Variant ID: 7-117199647-CTTT-C

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

This variant was identified in 603 publications

View GRCh38 version.




Publications:


Chronic cough in cystic fibrosis: the effect of modulator therapy on objective 24-h cough monitoring.

Erj Open Research
Zhang, Mengru M; Brindle, Kayleigh K; Robinson, Melanie M; Ingram, Debbie D; Cavany, Tanya T; Morice, Alyn A
Publication Date: 2022-04

Variant appearance in text: CFTR: F508del
PubMed Link: 35509439
Variant Present in the following documents:
  • 00031-2022.pdf
View BVdb publication page



Cardiac sarcoidosis in an adult person with cystic fibrosis: a case report.

Sarcoidosis, Vasculitis, And Diffuse Lung Diseases : Official Journal Of Wasog
FitzMaurice, Thomas Simon TS; Cooper, Robert M RM; Snowdon, Richard R; Arzanauskaite, Monika M; Nazareth, Dilip D; Walshaw, Martin M
Publication Date: 2022

Variant appearance in text: CFTR: F508del
PubMed Link: 35494166
Variant Present in the following documents:
  • SVDLD-39-2.pdf
View BVdb publication page



Can continuous glucose monitoring predict cystic fibrosis-related diabetes and worse clinical outcome?

Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia
Zorron, Mariana M; Marson, Fernando Augusto Lima FAL; Morcillo, André Moreno AM; Gonçalves, Aline Cristina AC; El Beck, Mayra de Souza MS; Ribeiro, José Dirceu JD; Ribeiro, Antonio Fernando AF
Publication Date: 2022

Variant appearance in text: CFTR: Phe508del
PubMed Link: 35475864
Variant Present in the following documents:
  • 1806-3756-jbpneu-48-02-e20210307.pdf
View BVdb publication page



Seamless Gene Correction in the Human Cystic Fibrosis Transmembrane Conductance Regulator Locus by Vector Replacement and Vector Insertion Events.

Frontiers In Genome Editing
Suzuki, Shingo S; Chosa, Keisuke K; Barillà, Cristina C; Yao, Michael M; Zuffardi, Orsetta O; Kai, Hirofumi H; Shuto, Tsuyoshi T; Suico, Mary Ann MA; Kan, Yuet W YW; Sargent, R Geoffrey RG; Gruenert, Dieter C DC
Publication Date: 2022

Variant appearance in text: CFTR: F508del
PubMed Link: 35465025
Variant Present in the following documents:
  • DataSheet1.pdf
  • fgeed-04-843885.pdf
View BVdb publication page



Downregulation of epithelial sodium channel (ENaC) activity in cystic fibrosis cells by epigenetic targeting.

Cellular And Molecular Life Sciences : Cmls
Blaconà, Giovanna G; Raso, Roberto R; Castellani, Stefano S; Pierandrei, Silvia S; Del Porto, Paola P; Ferraguti, Giampiero G; Ascenzioni, Fiorentina F; Conese, Massimo M; Lucarelli, Marco M
Publication Date: 2022-04-25

Variant appearance in text: CFTR: F508del
PubMed Link: 35462606
Variant Present in the following documents:
  • 18_2022_Article_4190.pdf
View BVdb publication page



Immunogenicity of the COVID-19 BNT162b2 vaccine in adolescents and young adults with cystic fibrosis.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Michos, Athanasios A; Filippatos, Filippos F; Tatsi, Elizabeth-Barbara EB; Dellis, Charilaos C; Efthymiou, Vasiliki V; Zarkada, Ioanna I; Troupi, Evgenia E; Syriopoulou, Vasiliki V; Loukou, Ioanna I
Publication Date: 2022-04-14

Variant appearance in text: CFTR: F508del
PubMed Link: 35461782
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



ABC Transporters in Human Diseases: Future Directions and Therapeutic Perspectives.

