Artykuły w czasopismach na temat „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 i Jeffrey M. Beekman. "Optimal correction of distinct CFTR folding mutants in rectal cystic fibrosis organoids". European Respiratory Journal 48, nr 2 (21.04.2016): 451–58. http://dx.doi.org/10.1183/13993003.01192-2015.
Pełny tekst źródłaSantinelli, Raphaël, Nathalie Benz, Julie Guellec, Fabien Quinquis, Ervin Kocas, Johan Thomas, Tristan Montier i in. "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, nr 2 (18.01.2024): 185. http://dx.doi.org/10.3390/cells13020185.
Pełny tekst źródłaTrouvé, Pascal, Claude Férec i Emmanuelle Génin. "The Interplay between the Unfolded Protein Response, Inflammation and Infection in Cystic Fibrosis". Cells 10, nr 11 (2.11.2021): 2980. http://dx.doi.org/10.3390/cells10112980.
Pełny tekst źródłade Faria Poloni, Joice, Thaiane Rispoli, Maria Lucia Rossetti, Cristiano Trindade i 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 (2.12.2021): 1–16. http://dx.doi.org/10.1155/2021/5262000.
Pełny tekst źródłaTabaripour, Reza, Haleh Akhavan Niaki, Mohammad Reza Esmaeeli Douki, Javad Tavakkoly Bazzaz, Bagher Larijani i Parichehr Yaghmaei. "Poly Thymidine Polymorphism and Cystic Fibrosis in a Non-Caucasian Population". Disease Markers 32, nr 4 (2012): 241–46. http://dx.doi.org/10.1155/2012/910729.
Pełny tekst źródłaViart, Victoria, Anne Bergougnoux, Jennifer Bonini, Jessica Varilh, Raphaël Chiron, Olivier Tabary, Nicolas Molinari, Mireille Claustres i 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, nr 1 (3.09.2014): 116–28. http://dx.doi.org/10.1183/09031936.00113214.
Pełny tekst źródłaGramegna, Andrea, Martina Contarini, Stefano Aliberti, Rosaria Casciaro, Francesco Blasi i 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, nr 16 (16.08.2020): 5882. http://dx.doi.org/10.3390/ijms21165882.
Pełny tekst źródłaChernykh, Vyacheslav, Stanislav Krasovsky, Olga Solovova, Tagui Adyan, Anna Stepanova, Ekaterina Marnat, Maria Shtaut i in. "Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome". International Journal of Molecular Sciences 24, nr 22 (14.11.2023): 16287. http://dx.doi.org/10.3390/ijms242216287.
Pełny tekst źródłaMekki, Chadia, Abdel Aissat, Véronique Mirlesse, Sophie Mayer Lacrosniere, Elsa Eche, Annick Le Floch, Sandra Whalen i in. "Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?" Genes 12, nr 5 (29.04.2021): 670. http://dx.doi.org/10.3390/genes12050670.
Pełny tekst źródłaNeocleous, Vassos, Panayiotis K. Yiallouros, George A. Tanteles, Constantina Costi, Maria Moutafi, Phivos Ioannou, Philippos C. Patsalis, Carolina Sismani i 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.
Pełny tekst źródłaGlotov, 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 i Oleg S. Glotov. "Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples". Genes 15, nr 1 (27.12.2023): 45. http://dx.doi.org/10.3390/genes15010045.
Pełny tekst źródłaKashirskaya, N., N. Petrova, A. Marakhonov, S. Kutsev i R. Zinchenko. "646: Frequency of CFTR complex alleles associated with p.Phe508del in Russian cystic fibrosis patients". Journal of Cystic Fibrosis 20 (listopad 2021): S307. http://dx.doi.org/10.1016/s1569-1993(21)02069-5.
