Articoli di riviste sul tema "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. 2 (21 aprile 2016): 451–58. http://dx.doi.org/10.1183/13993003.01192-2015.
Testo completoSantinelli, 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. 2 (18 gennaio 2024): 185. http://dx.doi.org/10.3390/cells13020185.
Testo completoTrouvé, Pascal, Claude Férec e Emmanuelle Génin. "The Interplay between the Unfolded Protein Response, Inflammation and Infection in Cystic Fibrosis". Cells 10, n. 11 (2 novembre 2021): 2980. http://dx.doi.org/10.3390/cells10112980.
Testo completode 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 dicembre 2021): 1–16. http://dx.doi.org/10.1155/2021/5262000.
Testo completoTabaripour, 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. 4 (2012): 241–46. http://dx.doi.org/10.1155/2012/910729.
Testo completoViart, 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. 1 (3 settembre 2014): 116–28. http://dx.doi.org/10.1183/09031936.00113214.
Testo completoGramegna, 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. 16 (16 agosto 2020): 5882. http://dx.doi.org/10.3390/ijms21165882.
Testo completoChernykh, 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. 22 (14 novembre 2023): 16287. http://dx.doi.org/10.3390/ijms242216287.
Testo completoMekki, 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. 5 (29 aprile 2021): 670. http://dx.doi.org/10.3390/genes12050670.
Testo completoNeocleous, 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.
Testo completoGlotov, 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. 1 (27 dicembre 2023): 45. http://dx.doi.org/10.3390/genes15010045.
Testo completoKashirskaya, 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 (novembre 2021): S307. http://dx.doi.org/10.1016/s1569-1993(21)02069-5.
Testo completoSutanto, 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. 1 (23 gennaio 2018): e0191618. http://dx.doi.org/10.1371/journal.pone.0191618.
Testo completoLima, 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. 1 (8 gennaio 2021): 150–57. http://dx.doi.org/10.55838/1980-3540.ge.2021.363.
Testo completoКондратьева, 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. 9() (30 settembre 2019): 9–18. http://dx.doi.org/10.25557/2073-7998.2019.09.9-18.
Testo completoSchucht, 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. 2 (1 gennaio 2019): e00526. http://dx.doi.org/10.1002/mgg3.526.
Testo completoStanke, 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. 5 (9 ottobre 2013): 660–66. http://dx.doi.org/10.1038/ejhg.2013.209.
Testo completoBeumer, 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. 6 (28 giugno 2019): e0219182. http://dx.doi.org/10.1371/journal.pone.0219182.
Testo completoPoulou, 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. 10 (1 ottobre 2012): 1490–92. http://dx.doi.org/10.1373/clinchem.2012.189696.
Testo completoPócsi, 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 (giugno 2023): S118. http://dx.doi.org/10.1016/s1569-1993(23)00549-0.
Testo completoGong, 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. 1 (8 aprile 2022). http://dx.doi.org/10.1038/s41525-022-00299-9.
Testo completoDunsche, 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 settembre 2022. http://dx.doi.org/10.1093/hmg/ddac221.
Testo completoZampoli, 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 giugno 2021, 00856–2020. http://dx.doi.org/10.1183/23120541.00856-2020.
Testo completoStanke, 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 gennaio 2023). http://dx.doi.org/10.3389/fphar.2023.1114584.
Testo completoBitam, 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. 1 (25 marzo 2021). http://dx.doi.org/10.1038/s41598-021-83240-x.
Testo completoKuek, 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. 1 (21 dicembre 2022). http://dx.doi.org/10.1002/rcr2.1079.
Testo completoFerreira, 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, febbraio 2024, 176390. http://dx.doi.org/10.1016/j.ejphar.2024.176390.
Testo completoEl Makhzen, Nada, Houria Daimi, Laila Bouguenouch e Hugues Abriel. "The burden of cystic fibrosis in North Africa". Frontiers in Genetics 14 (10 gennaio 2024). http://dx.doi.org/10.3389/fgene.2023.1295008.
Testo completoRosa, 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. 1 (3 gennaio 2020). http://dx.doi.org/10.1186/s12887-019-1903-y.
Testo completoLex, 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, settembre 2021. http://dx.doi.org/10.1016/j.jcf.2021.08.018.
Testo completoPócsi, 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, aprile 2023. http://dx.doi.org/10.1016/j.jcf.2023.04.001.
Testo completoYiallouros, 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. 1 (2 ottobre 2021). http://dx.doi.org/10.1186/s13023-021-02049-z.
Testo completoMeneses, 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. 1 (1 luglio 2024). http://dx.doi.org/10.1186/s12887-024-04891-z.
Testo completoFischer, Sebastian, Frauke Stanke e Burkhard Tümmler. "VJ Segment Usage of TCR-Beta Repertoire in Monozygotic Cystic Fibrosis Twins". Frontiers in Immunology 12 (23 febbraio 2021). http://dx.doi.org/10.3389/fimmu.2021.599133.
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