International Journal Of Molecular Sciences
Falguières, Thomas T
Publication Date: 2022-04-12

Variant appearance in text: CFTR: F508del
PubMed Link: 35457067
Variant Present in the following documents:
  • ijms-23-04250.pdf
View BVdb publication page



The Role of Propranolol as a Repurposed Drug in Rare Vascular Diseases.

International Journal Of Molecular Sciences
Cuesta, Angel M AM; Gallardo-Vara, Eunate E; Casado-Vela, Juan J; Recio-Poveda, Lucía L; Botella, Luisa-María LM; Albiñana, Virginia V
Publication Date: 2022-04-11

Variant appearance in text: CFTR: F508del
PubMed Link: 35457036
Variant Present in the following documents:
  • ijms-23-04217.pdf
View BVdb publication page



Clinical Impact of Aspergillus fumigatus in Children with Cystic Fibrosis.

Microorganisms
Fainardi, Valentina V; Sodini, Chiara C; Deolmi, Michela M; Ciuni, Andrea A; Skenderaj, Kaltra K; Stabile, Maria Bice MB; Neglia, Cosimo C; Zani, Elena Mariotti EM; Spaggiari, Cinzia C; Sverzellati, Nicola N; Esposito, Susanna S; Pisi, Giovanna G
Publication Date: 2022-03-29

Variant appearance in text: CFTR: F508del
PubMed Link: 35456789
Variant Present in the following documents:
  • microorganisms-10-00739.pdf
View BVdb publication page



Highway to Cell: Selection of the Best Cell-Penetrating Peptide to Internalize the CFTR-Stabilizing iCAL36 Peptide.

Pharmaceutics
Seisel, Quentin Q; Lakumpa, Israpong I; Josse, Emilie E; Vivès, Eric E; Varilh, Jessica J; Taulan-Cadars, Magali M; Boisguérin, Prisca P
Publication Date: 2022-04-07

Variant appearance in text: CFTR: Phe508del
PubMed Link: 35456644
Variant Present in the following documents:
  • pharmaceutics-14-00808.pdf
View BVdb publication page



CFTR Modulation Reduces SARS-CoV-2 Infection in Human Bronchial Epithelial Cells.

Cells
Lotti, Virginia V; Merigo, Flavia F; Lagni, Anna A; Di Clemente, Andrea A; Ligozzi, Marco M; Bernardi, Paolo P; Rossini, Giada G; Concia, Ercole E; Plebani, Roberto R; Romano, Mario M; Sbarbati, Andrea A; Sorio, Claudio C; Gibellini, Davide D
Publication Date: 2022-04-15

Variant appearance in text: CFTR: F508del
PubMed Link: 35456026
Variant Present in the following documents:
  • cells-11-01347.pdf
View BVdb publication page



Theratyping of the Rare CFTR Variants E193K and R334W in Rectal Organoid-Derived Epithelial Monolayers.

Journal Of Personalized Medicine
Ciciriello, Fabiana F; Bijvelds, Marcel J C MJC; Alghisi, Federico F; Meijsen, Kelly F KF; Cristiani, Luca L; Sorio, Claudio C; Melotti, Paola P; Fiocchi, Alessandro G AG; Lucidi, Vincenzina V; De Jonge, Hugo R HR
Publication Date: 2022-04-14

Variant appearance in text: CFTR: F508del
PubMed Link: 35455747
Variant Present in the following documents:
  • jpm-12-00632.pdf
View BVdb publication page



Oral Glucose Tolerance Test in Patients with Cystic Fibrosis Compared to the Overweight and Obese: A Different Approach in Understanding the Results.

Children (Basel, Switzerland)
Mogoi, Mirela M; Pop, Liviu Laurentiu LL; Dediu, Mihaela M; Ciuca, Ioana Mihaiela IM
Publication Date: 2022-04-08

Variant appearance in text: CFTR: F508del
PubMed Link: 35455577
Variant Present in the following documents:
  • children-09-00533.pdf
View BVdb publication page



Cilia Stimulatory and Antibacterial Activities of T2R Bitter Taste Receptor Agonist Diphenhydramine: Insights into Repurposing Bitter Drugs for Nasal Infections.

