Artigos de revistas sobre o tema "P.Phe508del-CFTR"
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Veja os 34 melhores artigos de revistas para estudos sobre o assunto "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 e Jeffrey M. Beekman. "Optimal correction of distinct CFTR folding mutants in rectal cystic fibrosis organoids". European Respiratory Journal 48, n.º 2 (21 de abril de 2016): 451–58. http://dx.doi.org/10.1183/13993003.01192-2015.
Texto completo da fonteSantinelli, 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, n.º 2 (18 de janeiro de 2024): 185. http://dx.doi.org/10.3390/cells13020185.
Texto completo da fonteTrouvé, Pascal, Claude Férec e Emmanuelle Génin. "The Interplay between the Unfolded Protein Response, Inflammation and Infection in Cystic Fibrosis". Cells 10, n.º 11 (2 de novembro de 2021): 2980. http://dx.doi.org/10.3390/cells10112980.
Texto completo da fontede Faria Poloni, Joice, Thaiane Rispoli, Maria Lucia Rossetti, Cristiano Trindade e 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 de dezembro de 2021): 1–16. http://dx.doi.org/10.1155/2021/5262000.
Texto completo da fonteTabaripour, Reza, Haleh Akhavan Niaki, Mohammad Reza Esmaeeli Douki, Javad Tavakkoly Bazzaz, Bagher Larijani e Parichehr Yaghmaei. "Poly Thymidine Polymorphism and Cystic Fibrosis in a Non-Caucasian Population". Disease Markers 32, n.º 4 (2012): 241–46. http://dx.doi.org/10.1155/2012/910729.
Texto completo da fonteViart, Victoria, Anne Bergougnoux, Jennifer Bonini, Jessica Varilh, Raphaël Chiron, Olivier Tabary, Nicolas Molinari, Mireille Claustres e 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, n.º 1 (3 de setembro de 2014): 116–28. http://dx.doi.org/10.1183/09031936.00113214.
Texto completo da fonteGramegna, Andrea, Martina Contarini, Stefano Aliberti, Rosaria Casciaro, Francesco Blasi e 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, n.º 16 (16 de agosto de 2020): 5882. http://dx.doi.org/10.3390/ijms21165882.
Texto completo da fonteChernykh, 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, n.º 22 (14 de novembro de 2023): 16287. http://dx.doi.org/10.3390/ijms242216287.
Texto completo da fonteMekki, 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, n.º 5 (29 de abril de 2021): 670. http://dx.doi.org/10.3390/genes12050670.
Texto completo da fonteNeocleous, Vassos, Panayiotis K. Yiallouros, George A. Tanteles, Constantina Costi, Maria Moutafi, Phivos Ioannou, Philippos C. Patsalis, Carolina Sismani e 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.
Texto completo da fonteGlotov, 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 e Oleg S. Glotov. "Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples". Genes 15, n.º 1 (27 de dezembro de 2023): 45. http://dx.doi.org/10.3390/genes15010045.
Texto completo da fonteKashirskaya, N., N. Petrova, A. Marakhonov, S. Kutsev e R. Zinchenko. "646: Frequency of CFTR complex alleles associated with p.Phe508del in Russian cystic fibrosis patients". Journal of Cystic Fibrosis 20 (novembro de 2021): S307. http://dx.doi.org/10.1016/s1569-1993(21)02069-5.
Texto completo da fonteSutanto, Erika N., Amelia Scaffidi, Luke W. Garratt, Kevin Looi, Clara J. Foo, Michela A. Tessari, Richard A. Janssen, David F. Fischer, Stephen M. Stick e Anthony Kicic. "Assessment of p.Phe508del-CFTR functional restoration in pediatric primary cystic fibrosis airway epithelial cells". PLOS ONE 13, n.º 1 (23 de janeiro de 2018): e0191618. http://dx.doi.org/10.1371/journal.pone.0191618.
Texto completo da fonteLima, Nayane Soares de, Kamilla de Faria Santos, Caroline Christine Pincela da Costa, Jéssica Barletto de Sousa Barros e Rayana Pereira Dantas de Oliveira. "O gene CFTR e sua associação com o desenvolvimento da Fibrose Cística". Genética na Escola 16, n.º 1 (8 de janeiro de 2021): 150–57. http://dx.doi.org/10.55838/1980-3540.ge.2021.363.
Texto completo da fonteКондратьева, 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», n.º 9() (30 de setembro de 2019): 9–18. http://dx.doi.org/10.25557/2073-7998.2019.09.9-18.
Texto completo da fonteSchucht, Sylvia, Rebecca Minso, Christiane Lex, Jochen Reiss, Frauke Stanke, Stephanie Tamm, Andrea van Barneveld e Burkhard Tümmler. "Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon". Molecular Genetics & Genomic Medicine 7, n.º 2 (1 de janeiro de 2019): e00526. http://dx.doi.org/10.1002/mgg3.526.
