CFTR c.1522_1524del ;(p.F508del)

Variant ID: 7-117199647-CTTT-C

NM_000492.3(CFTR):c.1522_1524del;(p.F508del)

This variant was identified in 676 publications

View GRCh38 version.




Publications:


CAGE sequencing reveals CFTR-dependent dysregulation of type I IFN signaling in activated cystic fibrosis macrophages.

Science Advances
Gillan, Jonathan L JL; Chokshi, Mithil M; Hardisty, Gareth R GR; Clohisey Hendry, Sara S; Prasca-Chamorro, Daniel D; Robinson, Nicola J NJ; Lasota, Benjamin B; Clark, Richard R; Murphy, Lee L; Whyte, Moira K B MKB; Baillie, J Kenneth JK; Davidson, Donald J DJ; Bao, Gang G; Gray, Robert D RD
Publication Date: 2023-05-26

Variant appearance in text: CFTR: F508del
PubMed Link: 37235648
Variant Present in the following documents:
  • Main text
  • sciadv.adg5128.pdf
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Registry-based study in people with cystic fibrosis and an R117H variant treated with ivacaftor.

Bmj Open Respiratory Research
Higgins, Mark M; Farietta, Thalia T; Campbell, Daniel D; Liu, Meng M; Ostrenga, Josh J; Elbert, Alexander A; Shih, Judy J; Volkova, Nataliya N
Publication Date: 2023-05

Variant appearance in text: CFTR: F508del
PubMed Link: 37230763
Variant Present in the following documents:
  • Main text
  • bmjresp-2022-001447.pdf
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Dark nanodiscs as a model membrane for evaluating membrane protein thermostability by differential scanning fluorimetry.

Biorxiv : The Preprint Server For Biology
Selvasingh, Jazlyn A JA; McDonald, Eli Fritz EF; Mckinney, Jacob R JR; Meiler, Jens J; Ledwitch, Kaitlyn V KV
Publication Date: 2023-05-09

Variant appearance in text: CFTR: F508del
PubMed Link: 37214798
Variant Present in the following documents:
  • nihpp-2023.05.08.539917v1.pdf
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Critical role of down-regulated in adenoma bicarbonate transporter in linaclotide stimulated intestinal bicarbonate secretion.

Biorxiv : The Preprint Server For Biology
Sarthi, Jessica B JB; Trumbull, Annie M AM; Abazari, Shayda M SM; van Unen, Vincent V; Chan, Joshua E JE; Joo, Nam Soo NS; Jiang, Yanfen Y; Kuo, Calvin J CJ; Sellers, Zachary M ZM
Publication Date: 2023-05-07

Variant appearance in text: CFTR: F508del
PubMed Link: 37205513
Variant Present in the following documents:
  • Main text
  • nihpp-2023.05.05.539132v1.pdf
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Brazilian guidelines for the pharmacological treatment of the pulmonary symptoms of cystic fibrosis. Official document of the Sociedade Brasileira de Pneumologia e Tisiologia (SBPT, Brazilian Thoracic Association).

Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia
Athanazio, Rodrigo Abensur RA; Tanni, Suzana Erico SE; Ferreira, Juliana J; Dalcin, Paulo de Tarso Roth PTR; Fuccio, Marcelo B de MB; Esposito, Concetta C; Canan, Mariane Gonçalves Martynychen MGM; Coelho, Liana Sousa LS; Firmida, Mônica de Cássia MC; Almeida, Marina Buarque de MB; Marostica, Paulo José Cauduro PJC; Monte, Luciana de Freitas Velloso LFV; Souza, Edna Lúcia EL; Pinto, Leonardo Araujo LA; Rached, Samia Zahi SZ; Oliveira, Verônica Stasiak Bednarczuk de VSB; Riedi, Carlos Antonio CA; Silva Filho, Luiz Vicente Ribeiro Ferreira da LVRFD
Publication Date: 2023

Variant appearance in text: CFTR: F508del
PubMed Link: 37194817
Variant Present in the following documents:
  • Main text
  • 1806-3756-jbpneu-49-02-e20230040.pdf
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Inflammation as a Regulator of the Airway Surface Liquid pH in Cystic Fibrosis.

