Relevant bibliographies by topics / P.Phe508del-CFTR

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Academic literature on the topic 'P.Phe508del-CFTR'

Author: Grafiati
Published: 7 July 2024
Last updated: 31 July 2025

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Journal articles on the topic "P.Phe508del-CFTR"

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Dekkers, Johanna F., Ricardo A. Gogorza Gondra, Evelien Kruisselbrink, et al. "Optimal correction of distinct CFTR folding mutants in rectal cystic fibrosis organoids." European Respiratory Journal 48, no. 2 (2016): 451–58. http://dx.doi.org/10.1183/13993003.01192-2015.

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Small-molecule therapies that restore defects in cystic fibrosis transmembrane conductance regulator (CFTR) gating (potentiators) or trafficking (correctors) are being developed for cystic fibrosis (CF) in a mutation-specific fashion. Options for pharmacological correction of CFTR-p.Phe508del (F508del) are being extensively studied but correction of other trafficking mutants that may also benefit from corrector treatment remains largely unknown.We studied correction of the folding mutants CFTR-p.Phe508del, -p.Ala455Glu (A455E) and -p.Asn1303Lys (N1303K) by VX-809 and 18 other correctors (C1–C1
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2

Santinelli, Raphaël, Nathalie Benz, Julie Guellec, 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 (2024): 185. http://dx.doi.org/10.3390/cells13020185.

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Cystic Fibrosis (CF) is present due to mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, the most frequent variant being p.phe508del. The CFTR protein is a chloride (Cl-) channel which is defective and almost absent of cell membranes when the p.Phe508del mutation is present. The p.Phe508del-CFTR protein is retained in the endoplasmic reticulum (ER) and together with inflammation and infection triggers the Unfolded Protein Response (UPR). During the UPR, the Activating Transcription Factor 6 (ATF6) is activated with cleavage and then decreases the expression of p
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Trouvé, Pascal, Claude Férec, and Emmanuelle Génin. "The Interplay between the Unfolded Protein Response, Inflammation and Infection in Cystic Fibrosis." Cells 10, no. 11 (2021): 2980. http://dx.doi.org/10.3390/cells10112980.

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In cystic fibrosis (CF), p.Phe508del is the most frequent mutation in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. The p.Phe508del-CFTR protein is retained in the ER and rapidly degraded. This retention likely triggers an atypical Unfolded Protein Response (UPR) involving ATF6, which reduces the expression of p.Phe508del-CFTR. There are still some debates on the role of the UPR in CF: could it be triggered by the accumulation of misfolded CFTR proteins in the endoplasmic reticulum as was proposed for the most common CFTR mutation p.Phe508del? Or, is it the consequence o
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4

Trouvé, Pascal, and Claude Férec. "p.Phe508del-CFTR Trafficking: A Protein Quality Control Perspective Through UPR, UPS, and Autophagy." International Journal of Molecular Sciences 26, no. 8 (2025): 3623. https://doi.org/10.3390/ijms26083623.

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Cystic fibrosis (CF) is a genetic disease due to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The most frequent mutation (p.Phe508del) results in a misfolded protein (p.Phe508del-CFTR) with an altered transport to the membrane of the cells via the conventional protein secretion (CPS) pathway. Nevertheless, it can use unconventional protein secretion (UPS). Indeed, p.Phe508del-CFTR forms a complex with GRASP55 to assist its direct trafficking from the endoplasmic reticulum to the plasma membrane. While GRASP55 is a key player of UPS, it is also a key player
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5

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.

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Cystic fibrosis (CF) is an autosomal recessive disorder, caused by diverse genetic variants for the CF transmembrane conductance regulator (CFTR) protein. Among these, p.Phe508del is the most prevalent variant. The effects of this variant on the physiology of each tissue remains unknown. This study is aimed at predicting cell signaling pathways present in different tissues of fibrocystic patients, homozygous for p.Phe508del. The study involved analysis of two microarray datasets, E-GEOD-15568 and E-MTAB-360 corresponding to the rectal and bronchial epithelium, respectively, obtained from the A
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6

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.

