Variant ID: 7-117199647-CTTT-C

NM_000492.3(CFTR):c.1522_1524del;(p.Phe508del)

This variant was identified in 1327 publications




Publications:


Pathological Aspects of COVID-19 as a Conformational Disease and the Use of Pharmacological Chaperones as a Potential Therapeutic Strategy.

Frontiers In Pharmacology
T Aoe
Publication Date: 2020

Variant appearance in text: CFTR: F508del
PMID: 32754041
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Impact of Cross-Coupling Reactions in Drug Discovery and Development.

Molecules (Basel, Switzerland)
MJ Buskes, MJ Blanco
Publication Date: 2020-07-31

Variant appearance in text: CFTR: F508del
PMID: 32751973
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Proteomics and Metabolomics for Cystic Fibrosis Research.

International Journal Of Molecular Sciences
N Liessi, N Pedemonte, A Armirotti, C Braccia
Publication Date: 2020-07-30

Variant appearance in text: CFTR: F508del
PMID: 32751630
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The Australia & New Zealand Society of Respiratory Science and The Thoracic Society of Australia and New Zealand (ANZSRS/TSANZ) Annual Scientific Meeting, Adelaide, Australia, 23-27 March 2018.

Respirology (Carlton, Vic.)
.
Publication Date: 2018-03

Variant appearance in text: CFTR: F508del
PMID: 32744753
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Rat models of human diseases and related phenotypes: a systematic inventory of the causative genes.

Journal Of Biomedical Science
C Szpirer
Publication Date: 2020-08-02

Variant appearance in text: CFTR: F508del
PMID: 32741357
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Phenotypic Screening in C. elegans as a Tool for the Discovery of New Geroprotective Drugs.

Pharmaceuticals (Basel, Switzerland)
S Bulterijs, BP Braeckman
Publication Date: 2020-07-25

Variant appearance in text: CFTR: F508del
PMID: 32722365
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External and Genetic Conditions Determining Male Infertility.

International Journal Of Molecular Sciences
P Kamiński, J Baszyński, I Jerzak, BP Kavanagh, E Nowacka-Chiari, M Polanin, M Szymański, A Woźniak, W Kozera
Publication Date: 2020-07-24

Variant appearance in text: CFTR: F508del
PMID: 32722328
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High-Dose Inhaled Nitric Oxide as Adjunct Therapy in Cystic Fibrosis Targeting Burkholderia multivorans.

Case Reports In Pediatrics
BL Bartley, KJ Gardner, S Spina, BP Hurley, D Campeau, L Berra, LM Yonker, RW Carroll
Publication Date: 2020

Variant appearance in text: CFTR: F508del
PMID: 32685229
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Clinical characteristics and outcomes in adult cystic fibrosis patients with severe lung disease in Porto Alegre, southern Brazil.

Bmc Pulmonary Medicine
GF Silva, N J Simmonds, PT Roth Dalcin
Publication Date: 2020-07-16

Variant appearance in text: CFTR: F508del
PMID: 32677921
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Improved outcomes in cystic fibrosis using modified Re-Education of Airway Clearance Technique (REACT) programme.

Bmj Open Quality
C Reamer, C O'Malley, J Nufer, A Savant
Publication Date: 2020-07

Variant appearance in text: CFTR: F508del
PMID: 32675178
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Distinctive lipid signatures of bronchial epithelial cells associated with cystic fibrosis drugs, including Trikafta.

Jci Insight
N Liessi, E Pesce, C Braccia, SM Bertozzi, A Giraudo, T Bandiera, N Pedemonte, A Armirotti
Publication Date: 2020-07-16

Variant appearance in text: CFTR: F508del
PMID: 32673287
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Cystic fibrosis diagnosed by state newborn screening: Or is it?

Sage Open Medical Case Reports
M Fox, A Mercier, A Savant, TA Laguna
Publication Date: 2020

Variant appearance in text: CFTR: F508del
PMID: 32670584
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Phosphorylation of the Chaperone-Like HspB5 Rescues Trafficking and Function of F508del-CFTR.