Pharmaceuticals (Basel, Switzerland)
Kuek, Li Eon LE; McMahon, Derek B DB; Ma, Ray Z RZ; Miller, Zoey A ZA; Jolivert, Jennifer F JF; Adappa, Nithin D ND; Palmer, James N JN; Lee, Robert J RJ
Publication Date: 2022-04-06

Variant appearance in text: CFTR: F508del
PubMed Link: 35455449
Variant Present in the following documents:
  • pharmaceuticals-15-00452.pdf
View BVdb publication page



Ion Channels and Transporters as Therapeutic Agents: From Biomolecules to Supramolecular Medicinal Chemistry.

Biomedicines
Picci, Giacomo G; Marchesan, Silvia S; Caltagirone, Claudia C
Publication Date: 2022-04-12

Variant appearance in text: CFTR: F508del
PubMed Link: 35453638
Variant Present in the following documents:
  • biomedicines-10-00885.pdf
View BVdb publication page



Elastic mucus strands impair mucociliary clearance in cystic fibrosis pigs.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Pino-Argumedo, Maria I MI; Fischer, Anthony J AJ; Hilkin, Brieanna M BM; Gansemer, Nicholas D ND; Allen, Patrick D PD; Hoffman, Eric A EA; Stoltz, David A DA; Welsh, Michael J MJ; Abou Alaiwa, Mahmoud H MH
Publication Date: 2022-03-29

Variant appearance in text: CFTR: Phe508del
PubMed Link: 35324331
Variant Present in the following documents:
  • pnas.202121731.pdf
View BVdb publication page



Risk Assessment for Patients with Chronic Respiratory Conditions in the Context of the SARS-CoV-2 Pandemic Statement of the German Respiratory Society with the Support of the German Association of Chest Physicians.

Respiration; International Review Of Thoracic Diseases
Lommatzsch, Marek M; Rabe, Klaus F KF; Taube, Christian C; Joest, Marcus M; Kreuter, Michael M; Wirtz, Hubert H; Blum, Torsten Gerriet TG; Kolditz, Martin M; Geerdes-Fenge, Hilte H; Otto-Knapp, Ralf R; Häcker, Brit B; Schaberg, Tom T; Ringshausen, Felix C FC; Vogelmeier, Claus F CF; Reinmuth, Niels N; Reck, Martin M; Gottlieb, Jens J; Konstantinides, Stavros S; Meyer, Joachim J; Worth, Heinrich H; Windisch, Wolfram W; Welte, Tobias T; Bauer, Torsten T
Publication Date: 2022

Variant appearance in text: CFTR: F508del
PubMed Link: 35231915
Variant Present in the following documents:
  • res-0101-0307.pdf
View BVdb publication page



Identification and selection of healthy spermatozoa in heterozygous carriers of the Phe508del-variant of the CFTR-gene in assisted reproduction.

Scientific Reports
De Geyter, Julie J; Gallati-Kraemer, Sabina S; Zhang, Hong H; De Geyter, Christian C
Publication Date: 2022-02-03

Variant appearance in text: CFTR: Phe508del
PubMed Link: 35115637
Variant Present in the following documents:
  • 41598_2022_Article_5925.pdf
View BVdb publication page



Implementation of personalised medicine policies in mental healthcare: results from a stated preference study in the UK.

Bjpsych Open
McMichael, Alan J AJ; Kane, Joseph P M JPM; Rolison, Jonathan J JJ; O'Neill, Francis A FA; Boeri, Marco M; Kee, Frank F
Publication Date: 2022-02-03

Variant appearance in text: CFTR: Phe508del
PubMed Link: 35109949
Variant Present in the following documents:
  • S2056472422000096a.pdf
View BVdb publication page



A patient with 47, XYY mosaic karyotype and congenital absence of bilateral vas deferens: a case report and literature review.

