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

Author: Grafiati

Published: 7 July 2024

Last updated: 31 July 2025

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1

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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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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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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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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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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8

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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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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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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11

Neocleous, Vassos, Panayiotis K. Yiallouros, George A. Tanteles, et al. "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.

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We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4–11 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on one allele and p.Phe508del in exon 10 on the second allele. Both parents of Georgian and Ukrainian background had no personal or family history of the disease. The initial molecular diagnostic investigation identified the patient as homozygous for the p.Phe508del and not compatible with his parent’s genetic status. The possibility of nonpaternity or uniparental disomy (UPD7) was investigated and excluded using microsatellite analysis of high

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12

Glotov, Andrey S., Vyacheslav B. Chernykh, Olga A. Solovova, et al. "Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples." Genes 15, no. 1 (2023): 45. http://dx.doi.org/10.3390/genes15010045.

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A male factor, commonly associated with poor semen quality, is revealed in about 50% of infertile couples. CFTR gene (Cystic Fibrosis Transmembrane Conduction Regulator) variants are one of the common genetic causes of azoospermia-related male infertility. Notably, the spectrum and frequency of pathogenic CFTR variants vary between populations and geographical regions. In this work, we made an attempt to evaluate the allele frequency (AF) of 12 common CFTR variants in infertile Russian men and healthy individuals from different districts of Russia. Because of the limited number of population-b

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13

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.

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14

Sutanto, Erika N., Amelia Scaffidi, Luke W. Garratt, et al. "Assessment of p.Phe508del-CFTR functional restoration in pediatric primary cystic fibrosis airway epithelial cells." PLOS ONE 13, no. 1 (2018): e0191618. http://dx.doi.org/10.1371/journal.pone.0191618.

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15

Patel, Naisarg, Samrat Sarkar, Bala Murali V M, et al. "Understanding the action of bamocaftor as a potential drug candidate against Cystic Fibrosis Transmembrane Regulator protein: A computational approach." PLOS One 20, no. 7 (2025): e0328051. https://doi.org/10.1371/journal.pone.0328051.

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Cystic Fibrosis (CF) is a hereditary condition and can cause permanent respiration problems leading to degraded life quality. The most common variation leading to CF is the F508del variation. CF can cause damage to not just the lungs but also digestive system, pancreas, and other organs. CF decreases the life expectancy of the individuals affected with the constant fear of lung complications. The current methods of treatment include using a combination of drugs to manage the symptoms. The combination of drugs has many side effects and causes damage to other organs like liver, heart or kidneys.

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16

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 (2021): 150–57. http://dx.doi.org/10.55838/1980-3540.ge.2021.363.

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A Fibrose Cística (FC), também conhecida por mucoviscidose, é uma doença genética de herança autossômica recessiva causada por mutações no gene CFTR (do inglês Cystic Fibrosis Transmembrane Conductance Regulator). Esse gene codifica uma proteína transmembranar de mesmo nome, inserida na membrana apical de células epiteliais, que transporta cloreto (Cl-) e bicarbonato (HCO3-). Diversas mutações nesse gene estão relacionadas com o desenvolvimento da doença, sendo a F508del (c.1522_1524del ou p.Phe508del, de acordo com as normas do HGVS) a mais frequente, acarretando na degradação proteica. A aus

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17

Кондратьева, Е. И., Ю. Л. Мельяновская, А. С. Ефремова, 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.

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В статье впервые представляется клинико-генетическая характеристика мутации c.1083G>A (p.Trp361*) в гене CFTR. Патогенный генетический вариант c.1083G>A (p.Trp361*) гена CFTR относится к нонсенс-мутациям (I класс) и впервые был внесён в базу данных CFTR1 (http://www.genet.sickkids.on.ca) в середине 2019 г. без описания клинической картины муковисцидоза. Методы. Проведен анализ амбулаторных карт и историй болезни двух пациентов из неродственных семей с редким генетическим вариантом c.1083G>A (p.Trp361*). Для определения разности кишечных потенциалов (ОРКП) и проведения форсколинового т

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18

Schucht, Sylvia, Rebecca Minso, Christiane Lex, et al. "Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon." Molecular Genetics & Genomic Medicine 7, no. 2 (2019): e00526. http://dx.doi.org/10.1002/mgg3.526.

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19

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 (2013): 660–66. http://dx.doi.org/10.1038/ejhg.2013.209.

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20

Pócsi, M., L. Fila, C. Péterfia, et al. "P147 Comparison of the effect of CFTR modulator elexacaftor/tezacaftor/ivacaftor and lumacaftor/ivacaftor via human epididymis protein 4 plasma concentration in p.Phe508del-CFTR homozygous CF patients." Journal of Cystic Fibrosis 24 (June 2025): S112. https://doi.org/10.1016/j.jcf.2025.03.1033.