International Journal Of Molecular Sciences
F Degrugillier, A Aissat, V Prulière-Escabasse, L Bizard, B Simonneau, X Decrouy, C Jiang, D Rotin, P Fanen, S Simon
Publication Date: 2020-07-08

Variant appearance in text: CFTR: F508del
PMID: 32650630
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Practitioner Due Diligence: Real-World Lumacaftor/Ivacaftor Use.

The Journal Of Pediatric Pharmacology And Therapeutics : Jppt : The Official Journal Of Ppag
EM Stephan, CJ Nemastil, A Salvator, S Gemma, CJ Dilaveris, A Rice, KT Sakellaris, KJ Novak, KS McCoy
Publication Date: 2020

Variant appearance in text: CFTR: Phe508del
PMID: 32641913
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Investigating REPAIRv2 as a Tool to Edit CFTR mRNA with Premature Stop Codons.

International Journal Of Molecular Sciences
R Melfi, P Cancemi, R Chiavetta, V Barra, L Lentini, A Di Leonardo
Publication Date: 2020-07-06

Variant appearance in text: CFTR: F508del
PMID: 32640650
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Human organoids: model systems for human biology and medicine.

Nature Reviews. Molecular Cell Biology
J Kim, BK Koo, JA Knoblich
Publication Date: 2020-07-07

Variant appearance in text: CFTR: F508del
PMID: 32636524
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Parallel Analysis of Cystic Fibrosis Sputum and Saliva Reveals Overlapping Communities and an Opportunity for Sample Decontamination.

Msystems
J Lu, LA Carmody, K Opron, RH Simon, LM Kalikin, LJ Caverly, JJ LiPuma
Publication Date: 2020-07-07

Variant appearance in text: CFTR: F508del
PMID: 32636336
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Untargeted Metagenomic Investigation of the Airway Microbiome of Cystic Fibrosis Patients with Moderate-Severe Lung Disease.

Microorganisms
G Bacci, G Taccetti, D Dolce, F Armanini, N Segata, F Di Cesare, V Lucidi, E Fiscarelli, P Morelli, R Casciaro, A Negroni, A Mengoni, A Bevivino
Publication Date: 2020-07-04

Variant appearance in text: CFTR: F508del
PMID: 32635564
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KLF4 Acts as a wt-CFTR Suppressor through an AKT-Mediated Pathway.

Cells
L Sousa, I Pankonien, LA Clarke, I Silva, K Kunzelmann, MD Amaral
Publication Date: 2020-07-02

Variant appearance in text: CFTR: F508del
PMID: 32630830
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Cystic Fibrosis: Overview of the Current Development Trends and Innovative Therapeutic Strategies.

Pharmaceutics
FA Almughem, AM Aldossary, EA Tawfik, MN Alomary, WS Alharbi, MY Alshahrani, AA Alshehri
Publication Date: 2020-07-02

Variant appearance in text: CFTR: F508del
PMID: 32630625
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Full Rescue of F508del-CFTR Processing and Function by CFTR Modulators Can Be Achieved by Removal of Two Regulatory Regions.

International Journal Of Molecular Sciences
I Uliyakina, HM Botelho, AC da Paula, S Afonso, MJ Lobo, V Felício, CM Farinha, MD Amaral
Publication Date: 2020-06-25

Variant appearance in text: CFTR: F508del
PMID: 32630527
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Insight into Salivary Gland Aquaporins.

Cells
C D'Agostino, OA Elkashty, C Chivasso, J Perret, SD Tran, C Delporte
Publication Date: 2020-06-25

Variant appearance in text: CFTR: F508del
PMID: 32630469
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Altered iron metabolism in cystic fibrosis macrophages: the impact of CFTR modulators and implications for Pseudomonas aeruginosa survival.

Scientific Reports
HF Hazlett, TH Hampton, DS Aridgides, DA Armstrong, JA Dessaint, DL Mellinger, AB Nymon, A Ashare
Publication Date: 2020-07-02

Variant appearance in text: CFTR: F508del
PMID: 32616918
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GM1 as Adjuvant of Innovative Therapies for Cystic Fibrosis Disease.