Texto completo da fonteStanke, Frauke, Andrea van Barneveld, Silke Hedtfeld, Stefan Wölfl, Tim Becker e 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, n.º 5 (9 de outubro de 2013): 660–66. http://dx.doi.org/10.1038/ejhg.2013.209.
Texto completo da fonteBeumer, 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, n.º 6 (28 de junho de 2019): e0219182. http://dx.doi.org/10.1371/journal.pone.0219182.
Texto completo da fontePoulou, Myrto, Aspasia Destouni, Irini Fylaktou, Emmanuel Kanavakis e 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, n.º 10 (1 de outubro de 2012): 1490–92. http://dx.doi.org/10.1373/clinchem.2012.189696.
Texto completo da fontePócsi, M., Z. Fejes, Z. Bene, A. Nagy, I. Balogh, M. D. Amaral, M. Macek e 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 (junho de 2023): S118. http://dx.doi.org/10.1016/s1569-1993(23)00549-0.
Texto completo da fonteGong, 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, n.º 1 (8 de abril de 2022). http://dx.doi.org/10.1038/s41525-022-00299-9.
Texto completo da fonteDunsche, 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, 1 de setembro de 2022. http://dx.doi.org/10.1093/hmg/ddac221.
Texto completo da fonteZampoli, M., J. Verstraete, M. Frauendorf, R. Kassanjee, L. Workman, B. M. Morrow e H. J. Zar. "Cystic fibrosis in South Africa: spectrum of disease and determinants of outcome". ERJ Open Research, 11 de junho de 2021, 00856–2020. http://dx.doi.org/10.1183/23120541.00856-2020.
Texto completo da fonteStanke, 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 (27 de janeiro de 2023). http://dx.doi.org/10.3389/fphar.2023.1114584.
Texto completo da fonteBitam, 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, n.º 1 (25 de março de 2021). http://dx.doi.org/10.1038/s41598-021-83240-x.
Texto completo da fonteKuek, Stephanie L., e R. John H. Massie. "Non‐pulmonary CFTR ‐related symptom improvement with ivacaftor in p.Phe508del/p. Arg117His ( 7T ) cystic fibrosis". Respirology Case Reports 11, n.º 1 (21 de dezembro de 2022). http://dx.doi.org/10.1002/rcr2.1079.
Texto completo da fonteFerreira, Filipa C., Margarida D. Amaral, Mafalda Bacalhau e Miquéias Lopes-Pacheco. "PTI-801 (posenacaftor) shares a common mechanism with VX-445 (elexacaftor) to rescue p.Phe508del-CFTR". European Journal of Pharmacology, fevereiro de 2024, 176390. http://dx.doi.org/10.1016/j.ejphar.2024.176390.
Texto completo da fonteEl Makhzen, Nada, Houria Daimi, Laila Bouguenouch e Hugues Abriel. "The burden of cystic fibrosis in North Africa". Frontiers in Genetics 14 (10 de janeiro de 2024). http://dx.doi.org/10.3389/fgene.2023.1295008.
Texto completo da fonteRosa, Joana, Patrícia Gaspar-Silva, Paula Pacheco, Conceição Silva, Cláudia C. Branco, Barbara S. Vieira, Alexandra Carreiro, Juan Gonçalves e Luisa Mota-Vieira. "A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal)". BMC Pediatrics 20, n.º 1 (3 de janeiro de 2020). http://dx.doi.org/10.1186/s12887-019-1903-y.
Texto completo da fonteLex, Christiane, Rebecca Minso, Nadine Alfeis, Hendrik Rosewich, Sylvia Schucht e 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, setembro de 2021. http://dx.doi.org/10.1016/j.jcf.2021.08.018.
Texto completo da fontePócsi, Marianna, Zsolt Fejes, Zsolt Bene, Attila Nagy, István Balogh, Margarida D. Amaral, Milan Macek e 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, abril de 2023. http://dx.doi.org/10.1016/j.jcf.2023.04.001.
Texto completo da fonteYiallouros, 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, n.º 1 (2 de outubro de 2021). http://dx.doi.org/10.1186/s13023-021-02049-z.
Texto completo da fonteMeneses, 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 e Ricardo Queiroz Gurgel. "Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population". BMC Pediatrics 24, n.º 1 (1 de julho de 2024). http://dx.doi.org/10.1186/s12887-024-04891-z.
Texto completo da fonteFischer, Sebastian, Frauke Stanke e Burkhard Tümmler. "VJ Segment Usage of TCR-Beta Repertoire in Monozygotic Cystic Fibrosis Twins". Frontiers in Immunology 12 (23 de fevereiro de 2021). http://dx.doi.org/10.3389/fimmu.2021.599133.
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