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Background:Cystic fibrosis is a monogenic recessive disorder found predominantly in Caucasian population. This disease arises from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. In this study we consider poly T polymorphism c.1210-12T[5], c.1210-12T[7], c.1210-12T[9] (T5, T7, T9) in the intron 8 of CFTR gene in normal individuals and cystic fibrosis patients in the north of Iran.Material and methods:40 CF patients and 40 normal individuals were screened for poly T polymorphism in intron 8 of CFTR gene using Reverse Dot Blot method which was also used to detec
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7

Viart, Victoria, Anne Bergougnoux, Jennifer Bonini, et al. "Transcription factors and miRNAs that regulate fetal to adult CFTR expression change are new targets for cystic fibrosis." European Respiratory Journal 45, no. 1 (2014): 116–28. http://dx.doi.org/10.1183/09031936.00113214.

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The CFTR gene displays a tightly regulated tissue-specific and temporal expression. Mutations in this gene cause cystic fibrosis (CF). In this study we wanted to identify trans-regulatory elements responsible for CFTR differential expression in fetal and adult lung, and to determine the importance of inhibitory motifs in the CFTR-3′UTR with the aim of developing new tools for the correction of disease-causing mutations within CFTR.We show that lung development-specific transcription factors (FOXA, C/EBP) and microRNAs (miR-101, miR-145, miR-384) regulate the switch from strong fetal to very lo
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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 (2020): 5882. http://dx.doi.org/10.3390/ijms21165882.

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Over the last years CFTR (cystic fibrosis transmembrane conductance regulator) modulators have shown the ability to improve relevant clinical outcomes in patients with cystic fibrosis (CF). This review aims at a systematic research of the current evidence on efficacy and tolerability of CFTR modulators for different genetic subsets of patients with CF. Two investigators independently performed the search on PubMed and included phase 2 and 3 clinical trials published in the study period 1 January 2005–31 January 2020. A final pool of 23 papers was included in the systematic review for a total o
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9

Chernykh, Vyacheslav, Stanislav Krasovsky, Olga Solovova, 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 (2023): 16287. http://dx.doi.org/10.3390/ijms242216287.

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Pathogenic CFTR variants cause cystic fibrosis (CF), and CF-related disorders (CF-RD), including bilateral aplasia of the vas deferens (CBAVD). The spectrum of clinical manifestations depends on the CFTR genotype. The frequency and spectrum of the CFTR variants vary between populations and clinical groups. CFTR variants and genotypes were analyzed in Russian men with CF (n = 546) and CBAVD syndrome (n = 125). Pathogenic variants were detected in 93.95% and 39.2% of the CF and CBAVD alleles, respectively. The most frequent c.1521_1523del (F508del; p.Phe508del) variant was found in 541 (49.5%) C
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10

Mekki, Chadia, Abdel Aissat, Véronique Mirlesse, et al. "Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?" Genes 12, no. 5 (2021): 670. http://dx.doi.org/10.3390/genes12050670.

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In families without a Cystic Fibrosis (CF) history, fetal ultrasound bowel abnormalities can unexpectedly reveal the disease. Isolated or in association, the signs can be fetal bowel hyperechogenicity, intestinal loop dilatation and non-visualization of fetal gallbladder. In these cases, search for CF transmembrane conductance regulator (CFTR) gene mutations is part of the recommended diagnostic practices, with a search for frequent mutations according to ethnicity, and, in case of the triad of signs, with an exhaustive study of the gene. However, the molecular diagnosis remains a challenge in
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Dissertations / Theses on the topic "P.Phe508del-CFTR"

1

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.

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La mucoviscidose est la maladie génétique létale à transmission autosomale récessive la plus fréquemment retrouvée dans la population européenne. Elle est due à des mutations altérant le gène CFTR, dont la plus fréquente est la mutation induisant la délétion d’une phénylalanine en position 508 de la séquence polypeptidique de cette protéine (p.Phe508del-CFTR). Ces mutations altèrent la viscosité du mucus présent à la surface apicale des cellules épithéliales des systèmes respiratoire, digestif et génital. Cela entraîne une baisse de la clairance mucociliaire, rendant difficile le renouvellemen
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