Bmc Urology
Zou, Ci C; Yu, Dexin D; Geng, Hao H; Lan, Xiaofeng X; Sun, Wei W
Publication Date: 2022-02-02

Variant appearance in text: CFTR: F508del
PubMed Link: 35109852
Variant Present in the following documents:
  • 12894_2022_Article_965.pdf
View BVdb publication page



Hybrid Lipid/Polymer Nanoparticles to Tackle the Cystic Fibrosis Mucus Barrier in siRNA Delivery to the Lungs: Does PEGylation Make the Difference?

Acs Applied Materials & Interfaces
Conte, Gemma G; Costabile, Gabriella G; Baldassi, Domizia D; Rondelli, Valeria V; Bassi, Rosaria R; Colombo, Diego D; Linardos, Giulia G; Fiscarelli, Ersilia V EV; Sorrentino, Raffaella R; Miro, Agnese A; Quaglia, Fabiana F; Brocca, Paola P; d'Angelo, Ivana I; Merkel, Olivia M OM; Ungaro, Francesca F
Publication Date: 2022-02-02

Variant appearance in text: CFTR: F508del
PubMed Link: 35107987
Variant Present in the following documents:
  • am1c14975.pdf
View BVdb publication page



Fecal Calprotectin and Phenotype Severity in Patients with Cystic Fibrosis: A Systematic Review and Meta-Analysis.

Pediatric Gastroenterology, Hepatology & Nutrition
Talebi, Saeedeh S; Day, Andrew S AS; Khadem Rezaiyan, Majid M; Ranjbar, Golnaz G; Zarei, Mitra M; Safarian, Mahammad M; Kianifar, Hamid Reza HR
Publication Date: 2022-01

Variant appearance in text: CFTR: F508del
PubMed Link: 35087728
Variant Present in the following documents:
  • pghn-25-1.pdf
View BVdb publication page



A medium composition containing normal resting glucose that supports differentiation of primary human airway cells.

Scientific Reports
Morgan, Rachel R; Manfredi, Candela C; Easley, Kristen F KF; Watkins, Lionel D LD; Hunt, William R WR; Goudy, Steven L SL; Sorscher, Eric J EJ; Koval, Michael M; Molina, Samuel A SA
Publication Date: 2022-01-27

Variant appearance in text: CFTR: F508del
PubMed Link: 35087167
Variant Present in the following documents:
  • 41598_2022_Article_5446.pdf
View BVdb publication page



First Steps Toward Personalized Therapies for ABCA3 Deficiency.

American Journal Of Respiratory Cell And Molecular Biology
Wambach, Jennifer A JA; Nogee, Lawrence M LM; Cole, F Sessions FS
Publication Date: 2022-01-25

Variant appearance in text: CFTR: Phe508del
PubMed Link: 35077664
Variant Present in the following documents:
  • rcmb.2021-0405ED.pdf
View BVdb publication page



Identifying the Risk of Acute Exacerbation in Idiopathic Pulmonary Fibrosis: Another Step Forward.

American Journal Of Respiratory And Critical Care Medicine
Vancheri, Carlo C; Luppi, Fabrizio F
Publication Date: 2022-01-25

Variant appearance in text: CFTR: F508del
PubMed Link: 35077663
Variant Present in the following documents:
  • rccm.202110-2244ED.pdf
View BVdb publication page



Cystic Fibrosis: A Disease in Transformation, Yet More Work to be Done!

American Journal Of Respiratory And Critical Care Medicine
Ramsey, Bonnie W BW; Bell, Scott C SC
Publication Date: 2022-01-24

Variant appearance in text: CFTR: F508del
PubMed Link: 35073504
Variant Present in the following documents:
  • rccm.202112-2782ED.pdf
View BVdb publication page



Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Iscience
Wong, Sharon L SL; Awatade, Nikhil T NT; Astore, Miro A MA; Allan, Katelin M KM; Carnell, Michael J MJ; Slapetova, Iveta I; Chen, Po-Chia PC; Capraro, Alexander A; Fawcett, Laura K LK; Whan, Renee M RM; Griffith, Renate R; Ooi, Chee Y CY; Kuyucak, Serdar S; Jaffe, Adam A; Waters, Shafagh A SA
Publication Date: 2022-01-21

Variant appearance in text: CFTR: F508del
PubMed Link: 35072004
Variant Present in the following documents:
  • main.pdf
  • mmc1.pdf
View BVdb publication page



Can two wrongs make a right? F508del-CFTR ion channel rescue by second-site mutations in its transmembrane domains.