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21

Beumer, Wouter, Jim Swildens, Teresinha Leal, 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 (2019): e0219182. http://dx.doi.org/10.1371/journal.pone.0219182.

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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 (2012): 1490–92. http://dx.doi.org/10.1373/clinchem.2012.189696.

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Pócsi, M., Z. Fejes, Z. Bene, et al. "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.

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24

Gong, Jiafen, Gengming He, Cheng Wang, et al. "Genetic evidence supports the development of SLC26A9 targeting therapies for the treatment of lung disease." npj Genomic Medicine 7, no. 1 (2022). http://dx.doi.org/10.1038/s41525-022-00299-9.

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AbstractOver 400 variants in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) are CF-causing. CFTR modulators target variants to improve lung function, but marked variability in response exists and current therapies do not address all CF-causing variants highlighting unmet needs. Alternative epithelial ion channel/transporters such as SLC26A9 could compensate for CFTR dysfunction, providing therapeutic targets that may benefit all individuals with CF. We investigate the relationship between rs7512462, a marker of SLC26A9 activity, and lung function pre- and post-treatment wi

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Dunsche, Inga, Ellen L. Raddatz, Haide Ismer, 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.

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Abstract Introduction and aim of study: The signal transducer and activator of transcription 3 (STAT3) has been identified as one of the cystic fibrosis (CF) modifying genes. In this study, we aimed to assess the association between STAT3 genotype and CF patient survival over several decades and to investigate the effect of STAT3 inhibition on epithelial CFTR expression. Methods: We analyzed the informative genetic marker STAT3Sat for its association with survival in 174 p.Phe508del-CFTR homozygous CF patients treated at the CF center in Hannover spanning birth cohorts from &gt; 3 decades

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Zampoli, M., J. Verstraete, M. Frauendorf, et al. "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.

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IntroductionLittle is known about cystic fibrosis (CF) in low-middle income settings. This study aimed to describe the spectrum and outcomes of CF in South Africa (SA) from the recently established SA CF registry (SACFR).MethodsDemographic, diagnosis and clinical data was extracted from the SACFR. Cross-sectional univariable and multivariable regression analysis of best forced expiratory volume in 1 s (FEV1; age≥6 years) and nutrition (all ages) in 2018 was conducted to investigate factors associated with severe lung disease (SLD; FEV1 ≤3.0 z-score) and undernutrition.ResultsBy December 2018,

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Oweidat, Majd, Tamer Qutaina, Alzahra Akram Hamdan, and Fatima Zain Hanini. "Novel Co‐Occurrence of Trisomy 21 and Heterozygous CFTR Mutation." Respirology Case Reports 13, no. 4 (2025). https://doi.org/10.1002/rcr2.70185.

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ABSTRACTThe coexistence of trisomy 21 and cystic fibrosis (CF) is extremely rare, with fewer than 10 reported cases, all involving homozygous CFTR mutations. However, the impact of a heterozygous CFTR mutation in a patient with trisomy 21 remains unexplored. We present a male infant with trisomy 21 who experienced recurrent respiratory distress and was later found to carry a heterozygous pathogenic CFTR mutation (p.Phe508del). His respiratory complications were severe, requiring tracheostomy and long‐term respiratory support. This case highlights the potential interplay between trisomy 21‐asso

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Stanke, Frauke, Sophia T. Pallenberg, Stephanie Tamm, 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.

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Background: Defects in expression, maturation or function of the epithelial membrane glycoprotein CFTR are causative for the progressive disease cystic fibrosis. Recently, molecular therapeutics that improve CFTR maturation and functional defects have been approved. We aimed to verify whether we could detect an improvement of CFTR protein expression and maturation by triple therapy with elexacaftor-tezacaftor-ivacaftor (ELX/TEZ/IVA).Methods: Rectal suction biopsies of 21 p.Phe508del homozygous or compound heterozygous CF patients obtained pre- and during treatment with ELX/TEZ/IVA were analyze

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Bitam, Sara, Ahmad Elbahnsi, Geordie Creste, et al. "New insights into structure and function of bis-phosphinic acid derivatives and implications for CFTR modulation." Scientific Reports 11, no. 1 (2021). http://dx.doi.org/10.1038/s41598-021-83240-x.