Cells
Rehman, Tayyab T; Welsh, Michael J MJ
Publication Date: 2023-04-07

Variant appearance in text: CFTR: Phe508del
PubMed Link: 37190013
Variant Present in the following documents:
  • cells-12-01104.pdf
View BVdb publication page



Individualized approach to elexacaftor/tezacaftor/ivacaftor dosing in cystic fibrosis, in response to self-reported anxiety and neurocognitive adverse events: A case series.

Frontiers In Pharmacology
Ibrahim, Hisham H; Danish, Hammad H; Morrissey, David D; Deasy, Kevin F KF; McCarthy, Mairead M; Dorgan, James J; Fleming, Claire C; Howlett, Ciara C; Twohig, Sarah S; Vagg, Tamara T; Murphy, Desmond M DM; Maher, Michael M; Plant, Barry J BJ
Publication Date: 2023

Variant appearance in text: CFTR: Phe508del
PubMed Link: 37180712
Variant Present in the following documents:
  • Main text
  • fphar-14-1156621.pdf
View BVdb publication page



Feasibility of dynamic chest radiography to calculate lung volumes in adult people with cystic fibrosis: a pilot study.

Bmj Open Respiratory Research
FitzMaurice, Thomas Simon TS; McCann, Caroline C; Nazareth, Dilip D; Hawkes, Scott S; Shaw, Matthew M; McNamara, Paul Stephen PS; Walshaw, Martin M
Publication Date: 2023-05

Variant appearance in text: CFTR: F508del
PubMed Link: 37147023
Variant Present in the following documents:
  • bmjresp-2022-001309.pdf
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ROCK STUDY in CF: sustained anti-inflammatory effects of lumacaftor-ivacaftor in sputum and peripheral blood samples of adult patients with cystic fibrosis-an observational study.

Bmj Open Respiratory Research
Arooj, Parniya P; Morrissy, David V DV; McCarthy, Yvonne Y; Vagg, Tamara T; McCarthy, Mairead M; Fleming, Claire C; Daly, Mary M; Eustace, Joseph A JA; Murphy, Desmond M DM; Plant, B J BJ
Publication Date: 2023-05

Variant appearance in text: CFTR: Phe508del
PubMed Link: 37130650
Variant Present in the following documents:
  • Main text
  • bmjresp-2022-001590.pdf
View BVdb publication page



Survey of exercise testing and training in cystic fibrosis clinics in the UK: a decade of progress.

Bmj Open
Tomlinson, Owen William OW; Saynor, Zoe L ZL; Stevens, Daniel D; Antoun, Joe J; Urquhart, Don S DS; Williams, Craig Anthony CA
Publication Date: 2023-04-28

Variant appearance in text: CFTR: f508del
PubMed Link: 37116999
Variant Present in the following documents:
  • bmjopen-2023-072461.pdf
View BVdb publication page



Antibiotic Therapy for Pulmonary Exacerbations in Cystic Fibrosis-A Single-Centre Prospective Observational Study.

Antibiotics (Basel, Switzerland)
Schwarz, Carsten C; Wimmer, Eliana E; Holz, Frederik F; Grehn, Claudia C; Staab, Doris D; Eschenhagen, Patience Ndidi PN
Publication Date: 2023-04-09

Variant appearance in text: CFTR: Phe508del
PubMed Link: 37107096
Variant Present in the following documents:
  • antibiotics-12-00734.pdf
View BVdb publication page



The Cystic Fibrosis Transmembrane Conductance Regulator Gene (CFTR) Is under Post-Transcriptional Control of microRNAs: Analysis of the Effects of agomiRNAs Mimicking miR-145-5p, miR-101-3p, and miR-335-5p.

Non-Coding Rna
Papi, Chiara C; Gasparello, Jessica J; Zurlo, Matteo M; Cosenza, Lucia Carmela LC; Gambari, Roberto R; Finotti, Alessia A
Publication Date: 2023-04-18

Variant appearance in text: CFTR: F508del
PubMed Link: 37104011
Variant Present in the following documents:
  • ncrna-09-00029.pdf
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Long-term effects of lumacaftor/ivacaftor on paranasal sinus abnormalities in children with cystic fibrosis detected with magnetic resonance imaging.