The Journal Of Biological Chemistry
Prins, Stella S; Corradi, Valentina V; Sheppard, David N DN; Tieleman, D Peter DP; Vergani, Paola P
Publication Date: 2022-01-20

Variant appearance in text: CFTR: F508del
PubMed Link: 35065958
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Lived experiences of individuals with cystic fibrosis on CFTR-modulators.

Bmc Pulmonary Medicine
Page, Annelise A; Goldenberg, Aaron A; Matthews, Anne L AL
Publication Date: 2022-01-21

Variant appearance in text: CFTR: F508del
PubMed Link: 35062937
Variant Present in the following documents:
  • 12890_2022_Article_1825.pdf
View BVdb publication page



Lipid-driven CFTR clustering is impaired in CF and restored by corrector drugs.

Journal Of Cell Science
Abu-Arish, Asmahan A; Pandžić, Elvis E; Luo, Yishan Y; Sato, Yukiko Y; Turner, Mark J MJ; Wiseman, Paul W PW; Hanrahan, John W JW
Publication Date: 2022-01-21

Variant appearance in text: CFTR: F508del
PubMed Link: 35060604
Variant Present in the following documents:
  • joces-135-259002_review_history.pdf
  • joces-135-259002-s1.pdf
View BVdb publication page



Treatment of cystic fibrosis related bone disease.

Journal Of Clinical & Translational Endocrinology
Ullal, Jagdeesh J; Kutney, Katherine K; Williams, Kristen M KM; Weber, David R DR
Publication Date: 2022-03

Variant appearance in text: CFTR: F508del
PubMed Link: 35059303
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



The Relationship between Body Composition, Dietary Intake, Physical Activity, and Pulmonary Status in Adolescents and Adults with Cystic Fibrosis.

Nutrients
Scully, Kevin J KJ; Jay, Laura T LT; Freedman, Steven S; Sawicki, Gregory S GS; Uluer, Ahmet A; Finkelstein, Joel S JS; Putman, Melissa S MS
Publication Date: 2022-01-12

Variant appearance in text: CFTR: F508del
PubMed Link: 35057491
Variant Present in the following documents:
  • nutrients-14-00310.pdf
View BVdb publication page



Small Drugs, Huge Impact: The Extraordinary Impact of Antisense Oligonucleotides in Research and Drug Development.

Molecules (Basel, Switzerland)
Quemener, Anais M AM; Centomo, Maria Laura ML; Sax, Scott L SL; Panella, Riccardo R
Publication Date: 2022-01-15

Variant appearance in text: CFTR: F508del
PubMed Link: 35056851
Variant Present in the following documents:
  • molecules-27-00536.pdf
View BVdb publication page



Risk Factors for Pancreatic Cancer: Emerging Role of Viral Hepatitis.

Journal Of Personalized Medicine
Gheorghe, Gina G; Diaconu, Camelia Cristina CC; Ionescu, Vlad V; Constantinescu, Gabriel G; Bacalbasa, Nicolae N; Bungau, Simona S; Gaman, Mihnea-Alexandru MA; Stan-Ilie, Madalina M
Publication Date: 2022-01-10

Variant appearance in text: CFTR: F508del
PubMed Link: 35055398
Variant Present in the following documents:
  • jpm-12-00083.pdf
View BVdb publication page



Therapeutic CFTR Correction Normalizes Systemic and Lung-Specific S1P Level Alterations Associated with Heart Failure.