International Journal Of Molecular Sciences
G Mancini, N Loberto, D Olioso, MC Dechecchi, G Cabrini, L Mauri, R Bassi, D Schiumarini, E Chiricozzi, G Lippi, E Pesce, S Sonnino, N Pedemonte, A Tamanini, M Aureli
Publication Date: 2020-06-24

Variant appearance in text: CFTR: F508del
PMID: 32599772
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Chronic rhinosinusitis in patients with cystic fibrosis-Current management and new treatments.

Laryngoscope Investigative Otolaryngology
BJ Johnson, GW Choby, EK O'Brien
Publication Date: 2020-06

Variant appearance in text: CFTR: F508del
PMID: 32596478
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JCF Year in Review.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
P Flume, C Castellani
Publication Date: 2020-07

Variant appearance in text: CFTR: F508del
PMID: 32593371
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FACTORS ASSOCIATED TO QUALITY OF LIFE IN CHILDREN AND ADOLESCENTS WITH CYSTIC FIBROSIS.

Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo
NN Santana, CRMM Chaves, CP Gonçalves, SCDS Gomes Junior
Publication Date: 2020

Variant appearance in text: CFTR: F508del
PMID: 32578674
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Decades of cough: delayed recognition of atypical cystic fibrosis in an adult patient.

Jrsm Open
A Chandel, K Pak, S Dooley, K Salazar
Publication Date: 2020-06

Variant appearance in text: CFTR: F508del
PMID: 32577293
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CFTR modulator therapies - Effect on life expectancy in people with cystic fibrosis.

Paediatric Respiratory Reviews
IM Balfour-Lynn, JA King
Publication Date: 2020-05-26

Variant appearance in text: CFTR: Phe508del
PMID: 32565113
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MiRNA Expression Profile in the Airways is Altered during Pulmonary Exacerbation in Children with Cystic Fibrosis-A Preliminary Report.

Journal Of Clinical Medicine
Z Stachowiak, I Wojsyk-Banaszak, K Jończyk-Potoczna, B Narożna, W Langwiński, Z Kycler, P Sobkowiak, A Bręborowicz, A Szczepankiewicz
Publication Date: 2020-06-16

Variant appearance in text: CFTR: F508del
PMID: 32560275
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Cutaneous Adverse Events in Newly Approved FDA Non-cancer Drugs: A Systematic Review.

Drugs In R&D
PC Macklis, B Dulmage, B Evans, M Rosenbach, JE Gudjonsson, BH Kaffenberger
Publication Date: 2020-06-17

Variant appearance in text: CFTR: F508del
PMID: 32557274
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A Case Report of Cystic Fibrosis Complicated by Burkholderia Cepacia and Cutaneous Vasculitis.

Cureus
A Klimko, A Brandt, MI Brustan, M Balgradean
Publication Date: 2020-05-16

Variant appearance in text: CFTR: F508del
PMID: 32550075
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Hereditary pancreatitis model by blastocyst complementation in mouse.

Oncotarget
A Asai, M Konno, K Kawamoto, A Isotani, M Mori, H Eguchi, Y Doki, T Arai, H Ishii
Publication Date: 2020-06-02

Variant appearance in text: CFTR: F508del
PMID: 32547704
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Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis.

Orphanet Journal Of Rare Diseases
K Liu, W Xu, M Xiao, X Zhao, C Bian, Q Zhang, J Song, K Chen, X Tian, Y Liu, KF Xu, X Zhang
Publication Date: 2020-06-15

Variant appearance in text: CFTR: F508del
PMID: 32539862
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New Medical Device and Therapeutic Approvals in Otolaryngology: State of the Art Review of 2019.

Oto Open
A Rameau, RS Hong, H Djalilian, ID Erbele, KM Phillips, R Capasso, AS Rose, MJ Brenner, PL Santa Maria
Publication Date: 2020

Variant appearance in text: CFTR: F508del
PMID: 32537556
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An 8 week open-label interventional multicenter study to explore the lung clearance index as endpoint for clinical trials in cystic fibrosis patients ≥8 years of age, chronically infected with Pseudomonas aeruginosa.