Pełny tekst źródłaSutanto, Erika N., Amelia Scaffidi, Luke W. Garratt, Kevin Looi, Clara J. Foo, Michela A. Tessari, Richard A. Janssen, David F. Fischer, Stephen M. Stick i Anthony Kicic. "Assessment of p.Phe508del-CFTR functional restoration in pediatric primary cystic fibrosis airway epithelial cells". PLOS ONE 13, nr 1 (23.01.2018): e0191618. http://dx.doi.org/10.1371/journal.pone.0191618.
Pełny tekst źródłaLima, Nayane Soares de, Kamilla de Faria Santos, Caroline Christine Pincela da Costa, Jéssica Barletto de Sousa Barros i Rayana Pereira Dantas de Oliveira. "O gene CFTR e sua associação com o desenvolvimento da Fibrose Cística". Genética na Escola 16, nr 1 (8.01.2021): 150–57. http://dx.doi.org/10.55838/1980-3540.ge.2021.363.
Pełny tekst źródłaКондратьева, Е. И., Ю. Л. Мельяновская, А. С. Ефремова, Н. В. Булатенко, Т. Б. Бухарова, Н. В. Петрова, А. Э. Зодьбинова i in. "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», nr 9() (30.09.2019): 9–18. http://dx.doi.org/10.25557/2073-7998.2019.09.9-18.
Pełny tekst źródłaSchucht, Sylvia, Rebecca Minso, Christiane Lex, Jochen Reiss, Frauke Stanke, Stephanie Tamm, Andrea van Barneveld i Burkhard Tümmler. "Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon". Molecular Genetics & Genomic Medicine 7, nr 2 (1.01.2019): e00526. http://dx.doi.org/10.1002/mgg3.526.
Pełny tekst źródłaStanke, Frauke, Andrea van Barneveld, Silke Hedtfeld, Stefan Wölfl, Tim Becker i 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, nr 5 (9.10.2013): 660–66. http://dx.doi.org/10.1038/ejhg.2013.209.
Pełny tekst źródłaBeumer, Wouter, Jim Swildens, Teresinha Leal, Sabrina Noel, Herma Anthonijsz, Geert van der Horst, Hester Kuiperij-Boersma i in. "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, nr 6 (28.06.2019): e0219182. http://dx.doi.org/10.1371/journal.pone.0219182.
Pełny tekst źródłaPoulou, Myrto, Aspasia Destouni, Irini Fylaktou, Emmanuel Kanavakis i 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, nr 10 (1.10.2012): 1490–92. http://dx.doi.org/10.1373/clinchem.2012.189696.
Pełny tekst źródłaPócsi, M., Z. Fejes, Z. Bene, A. Nagy, I. Balogh, M. D. Amaral, M. Macek i 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 (czerwiec 2023): S118. http://dx.doi.org/10.1016/s1569-1993(23)00549-0.
Pełny tekst źródłaGong, Jiafen, Gengming He, Cheng Wang, Claire Bartlett, Naim Panjwani, Scott Mastromatteo, Fan Lin i in. "Genetic evidence supports the development of SLC26A9 targeting therapies for the treatment of lung disease". npj Genomic Medicine 7, nr 1 (8.04.2022). http://dx.doi.org/10.1038/s41525-022-00299-9.
Pełny tekst źródłaDunsche, Inga, Ellen L. Raddatz, Haide Ismer, Silke Hedtfeld, Steffi Tamm, Saskia Moser, Julia Kontsendorn i in. "Analysis of cystic fibrosis patient survival confirms STAT3 as a CF modifying gene with changing impact over time". Human Molecular Genetics, 1.09.2022. http://dx.doi.org/10.1093/hmg/ddac221.
Pełny tekst źródłaZampoli, M., J. Verstraete, M. Frauendorf, R. Kassanjee, L. Workman, B. M. Morrow i H. J. Zar. "Cystic fibrosis in South Africa: spectrum of disease and determinants of outcome". ERJ Open Research, 11.06.2021, 00856–2020. http://dx.doi.org/10.1183/23120541.00856-2020.