International Journal Of Molecular Sciences
Uhl, Franziska E FE; Vanherle, Lotte L; Matthes, Frank F; Meissner, Anja A
Publication Date: 2022-01-14

Variant appearance in text: CFTR: F508del
PubMed Link: 35055052
Variant Present in the following documents:
  • ijms-23-00866.pdf
View BVdb publication page



Endolysosomal Cation Channels and Lung Disease.

Cells
Spix, Barbara B; Jeridi, Aicha A; Ansari, Meshal M; Yildirim, Ali Önder AÖ; Schiller, Herbert B HB; Grimm, Christian C
Publication Date: 2022-01-17

Variant appearance in text: CFTR: F508del
PubMed Link: 35053420
Variant Present in the following documents:
  • cells-11-00304.pdf
View BVdb publication page



Malignancies in patients with cystic fibrosis: a case series.

Journal Of Medical Case Reports
Appelt, Dorothea D; Fuchs, Teresa T; Steinkamp, Gratiana G; Ellemunter, Helmut H
Publication Date: 2022-01-19

Variant appearance in text: CFTR: phe508del
PubMed Link: 35042562
Variant Present in the following documents:
  • 13256_2021_Article_3234.pdf
View BVdb publication page



Precision medicine in bronchiectasis.

Breathe (Sheffield, England)
Pembridge, Thomas T; Chalmers, James D JD
Publication Date: 2021-12

Variant appearance in text: CFTR: Phe508del
PubMed Link: 35035573
Variant Present in the following documents:
  • EDU-0119-2021.pdf
View BVdb publication page



Progress in precision medicine in cystic fibrosis: a focus on CFTR modulator therapy.

Breathe (Sheffield, England)
Tewkesbury, Daniel H DH; Robey, Rebecca C RC; Barry, Peter J PJ
Publication Date: 2021-12

Variant appearance in text: CFTR: Phe508del
PubMed Link: 35035569
Variant Present in the following documents:
  • EDU-0112-2021.pdf
View BVdb publication page



Challenging the paradigm: moving from umbrella labels to treatable traits in airway disease.

Breathe (Sheffield, England)
Bush, Andrew A; Pavord, Ian D ID
Publication Date: 2021-09

Variant appearance in text: CFTR: Phe508del
PubMed Link: 35035544
Variant Present in the following documents:
  • EDU-0053-2021.pdf
View BVdb publication page



An LC-MS/MS method for simultaneous analysis of the cystic fibrosis therapeutic drugs colistin, ivacaftor and ciprofloxacin.

Journal Of Pharmaceutical Analysis
Yuan, Huiya H; Yu, Shihui S; Chai, Guihong G; Liu, Junting J; Zhou, Qi Tony QT
Publication Date: 2021-12

Variant appearance in text: CFTR: Phe508del
PubMed Link: 35028178
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Open reading frame correction using splice-switching antisense oligonucleotides for the treatment of cystic fibrosis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Michaels, Wren E WE; Pena-Rasgado, Cecilia C; Kotaria, Rusudan R; Bridges, Robert J RJ; Hastings, Michelle L ML
Publication Date: 2022-01-18

Variant appearance in text: CFTR: F508del
PubMed Link: 35017302
Variant Present in the following documents:
  • pnas.202114886.pdf
  • pnas.2114886119.sapp.pdf
View BVdb publication page



Physiological predictors of cardiorespiratory fitness in children and adolescents with cystic fibrosis without ventilatory limitation.

Therapeutic Advances In Respiratory Disease
Burghard, Marcella M; Takken, Tim T; Nap-van der Vlist, Merel M MM; Nijhof, Sanne L SL; van der Ent, C Kors CK; Heijerman, Harry G M HGM; Hulzebos, H J Erik HJE
Publication Date: 2022

Variant appearance in text: CFTR: F508del
PubMed Link: 35012387
Variant Present in the following documents:
  • 10.1177_17534666211070143.pdf
View BVdb publication page



Rothia mucilaginosa is an anti-inflammatory bacterium in the respiratory tract of patients with chronic lung disease.