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AbstractC407 is a compound that corrects the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein carrying the p.Phe508del (F508del) mutation. We investigated the corrector effect of c407 and its derivatives on F508del-CFTR protein. Molecular docking and dynamics simulations combined with site-directed mutagenesis suggested that c407 stabilizes the F508del-Nucleotide Binding Domain 1 (NBD1) during the co-translational folding process by occupying the position of the p.Phe1068 side chain located at the fourth intracellular loop (ICL4). After CFTR domains assembly, c407 occupies th

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Rodriguez Gonzalez, Claudio, Débora Basílio-Queirós, Anna-Lena Neehus, et al. "Human CFTR deficient iPSC-macrophages reveal impaired functional and transcriptomic response upon Pseudomonas aeruginosa infection." Frontiers in Immunology 15 (November 13, 2024). http://dx.doi.org/10.3389/fimmu.2024.1397886.

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IntroductionCystic fibrosis (CF) is a hereditary autosomal recessive disease driven by deleterious variants of the CFTR gene, leading, among other symptoms, to increased lung infection susceptibility. Mucus accumulation in the CF lung is, as of yet, considered as one important factor contributing to its colonization by opportunistic pathogens such as Pseudomonas aeruginosa. However, in recent years evidence was provided that alveolar macrophages, which form the first line of defense against airborne pathogens, seem to be intrinsically defective with regard to bactericidal functionality in the

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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 (2022). http://dx.doi.org/10.1002/rcr2.1079.

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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.

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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.

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Background: Over 200 pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with cystic fibrosis (CF)—the most prevalent autosomal recessive disease globally, the p.Phe508del variant being the most commonly observed.Main text: Recent epidemiological studies suggest a higher global prevalence of CF than previously thought. Nevertheless, comprehensive CF data remains extremely scarce among African populations, contributing to a significant information gap within the African healthcare system. Consequently, the underestimation of CF among childre

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Azevedo, Marcelo Folhadella M. F., David C. Zeitune, Renan L. de Farias, et al. "Direct access of 4-acyl-1,2,3-triazoles from acetophenones: a synthetic shortcut for novel p.Phe508del-CFTR traffic correctors." Journal of Molecular Structure, September 2024, 139897. http://dx.doi.org/10.1016/j.molstruc.2024.139897.

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35

Rosa, Joana, Patrícia Gaspar-Silva, Paula Pacheco, et al. "A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal)." BMC Pediatrics 20, no. 1 (2020). http://dx.doi.org/10.1186/s12887-019-1903-y.

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Abstract Background Early diagnosis and treatment are improving significantly the quality of life of patients with cystic fibrosis (CF). This recessive disease is caused by a great variability of mutations in the CF transmembrane conductance (CFTR) gene, whose spectrum and frequency can be different across populations. Methods We performed a retrospective cross-sectional study of CF patients from the island of São Miguel (Azores, Portugal) through a clinical, genealogical, genetic and epidemiological investigation. The clinical course of patients was analyzed as a whole and according to their

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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.

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Pócsi, Marianna, Zsolt Fejes, Zsolt Bene, et al. "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.

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Yiallouros, Panayiotis K., Andreas Μ. Matthaiou, Pinelopi Anagnostopoulou, 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 (2021). http://dx.doi.org/10.1186/s13023-021-02049-z.

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Abstract Background Specialized clinical care for cystic fibrosis (CF) in Cyprus, a small island country, has been implemented since the 1990s. However, only recently, a national CF patient registry has been established for the systematic recording of patients’ data. In this study, we aim to present data on the epidemiological, genotypic and phenotypic features of CF patients in the country from the most recent data collection in 2019, with particular emphasis on notable rare or unique cases. Results Overall, data from 52 patients are presented, 5 of whom have deceased and 13 have been lost to

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Meneses, Daniela Gois, Fábia Regina dos Santos, Anne Jardim Botelho, et al. "Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population." BMC Pediatrics 24, no. 1 (2024). http://dx.doi.org/10.1186/s12887-024-04891-z.

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Abstract Introduction In highly multiracial populations with inadequate newborn screening, knowledge of the various phenotypic presentations of Cystic Fibrosis (CF) can help reach an early diagnosis. This study aims to describe phenotypes and genotypes at the time of CF diagnosis in a state in the Northeast Region of Brazil. Methods Retrospective cross-sectional study. Clinical data were extracted from the medical records of CF patients. Clinical, laboratory, and genotypic characteristics were described for patients admitted to a tertiary referral center between 2007 and 2021. Results Fifty-ei

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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.

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Sixteen monozygotic cystic fibrosis (CF) twin pairs of whom 14 pairs were homozygous for the most common p.Phe508del CFTR mutation were selected from the European Cystic Fibrosis Twin and Sibling Study Cohort. The monozygotic twins were examined in their T cell receptor (TCR) repertoire in peripheral blood by amplicon sequencing of the CDR3 variable region of the ß-chain. The recruitment of TCR J and V genes for recombination and selection in the thymus showed a strong genetic influence in the CF twin cohort as indicated by the shortest Jensen-Shannon distance to the twin individual. Exception

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