Bmc Pulmonary Medicine
S Sutharsan, S Naehrig, U Mellies, C Sieder, J Ziegler
Publication Date: 2020-06-12

Variant appearance in text: CFTR: F508del
PMID: 32532226
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Antisense oligonucleotide-mediated correction of CFTR splicing improves chloride secretion in cystic fibrosis patient-derived bronchial epithelial cells.

Nucleic Acids Research
WE Michaels, RJ Bridges, ML Hastings
Publication Date: 2020-06-10

Variant appearance in text: CFTR: F508del
PMID: 32520327
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Airway microbial diversity is decreased in young children with cystic fibrosis compared to healthy controls but improved with CFTR modulation.

Heliyon
A Hahn, A Burrell, E Ansusinha, D Peng, H Chaney, I Sami, GF Perez, AC Koumbourlis, R McCarter, RJ Freishtat, KA Crandall, ET Zemanick
Publication Date: 2020-06

Variant appearance in text: CFTR: F508del
PMID: 32514485
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Management of initial colonisations with Burkholderia species in France, with retrospective analysis in five cystic fibrosis Centres: a pilot study.

Bmc Pulmonary Medicine
V Gruzelle, H Guet-Revillet, C Segonds, S Bui, J Macey, R Chiron, M Michelet, M Murris-Espin, M Mittaine
Publication Date: 2020-06-05

Variant appearance in text: CFTR: F508del
PMID: 32503487
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Pharmacological modulation of mitochondrial calcium uniporter controls lung inflammation in cystic fibrosis.

Science Advances
A Rimessi, C Pozzato, L Carparelli, A Rossi, S Ranucci, I De Fino, C Cigana, A Talarico, MR Wieckowski, CMP Ribeiro, C Trapella, G Rossi, G Cabrini, A Bragonzi, P Pinton
Publication Date: 2020-05

Variant appearance in text: CFTR: Phe508del
PMID: 32494695
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Allele-Specific Prevention of Nonsense-Mediated Decay in Cystic Fibrosis Using Homology-Independent Genome Editing.

Molecular Therapy. Methods & Clinical Development
S Erwood, O Laselva, TMI Bily, RA Brewer, AH Rutherford, CE Bear, EA Ivakine
Publication Date: 2020-06-12

Variant appearance in text: CFTR: F508del
PMID: 32490033
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Gene Therapy for Cystic Fibrosis: Progress and Challenges of Genome Editing.

International Journal Of Molecular Sciences
G Maule, D Arosio, A Cereseto
Publication Date: 2020-05-30

Variant appearance in text: CFTR: F508del
PMID: 32486152
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Human Nasal Epithelial Organoids for Therapeutic Development in Cystic Fibrosis.

Genes
Z Liu, JD Anderson, L Deng, S Mackay, J Bailey, L Kersh, SM Rowe, JS Guimbellot
Publication Date: 2020-05-29

Variant appearance in text: CFTR: F508del
PMID: 32485957
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The Role of MicroRNA in the Airway Surface Liquid Homeostasis.

International Journal Of Molecular Sciences
N Mitash, J E Donovan, A Swiatecka-Urban
Publication Date: 2020-05-28

Variant appearance in text: CFTR: F508del
PMID: 32481719
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Quantitative phase imaging to study transmembrane water fluxes regulated by CFTR and AQP3 in living human airway epithelial CFBE cells and CHO cells.

Plos One
J Llinares, A Cantereau, L Froux, F Becq
Publication Date: 2020

Variant appearance in text: CFTR: F508del
PMID: 32469934
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The Changing Epidemiology of Cystic Fibrosis: Incidence, Survival and Impact of the CFTR Gene Discovery.

Genes
V Scotet, C L'Hostis, C Férec
Publication Date: 2020-05-26

Variant appearance in text: CFTR: Phe508del
PMID: 32466381
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CFTR promotes malignant glioma development via up-regulation of Akt/Bcl2-mediated anti-apoptosis pathway.

Journal Of Cellular And Molecular Medicine
M Zhao, J Zhang, W Huang, J Dong, J Guo, KP U, Z Weng, S Liu, HC Chan, H Feng, X Jiang
Publication Date: 2020-05-28

Variant appearance in text: CFTR: F508del
PMID: 32463592
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A brief history of organoids.