Pełny tekst źródłaStanke, Frauke, Sophia T. Pallenberg, Stephanie Tamm, Silke Hedtfeld, Ella M. Eichhorn, Rebecca Minso, Gesine Hansen i in. "Changes in cystic fibrosis transmembrane conductance regulator protein expression prior to and during elexacaftor-tezacaftor-ivacaftor therapy". Frontiers in Pharmacology 14 (27.01.2023). http://dx.doi.org/10.3389/fphar.2023.1114584.
Pełny tekst źródłaBitam, Sara, Ahmad Elbahnsi, Geordie Creste, Iwona Pranke, Benoit Chevalier, Farouk Berhal, Brice Hoffmann i in. "New insights into structure and function of bis-phosphinic acid derivatives and implications for CFTR modulation". Scientific Reports 11, nr 1 (25.03.2021). http://dx.doi.org/10.1038/s41598-021-83240-x.
Pełny tekst źródłaKuek, Stephanie L., i R. John H. Massie. "Non‐pulmonary CFTR ‐related symptom improvement with ivacaftor in p.Phe508del/p. Arg117His ( 7T ) cystic fibrosis". Respirology Case Reports 11, nr 1 (21.12.2022). http://dx.doi.org/10.1002/rcr2.1079.
Pełny tekst źródłaFerreira, Filipa C., Margarida D. Amaral, Mafalda Bacalhau i Miquéias Lopes-Pacheco. "PTI-801 (posenacaftor) shares a common mechanism with VX-445 (elexacaftor) to rescue p.Phe508del-CFTR". European Journal of Pharmacology, luty 2024, 176390. http://dx.doi.org/10.1016/j.ejphar.2024.176390.
Pełny tekst źródłaEl Makhzen, Nada, Houria Daimi, Laila Bouguenouch i Hugues Abriel. "The burden of cystic fibrosis in North Africa". Frontiers in Genetics 14 (10.01.2024). http://dx.doi.org/10.3389/fgene.2023.1295008.
Pełny tekst źródłaRosa, Joana, Patrícia Gaspar-Silva, Paula Pacheco, Conceição Silva, Cláudia C. Branco, Barbara S. Vieira, Alexandra Carreiro, Juan Gonçalves i Luisa Mota-Vieira. "A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal)". BMC Pediatrics 20, nr 1 (3.01.2020). http://dx.doi.org/10.1186/s12887-019-1903-y.
Pełny tekst źródłaLex, Christiane, Rebecca Minso, Nadine Alfeis, Hendrik Rosewich, Sylvia Schucht i 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, wrzesień 2021. http://dx.doi.org/10.1016/j.jcf.2021.08.018.
Pełny tekst źródłaPócsi, Marianna, Zsolt Fejes, Zsolt Bene, Attila Nagy, István Balogh, Margarida D. Amaral, Milan Macek i 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, kwiecień 2023. http://dx.doi.org/10.1016/j.jcf.2023.04.001.
Pełny tekst źródłaYiallouros, Panayiotis K., Andreas Μ. Matthaiou, Pinelopi Anagnostopoulou, Panayiotis Kouis, Malgorzata Libik, Tonia Adamidi, Adonis Eleftheriou i in. "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, nr 1 (2.10.2021). http://dx.doi.org/10.1186/s13023-021-02049-z.
Pełny tekst źródłaMeneses, 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 i Ricardo Queiroz Gurgel. "Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population". BMC Pediatrics 24, nr 1 (1.07.2024). http://dx.doi.org/10.1186/s12887-024-04891-z.
Pełny tekst źródłaFischer, Sebastian, Frauke Stanke i Burkhard Tümmler. "VJ Segment Usage of TCR-Beta Repertoire in Monozygotic Cystic Fibrosis Twins". Frontiers in Immunology 12 (23.02.2021). http://dx.doi.org/10.3389/fimmu.2021.599133.
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