The European Respiratory Journal
Rigauts, Charlotte C; Aizawa, Juliana J; Taylor, Steven S; Rogers, Geraint B GB; Govaerts, Matthias M; Cos, Paul P; Ostyn, Lisa L; Sims, Sarah S; Vandeplassche, Eva E; Sze, Mozes M; Dondelinger, Yves Y; Vereecke, Lars L; Van Acker, Heleen H; Simpson, Jodie L JL; Burr, Lucy L; Willems, Anne A; Tunney, Michael M MM; Cigana, Cristina C; Bragonzi, Alessandra A; Coenye, Tom T; Crabbé, Aurélie A
Publication Date: 2021-09-29

Variant appearance in text: CFTR: F508del
PubMed Link: 34588194
Variant Present in the following documents:
  • ERJ-01293-2021.pdf
View BVdb publication page



Cystic fibrosis transmembrane conductance regulator (CFTR) modulators have differential effects on cystic fibrosis macrophage function.

Scientific Reports
Zhang, Shuzhong S; Shrestha, Chandra L CL; Kopp, Benjamin T BT
Publication Date: 2018-11-20

Variant appearance in text: CFTR: Phe508del
PubMed Link: 30459435
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification and Characterization of Novel CFTR Potentiators.

Frontiers In Pharmacology
Gees, Maarten M; Musch, Sara S; Van der Plas, Steven S; Wesse, Anne-Sophie AS; Vandevelde, Ann A; Verdonck, Katleen K; Mammoliti, Oscar O; Hwang, Tzyh-Chang TC; Sonck, Kathleen K; Stouten, Pieter P; Swensen, Andrew M AM; Jans, Mia M; Van der Schueren, Jan J; Nelles, Luc L; Andrews, Martin M; Conrath, Katja K
Publication Date: 2018

Variant appearance in text: CFTR: F508del
PubMed Link: 30416447
Variant Present in the following documents:
  • Main text
View BVdb publication page



In vitro Methods for the Development and Analysis of Human Primary Airway Epithelia.

Frontiers In Pharmacology
Gianotti, Ambra A; Delpiano, Livia L; Caci, Emanuela E
Publication Date: 2018

Variant appearance in text: CFTR: F508del
PubMed Link: 30416443
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sweat rate analysis of ivacaftor potentiation of CFTR in non-CF adults.

Scientific Reports
Kim, Jeeyeon J; Farahmand, Miesha M; Dunn, Colleen C; Milla, Carlos E CE; Horii, Rina I RI; Thomas, Ewart A C EAC; Moss, Richard B RB; Wine, Jeffrey J JJ
Publication Date: 2018-11-02

Variant appearance in text: CFTR: F508del
PubMed Link: 30389955
Variant Present in the following documents:
  • Main text
View BVdb publication page



Emerging microRNA Therapeutic Approaches for Cystic Fibrosis.

Frontiers In Pharmacology
Bardin, Pauline P; Sonneville, Florence F; Corvol, Harriet H; Tabary, Olivier O
Publication Date: 2018

Variant appearance in text: CFTR: F508del
PubMed Link: 30349480
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of a large cohort of cystic fibrosis patients with severe liver disease indicates lung function decline does not significantly differ from that of the general cystic fibrosis population.

Plos One
Polineni, Deepika D; Piccorelli, Annalisa V AV; Hannah, William B WB; Dalrymple, Sarah N SN; Pace, Rhonda G RG; Durie, Peter R PR; Ling, Simon C SC; Knowles, Michael R MR; Stonebraker, Jaclyn R JR
Publication Date: 2018

Variant appearance in text: CFTR: Phe508del
PubMed Link: 30307979
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular basis of cystic fibrosis: from bench to bedside.

Annals Of Translational Medicine
Dechecchi, Maria Cristina MC; Tamanini, Anna A; Cabrini, Giulio G
Publication Date: 2018-09

Variant appearance in text: CFTR: F508del
PubMed Link: 30306073
Variant Present in the following documents:
  • Main text
View BVdb publication page



Antiestrogen- and tamoxifen-induced effects on calcium-activated chloride currents in epithelial cells carrying the ∆F508-CFTR point mutation.