Frontiers In Pharmacology
Wucherpfennig, Lena L; Wuennemann, Felix F; Eichinger, Monika M; Seitz, Angelika A; Baumann, Ingo I; Stahl, Mirjam M; Graeber, Simon Y SY; Zhao, Shengkai S; Chung, Jaehi J; Schenk, Jens-Peter JP; Alrajab, Abdulsattar A; Kauczor, Hans-Ulrich HU; Mall, Marcus A MA; Sommerburg, Olaf O; Wielpütz, Mark O MO
Publication Date: 2023

Variant appearance in text: CFTR: F508del
PubMed Link: 37101549
Variant Present in the following documents:
  • Main text
  • fphar-14-1161891.pdf
View BVdb publication page



A novel thiol-saccharide mucolytic for the treatment of muco-obstructive lung diseases.

The European Respiratory Journal
Addante, Annalisa A; Raymond, Wilfred W; Gitlin, Irina I; Charbit, Annabelle A; Orain, Xavier X; Wolfe Scheffler, Aaron A; Kuppe, Aditi A; Duerr, Julia J; Daniltchenko, Maria M; Drescher, Marika M; Graeber, Simon Y SY; Healy, Anne-Marie AM; Oscarson, Stefan S; Fahy, John V JV; Mall, Marcus A MA
Publication Date: 2023-04-20

Variant appearance in text: CFTR: F508del
PubMed Link: 37080569
Variant Present in the following documents:
  • Main text
  • ERJ-02022-2022.Supplement.pdf
  • ERJ-02022-2022.pdf
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Pathogenesis of Achromobacter xylosoxidans respiratory infections: colonization and persistence of airway epithelia and differential gene expression in synthetic cystic fibrosis sputum medium.

Biorxiv : The Preprint Server For Biology
Billiot, Caitlin E CE; McDaniel, Melissa S MS; Swords, W Edward WE; Lindgren, Natalie R NR
Publication Date: 2023-04-05

Variant appearance in text: CFTR: F508del
PubMed Link: 37066231
Variant Present in the following documents:
  • Main text
  • nihpp-2023.04.04.535650v1.pdf
View BVdb publication page



Nutritional impact of CFTR modulators in children with cystic fibrosis.

Frontiers In Pediatrics
Gaschignard, Margaux M; Beaufils, Fabien F; Lussac-Sorton, Florian F; Gallet, Pauline P; Clouzeau, Haude H; Menard, Joris J; Costanzo, Aurélie A; Nouard, Lucie L; Delhaes, Laurence L; Tetard, Candice C; Lamireau, Thierry T; Fayon, Michael M; Bui, Stéphanie S; Enaud, Raphaël R
Publication Date: 2023

Variant appearance in text: CFTR: Phe508del
PubMed Link: 37063653
Variant Present in the following documents:
  • Main text
  • fped-11-1130790.pdf
View BVdb publication page



Real-world disparities and ethical considerations with access to CFTR modulator drugs: Mind the gap!

Frontiers In Pharmacology
Zampoli, M M; Morrow, B M BM; Paul, G G
Publication Date: 2023

Variant appearance in text: CFTR: F508del
PubMed Link: 37050905
Variant Present in the following documents:
  • Main text
  • fphar-14-1163391.pdf
View BVdb publication page



An ALARMINg Type 2 Response in Cystic Fibrosis - The Key to Understanding ABPA?

American Journal Of Respiratory And Critical Care Medicine
Bojanowski, Christine M CM; Bitoun, Jacob P JP; Kolls, Jay K JK
Publication Date: 2023-04-06

Variant appearance in text: CFTR: F508del
PubMed Link: 37023264
Variant Present in the following documents:
  • Main text
  • rccm.202303-0580ED.pdf
View BVdb publication page



Easy-to-Build and Reusable Microfluidic Device for the Dynamic Culture of Human Bronchial Cystic Fibrosis Epithelia.

