2 Primer Sets and an Unlabeled Oligonucleotide Probe for the p.Phe508del in Exon 10 of the CFTR Gene as Determined with High-Resolution Melting Analysis." Clinical Chemistry 58, no. 10 (October 1, 2012): 1490–92. http://dx.doi.org/10.1373/clinchem.2012.189696.
Pócsi, M., Z. Fejes, Z. Bene, A. Nagy, I. Balogh, M. D. Amaral, M. Macek, and B. Nagy. "P174 Human epididymis protein 4 (HE4) plasma concentrations correlate with the improvement of ppFEV1 in response to LUM/IVA therapy in people with cystic fibrosis homozygous for p.Phe508del-CFTR." Journal of Cystic Fibrosis 22 (June 2023): S118. http://dx.doi.org/10.1016/s1569-1993(23)00549-0.
Gong, Jiafen, Gengming He, Cheng Wang, Claire Bartlett, Naim Panjwani, Scott Mastromatteo, Fan Lin, et al. "Genetic evidence supports the development of SLC26A9 targeting therapies for the treatment of lung disease." npj Genomic Medicine 7, no. 1 (April 8, 2022). http://dx.doi.org/10.1038/s41525-022-00299-9.
Dunsche, Inga, Ellen L. Raddatz, Haide Ismer, Silke Hedtfeld, Steffi Tamm, Saskia Moser, Julia Kontsendorn, et al. "Analysis of cystic fibrosis patient survival confirms STAT3 as a CF modifying gene with changing impact over time." Human Molecular Genetics, September 1, 2022. http://dx.doi.org/10.1093/hmg/ddac221.
Zampoli, M., J. Verstraete, M. Frauendorf, R. Kassanjee, L. Workman, B. M. Morrow, and H. J. Zar. "Cystic fibrosis in South Africa: spectrum of disease and determinants of outcome." ERJ Open Research, June 11, 2021, 00856–2020. http://dx.doi.org/10.1183/23120541.00856-2020.
Stanke, Frauke, Sophia T. Pallenberg, Stephanie Tamm, Silke Hedtfeld, Ella M. Eichhorn, Rebecca Minso, Gesine Hansen, et al. "Changes in cystic fibrosis transmembrane conductance regulator protein expression prior to and during elexacaftor-tezacaftor-ivacaftor therapy." Frontiers in Pharmacology 14 (January 27, 2023). http://dx.doi.org/10.3389/fphar.2023.1114584.
Bitam, Sara, Ahmad Elbahnsi, Geordie Creste, Iwona Pranke, Benoit Chevalier, Farouk Berhal, Brice Hoffmann, et al. "New insights into structure and function of bis-phosphinic acid derivatives and implications for CFTR modulation." Scientific Reports 11, no. 1 (March 25, 2021). http://dx.doi.org/10.1038/s41598-021-83240-x.
Kuek, Stephanie L., and R. John H. Massie. "Non‐pulmonary CFTR ‐related symptom improvement with ivacaftor in p.Phe508del/p. Arg117His ( 7T ) cystic fibrosis." Respirology Case Reports 11, no. 1 (December 21, 2022). http://dx.doi.org/10.1002/rcr2.1079.
Ferreira, Filipa C., Margarida D. Amaral, Mafalda Bacalhau, and Miquéias Lopes-Pacheco. "PTI-801 (posenacaftor) shares a common mechanism with VX-445 (elexacaftor) to rescue p.Phe508del-CFTR." European Journal of Pharmacology, February 2024, 176390. http://dx.doi.org/10.1016/j.ejphar.2024.176390.
El Makhzen, Nada, Houria Daimi, Laila Bouguenouch, and Hugues Abriel. "The burden of cystic fibrosis in North Africa." Frontiers in Genetics 14 (January 10, 2024). http://dx.doi.org/10.3389/fgene.2023.1295008.
Rosa, Joana, Patrícia Gaspar-Silva, Paula Pacheco, Conceição Silva, Cláudia C. Branco, Barbara S. Vieira, Alexandra Carreiro, Juan Gonçalves, and Luisa Mota-Vieira. "A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal)." BMC Pediatrics 20, no. 1 (January 3, 2020). http://dx.doi.org/10.1186/s12887-019-1903-y.
Lex, Christiane, Rebecca Minso, Nadine Alfeis, Hendrik Rosewich, Sylvia Schucht, and Burkhard Tümmler. "Clinical presentation and basic defect of the CFTR genotype p.Phe508del / p.Arg117His in a mother and her monozygous twin daughters." Journal of Cystic Fibrosis, September 2021. http://dx.doi.org/10.1016/j.jcf.2021.08.018.
Pócsi, Marianna, Zsolt Fejes, Zsolt Bene, Attila Nagy, István Balogh, Margarida D. Amaral, Milan Macek, and Béla Nagy. "Human epididymis protein 4 (HE4) plasma concentration inversely correlates with the improvement of cystic fibrosis lung disease in p.Phe508del-CFTR homozygous cases treated with the CFTR modulator lumacaftor/ivacaftor combination." Journal of Cystic Fibrosis, April 2023. http://dx.doi.org/10.1016/j.jcf.2023.04.001.
Yiallouros, Panayiotis K., Andreas Μ. Matthaiou, Pinelopi Anagnostopoulou, Panayiotis Kouis, Malgorzata Libik, Tonia Adamidi, Adonis Eleftheriou, et al. "Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry." Orphanet Journal of Rare Diseases 16, no. 1 (October 2, 2021). http://dx.doi.org/10.1186/s13023-021-02049-z.
Meneses, Daniela Gois, Fábia Regina dos Santos, Anne Jardim Botelho, Luciana Mota Bispo, Camilla Guerra Matos, Vynicius Goltran Sobral Propheta, Alexia Ferreira Rodrigues, Géssica Uruga Oliveira, Angela Maria da Silva, and Ricardo Queiroz Gurgel. "Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population." BMC Pediatrics 24, no. 1 (July 1, 2024). http://dx.doi.org/10.1186/s12887-024-04891-z.
Fischer, Sebastian, Frauke Stanke, and Burkhard Tümmler. "VJ Segment Usage of TCR-Beta Repertoire in Monozygotic Cystic Fibrosis Twins." Frontiers in Immunology 12 (February 23, 2021). http://dx.doi.org/10.3389/fimmu.2021.599133.