American Journal Of Physiology. Cell Physiology
C Corrò, L Novellasdemunt, VSW Li
Publication Date: 2020-05-27

Variant appearance in text: CFTR: F508del
PMID: 32459504
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Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis.

Canadian Respiratory Journal
H Shao, J Hua, Q Wu, X Li, M Zhang, H Wang, J Wu, L Xu, Y Xie, L Li, H Chen
Publication Date: 2020

Variant appearance in text: CFTR: F508del
PMID: 32454915
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The intestinal virome in children with cystic fibrosis differs from healthy controls.

Plos One
MJ Coffey, I Low, S Stelzer-Braid, B Wemheuer, M Garg, T Thomas, A Jaffe, WD Rawlinson, CY Ooi
Publication Date: 2020

Variant appearance in text: CFTR: F508del
PMID: 32442222
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Correctors modify the bicarbonate permeability of F508del-CFTR.

Scientific Reports
M Fiore, C Picco, O Moran
Publication Date: 2020-05-21

Variant appearance in text: CFTR: F508del
PMID: 32439937
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ERp29 as a regulator of Insulin biosynthesis.

Plos One
J Viviano, M Brecker, C Ferrara-Cook, L Suaud, RC Rubenstein
Publication Date: 2020

Variant appearance in text: CFTR: F508del
PMID: 32433667
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Host-microbe cross-talk in the lung microenvironment: implications for understanding and treating chronic lung disease.

The European Respiratory Journal
R Gosens, PS Hiemstra, IM Adcock, KR Bracke, RP Dickson, PM Hansbro, S Krauss-Etschmann, HH Smits, FRM Stassen, S Bartel
Publication Date: 2020-05-19

Variant appearance in text: CFTR: Phe508del
PMID: 32430415
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The CFTR Mutation c.3453G > C (D1152H) Confers an Anion Selectivity Defect in Primary Airway Tissue that Can Be Rescued by Ivacaftor.

Journal Of Personalized Medicine
O Laselva, TJ Moraes, G He, C Bartlett, I Szàrics, H Ouyang, TNA Gunawardena, L Strug, CE Bear, T Gonska
Publication Date: 2020-05-13

Variant appearance in text: CFTR: F508del
PMID: 32414100
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Transcriptomic and Proteostasis Networks of CFTR and the Development of Small Molecule Modulators for the Treatment of Cystic Fibrosis Lung Disease.

Genes
MD Strub, PB McCray
Publication Date: 2020-05-13

Variant appearance in text: CFTR: Phe508del
PMID: 32414011
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The Microbiome in Cystic Fibrosis Pulmonary Disease.

Genes
A Françoise, G Héry-Arnaud
Publication Date: 2020-05-11

Variant appearance in text: CFTR: F508del
PMID: 32403302
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Synthesis and Therapeutic Applications of Iminosugars in Cystic Fibrosis.

International Journal Of Molecular Sciences
A Esposito, D D'Alonzo, M Fenza, E Gregorio, A Tamanini, G Lippi, MC Dechecchi, A Guaragna
Publication Date: 2020-05-09

Variant appearance in text: CFTR: F508del
PMID: 32397443
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Factors associated with severe lung disease in an adult population with cystic fibrosis: a single center experience.

Turkish Journal Of Medical Sciences
B Er, E Çelebioğlu, E Yalçin, D Doğru, Ö Erden Aki, Ö Uzun, M Akova, U Özçelik, N Kiper, S Emri
Publication Date: 2020-05-12

Variant appearance in text: CFTR: F508del
PMID: 32394679
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Novel targeted drugs approved by the NMPA and FDA in 2019.

Signal Transduction And Targeted Therapy
W Wang, Q Sun
Publication Date: 2020-05-08

Variant appearance in text: CFTR: F508del
PMID: 32385226
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Improved residual fat malabsorption and growth in children with cystic fibrosis treated with a novel oral structured lipid supplement: A randomized controlled trial.