Acs Biomaterials Science & Engineering
Mazio, Claudia C; Scognamiglio, Laura S LS; Passariello, Roberta R; Panzetta, Valeria V; Casale, Costantino C; Urciuolo, Francesco F; Galietta, Luis J V LJV; Imparato, Giorgia G; Netti, Paolo A PA
Publication Date: 2023-04-05

Variant appearance in text: CFTR: F508del
PubMed Link: 37019688
Variant Present in the following documents:
  • Main text
  • ab2c01460.pdf
View BVdb publication page



Cystic Fibrosis Screen Positive, Inconclusive Diagnosis Genotypes in the Cystic Fibrosis Registry.

Annals Of The American Thoracic Society
Thompson, Cassandra C; Middleton, Peter G PG
Publication Date: 2023-04

Variant appearance in text: CFTR: Phe508del
PubMed Link: 37000148
Variant Present in the following documents:
  • AnnalsATS.202212-1051ED.pdf
View BVdb publication page



Modern Electrochemical Biosensing Based on Nucleic Acids and Carbon Nanomaterials.

Sensors (Basel, Switzerland)
Szymczyk, Anna A; Ziółkowski, Robert R; Malinowska, Elżbieta E
Publication Date: 2023-03-17

Variant appearance in text: CFTR: F508del
PubMed Link: 36991941
Variant Present in the following documents:
  • Main text
  • sensors-23-03230.pdf
View BVdb publication page



Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor-Tezacaftor-Ivacaftor.

International Journal Of Neonatal Screening
Patel, Payal P; Yeley, Jana J; Brown, Cynthia C; Wesson, Melissa M; Lesko, Barbara G BG; Slaven, James E JE; Chmiel, James F JF; Jain, Raksha R; Sanders, Don B DB
Publication Date: 2023-02-21

Variant appearance in text: CFTR: F508del
PubMed Link: 36975847
Variant Present in the following documents:
  • Main text
  • IJNS-09-00010.pdf
View BVdb publication page



A red light-triggered chemical tool for sequence-specific alkylation of G-quadruplex and I-motif DNA.

Nucleic Acids Research
Cadoni, Enrico E; De Paepe, Lessandro L; Colpaert, Gertjan G; Tack, Ruben R; Waegeman, Dries D; Manicardi, Alex A; Madder, Annemieke A
Publication Date: 2023-03-27

Variant appearance in text: CFTR: F508del
PubMed Link: 36971129
Variant Present in the following documents:
  • gkad189.pdf
View BVdb publication page



CFTR High Expresser Cells in cystic fibrosis and intestinal diseases.

Heliyon
Carlos Dos Reis, Diego D; Dastoor, Parinaz P; Santos, Anderson Kenedy AK; Sumigray, Kaelyn K; Ameen, Nadia A NA
Publication Date: 2023-03

Variant appearance in text: CFTR: F508del
PubMed Link: 36967909
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Immunosuppression reduces rAAV2.5T neutralizing antibodies that limit efficacy following repeat dosing to ferret lungs.

Molecular Therapy. Methods & Clinical Development
Tang, Yinghua Y; Fakhari, Shahab S; Huntemann, Eric D ED; Feng, Zehua Z; Wu, Peipei P; Feng, William Y WY; Lei, Junying J; Yuan, Feng F; Excoffon, Katherine J KJ; Wang, Kai K; Limberis, Maria P MP; Kolbeck, Roland R; Yan, Ziying Z; Engelhardt, John F JF
Publication Date: 2023-06-08

Variant appearance in text: CFTR: F508del
PubMed Link: 36950451
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
View BVdb publication page



Association of Oxygen Therapy with the Natural Disease Progression of Cystic Fibrosis: A Multi-State Model of the European Cystic Fibrosis Society Patient Registry.

Therapeutics And Clinical Risk Management
Gambazza, Simone S; Orenti, Annalisa A; Pizzamiglio, Giovanna G; Zolin, Anna A; Colombo, Carla C; Laquintana, Dario D; Ambrogi, Federico F; ,
Publication Date: 2023

Variant appearance in text: CFTR: F508del
PubMed Link: 36935771
Variant Present in the following documents:
  • tcrm-19-255.pdf
View BVdb publication page



Genetic outline of the hermeneutics of the diseases connection phenomenon in human.

Vavilovskii Zhurnal Genetiki I Selektsii
Bragina, E Yu EY; Puzyrev, V P VP
Publication Date: 2023-03

Variant appearance in text: CFTR: F508del
PubMed Link: 36923482
Variant Present in the following documents:
  • Main text
  • VJGB-27-2303.pdf
View BVdb publication page



Mycobacterium abscessus Infections in Cystic Fibrosis Individuals: A Review on Therapeutic Options.

International Journal Of Molecular Sciences
Recchia, Deborah D; Stelitano, Giovanni G; Stamilla, Alessandro A; Gutierrez, Damaris L DL; Degiacomi, Giulia G; Chiarelli, Laurent R LR; Pasca, Maria Rosalia MR
Publication Date: 2023-02-27

Variant appearance in text: CFTR: F508del
PubMed Link: 36902066
Variant Present in the following documents:
  • ijms-24-04635.pdf
View BVdb publication page



The Cystic Fibrosis Upper and Lower Airway Metagenome.

Microbiology Spectrum
Pienkowska, Katarzyna K; Pust, Marie-Madlen MM; Gessner, Margaux M; Gaedcke, Svenja S; Thavarasa, Ajith A; Rosenboom, Ilona I; Morán Losada, Patricia P; Minso, Rebecca R; Arnold, Christin C; Hedtfeld, Silke S; Dorda, Marie M; Wiehlmann, Lutz L; Mainz, Jochen G JG; Klockgether, Jens J; Tümmler, Burkhard B
Publication Date: 2023-03-09

Variant appearance in text: CFTR: Phe508del
PubMed Link: 36892308
Variant Present in the following documents:
  • Main text
  • spectrum.03633-22.pdf
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SLC26A9 in airways and intestine: secretion or absorption?

Channels (Austin, Tex.)
Kunzelmann, Karl K; Centeio, Raquel R; Ousingsawat, Jiraporn J; Talbi, Khaoula K; Seidler, Ursula U; Schreiber, Rainer R
Publication Date: 2023-12

Variant appearance in text: CFTR: F508del
PubMed Link: 36866602
Variant Present in the following documents:
  • Main text
  • KCHL_17_2186434.pdf
View BVdb publication page



De Novo Generation of Pulmonary Ionocytes from Normal and Cystic Fibrosis Human Induced Pluripotent Stem Cells.

American Journal Of Respiratory And Critical Care Medicine
Wang, Ruobing R; Simone-Roach, Chantelle C; Lindstrom-Vautrin, Jonathan J; Wang, Feiya F; Rollins, Stuart S; Bawa, Pushpinder Singh PS; Lu, Junjie J; Tang, Yang Y; Beermann, Mary Lou ML; Schlaeger, Thorsten T; Mahoney, John J; Rowe, Steven M SM; Hawkins, Finn J FJ; Kotton, Darrell N DN
Publication Date: 2023-03-01

Variant appearance in text: CFTR: F508del
PubMed Link: 36857488
Variant Present in the following documents:
  • Main text
  • rccm.202205-1010LE.pdf
View BVdb publication page



Precision information extraction for rare disease epidemiology at scale.

Journal Of Translational Medicine
Kariampuzha, William Z WZ; Alyea, Gioconda G; Qu, Sue S; Sanjak, Jaleal J; Mathé, Ewy E; Sid, Eric E; Chatelaine, Haley H; Yadaw, Arjun A; Xu, Yanji Y; Zhu, Qian Q
Publication Date: 2023-02-28

Variant appearance in text: CFTR: F508del
PubMed Link: 36855134
Variant Present in the following documents:
  • 12967_2023_4011_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics
Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF
Publication Date: 2023-02-28

Variant appearance in text: CFTR: 1522_1524del
PubMed Link: 36855133
Variant Present in the following documents:
  • 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page