Plos One
VA Stallings, AM Tindall, MR Mascarenhas, A Maqbool, JI Schall
Publication Date: 2020

Variant appearance in text: CFTR: F508del
PMID: 32384122
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A multinational report to characterise SARS-CoV-2 infection in people with cystic fibrosis.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
R Cosgriff, S Ahern, SC Bell, K Brownlee, PR Burgel, C Byrnes, H Corvol, SY Cheng, A Elbert, A Faro, CH Goss, V Gulmans, BC Marshall, E McKone, PG Middleton, R Ruseckaite, AL Stephenson, SB Carr
Publication Date: 2020-04-25

Variant appearance in text: CFTR: F508del
PMID: 32376098
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iPSC-Derived Intestinal Organoids from Cystic Fibrosis Patients Acquire CFTR Activity upon TALEN-Mediated Repair of the p.F508del Mutation.

Molecular Therapy. Methods & Clinical Development
A Fleischer, S Vallejo-Díez, JM Martín-Fernández, A Sánchez-Gilabert, M Castresana, A Del Pozo, A Esquisabel, S Ávila, JL Castrillo, E Gaínza, JL Pedraz, M Viñas, D Bachiller
Publication Date: 2020-06-12

Variant appearance in text: CFTR: F508del
PMID: 32373648
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What Role Does CFTR Play in Development, Differentiation, Regeneration and Cancer?

International Journal Of Molecular Sciences
MD Amaral, MC Quaresma, I Pankonien
Publication Date: 2020-04-29

Variant appearance in text: CFTR: F508del
PMID: 32365523
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The true panel of cystic fibrosis mutations in the Sicilian population.

Bmc Medical Genetics
S Chamayou, M Sicali, D Lombardo, E Maglia, A Liprino, C Cardea, M Fichera, E Venti, A Guglielmino
Publication Date: 2020-05-01

Variant appearance in text: CFTR: F508del
PMID: 32357917
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The Contribution of Membrane Vesicles to Bacterial Pathogenicity in Cystic Fibrosis Infections and Healthcare Associated Pneumonia.

Frontiers In Microbiology
J Vitse, B Devreese
Publication Date: 2020

Variant appearance in text: CFTR: Phe508del
PMID: 32328052
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Cell free DNA from respiratory pathogens is detectable in the blood plasma of Cystic Fibrosis patients.

Scientific Reports
SLR Barrett, EA Holmes, DR Long, RC Shean, GE Bautista, S Ravishankar, V Peddu, BT Cookson, PK Singh, AL Greninger, SJ Salipante
Publication Date: 2020-04-23

Variant appearance in text: CFTR: F508del
PMID: 32327704
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Evaluation of a five-year predicted survival model for cystic fibrosis in later time periods.

Scientific Reports
TG Liou, C Kartsonaki, RH Keogh, FR Adler
Publication Date: 2020-04-20

Variant appearance in text: CFTR: F508del
PMID: 32313191
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The bidirectional relationship between CFTR and lipids.

Communications Biology
KA Cottrill, CM Farinha, NA McCarty
Publication Date: 2020-04-20

Variant appearance in text: CFTR: F508del
PMID: 32313074
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Assessment of Selected Parameters of Liver Fibrosis and Inflammation in Patients with Diagnosed Cystic Fibrosis.

Mediators Of Inflammation
S Więcek, H Woś, A Pogorzelski, B Kordys-Darmolinska, H Mazurek, U Grzybowska-Chlebowczyk
Publication Date: 2020

Variant appearance in text: CFTR: F508del
PMID: 32308556
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Nano-scientific Application of Atomic Force Microscopy in Pathology: from Molecules to Tissues.

International Journal Of Medical Sciences
TM Kiio, S Park
Publication Date: 2020

Variant appearance in text: CFTR: F508del
PMID: 32308537
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Real-World Outcomes Among Patients with Cystic Fibrosis Treated with Ivacaftor: 2012-2016 Experience.

Pulmonary Therapy
M Higgins, N Volkova, K Moy, BC Marshall, D Bilton
Publication Date: 2020-04-18

Variant appearance in text: CFTR: F508del
PMID: 32304091
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Blood co-expression modules identify potential modifier genes of diabetes and lung function in cystic fibrosis.

Plos One
F Pineau, D Caimmi, M Magalhães, E Fremy, A Mohamed, L Mely, S Leroy, M Murris, M Claustres, R Chiron, A De Sario
Publication Date: 2020

Variant appearance in text: CFTR: Phe508del
PMID: 32302349
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Advances in CRISPR/Cas-based Gene Therapy in Human Genetic Diseases.

Theranostics
SS Wu, QC Li, CQ Yin, W Xue, CQ Song
Publication Date: 2020

Variant appearance in text: CFTR: F508del
PMID: 32292501
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Elexacaftor-Tezacaftor-Ivacaftor: The First Triple-Combination Cystic Fibrosis Transmembrane Conductance Regulator Modulating Therapy.

The Journal Of Pediatric Pharmacology And Therapeutics : Jppt : The Official Journal Of Ppag
K Ridley, M Condren
Publication Date: 2020

Variant appearance in text: CFTR: F508del
PMID: 32265602
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Increased extracellular vesicles mediate inflammatory signalling in cystic fibrosis.

Thorax
Z Useckaite, MP Ward, A Trappe, R Reilly, J Lennon, H Davage, D Matallanas, H Cassidy, ET Dillon, K Brennan, SL Doyle, S Carter, S Donnelly, B Linnane, EF McKone, P McNally, JA Coppinger
Publication Date: 2020-04-07

Variant appearance in text: CFTR: Phe508del
PMID: 32265339
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Functional and Pharmacological Characterization of the Rare CFTR Mutation W361R.

Frontiers In Pharmacology
A Billet, A Elbahnsi, M Jollivet-Souchet, B Hoffmann, JP Mornon, I Callebaut, F Becq
Publication Date: 2020

Variant appearance in text: CFTR: F508del
PMID: 32256364
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Recent Strategic Advances in CFTR Drug Discovery: An Overview.

International Journal Of Molecular Sciences
M Rusnati, P D'Ursi, N Pedemonte, C Urbinati, RC Ford, E Cichero, M Uggeri, A Orro, P Fossa
Publication Date: 2020-03-31

Variant appearance in text: CFTR: F508del
PMID: 32244346
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Treatment of Cystic Fibrosis Patients Homozygous for F508del with Lumacaftor-Ivacaftor (Orkambi®) Restores Defective CFTR Channel Function in Circulating Mononuclear Cells.

International Journal Of Molecular Sciences
M Favia, C Gallo, L Guerra, D De Venuto, A Diana, AM Polizzi, P Montemurro, MA Mariggiò, G Leonetti, A Manca, V Casavola, M Conese
Publication Date: 2020-03-31

Variant appearance in text: CFTR: F508del
PMID: 32244302
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Lung function and microbiota diversity in cystic fibrosis.

Microbiome
L Cuthbertson, AW Walker, AE Oliver, GB Rogers, DW Rivett, TH Hampton, A Ashare, JS Elborn, A De Soyza, MP Carroll, LR Hoffman, C Lanyon, SM Moskowitz, GA O'Toole, J Parkhill, PJ Planet, CC Teneback, MM Tunney, JB Zuckerman, KD Bruce, CJ van der Gast
Publication Date: 2020-04-02

Variant appearance in text: CFTR: F508del
PMID: 32238195
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Abstracts from the 25th Italian Congress of Cystic Fibrosis and the 15th National Congress of Cystic Fibrosis Italian Society : Assago, Milan. 10 - 12 October 2019.

Italian Journal Of Pediatrics
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Publication Date: 2020-04-01

Variant appearance in text: CFTR: F508del
PMID: 32234058
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000003084.6 c.1523_1525del p.Phe508_Gly509delinsCys inframe_deletion 11/27 -
ENST00000426809.1 c.1433_1435del p.Phe478_Gly479delinsCys inframe_deletion 10/26 -
ENST00000454343.1 c.1340_1342del p.Phe447_Gly448delinsCys inframe_deletion 10/26 -
NM_000492.4 c.1523_1525del p.Phe508_Gly509delinsCys inframe_deletion 11/27 -
NR_149084.1 n.221+1138_221+1140del - intron_variant,non_coding_transcript_variant - 2/2