Respiratory Research
Imberti, Roberto R; Garavaglia, Maria Lisa ML; Verduci, Ivan I; Cannavale, Gaetano G; Balduzzi, Giorgio G; Papetti, Sara S; Mazzanti, Michele M
Publication Date: 2018-10-05

Variant appearance in text: CFTR: F508del
PubMed Link: 30290809
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cystic Fibrosis Mice Develop Spontaneous Chronic Bordetella Airway Infections.

Journal Of Infectious Pulmonary Diseases
Darrah, R R; Bonfield, T T; LiPuma, J J JJ; Litman, P P; Hodges, C A CA; Jacono, F F; Drumm, M M
Publication Date: 2017

Variant appearance in text: CFTR: F508del
PubMed Link: 30283824
Variant Present in the following documents:
  • Main text
View BVdb publication page



Specialized Pro-Resolving Lipid Mediators in Cystic Fibrosis.

International Journal Of Molecular Sciences
Philippe, Réginald R; Urbach, Valerie V
Publication Date: 2018-09-21

Variant appearance in text: CFTR: F508del
PubMed Link: 30241412
Variant Present in the following documents:
  • Main text
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Antibiotic multidrug resistance in the cystic fibrosis airway microbiome is associated with decreased diversity.

Heliyon
Hahn, Andrea A; Burrell, Aszia A; Fanous, Hani H; Chaney, Hollis H; Sami, Iman I; Perez, Geovanny F GF; Koumbourlis, Anastassios C AC; Freishtat, Robert J RJ; Crandall, Keith A KA
Publication Date: 2018-09

Variant appearance in text: CFTR: F508del
PubMed Link: 30238064
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Physiological and Pathophysiological Relevance of the Anion Transporter Slc26a9 in Multiple Organs.

Frontiers In Physiology
Liu, Xuemei X; Li, Taolang T; Tuo, Biguang B
Publication Date: 2018

Variant appearance in text: CFTR: F508del
PubMed Link: 30233393
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Prolonged co-treatment with HGF sustains epithelial integrity and improves pharmacological rescue of Phe508del-CFTR.

Scientific Reports
Matos, Ana M AM; Gomes-Duarte, Andreia A; Faria, Márcia M; Barros, Patrícia P; Jordan, Peter P; Amaral, Margarida D MD; Matos, Paulo P
Publication Date: 2018-08-29

Variant appearance in text: CFTR: Phe508del
PubMed Link: 30158635
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SLC26A9 Gene Is Associated With Lung Function Response to Ivacaftor in Patients With Cystic Fibrosis.

Frontiers In Pharmacology
Corvol, Harriet H; Mésinèle, Julie J; Douksieh, Isman-Hassan IH; Strug, Lisa J LJ; Boëlle, Pierre-Yves PY; Guillot, Loïc L
Publication Date: 2018

Variant appearance in text: CFTR: F508del
PubMed Link: 30140228
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Autosomal single-gene disorders involved in human infertility.

Saudi Journal Of Biological Sciences
Jedidi, Ines I; Ouchari, Mouna M; Yin, Qinan Q
Publication Date: 2018-07

Variant appearance in text: CFTR: F508del
PubMed Link: 30108436
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A novel triple combination of pharmacological chaperones improves F508del-CFTR correction.

Scientific Reports
Carlile, Graeme W GW; Yang, Qi Q; Matthes, Elizabeth E; Liao, Jie J; Radinovic, Stevo S; Miyamoto, Carol C; Robert, Renaud R; Hanrahan, John W JW; Thomas, David Y DY
Publication Date: 2018-07-30

Variant appearance in text: CFTR: F508del
PubMed Link: 30061653
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Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.

Jci Insight
Han, Sangwoo T ST; Rab, Andras A; Pellicore, Matthew J MJ; Davis, Emily F EF; McCague, Allison F AF; Evans, Taylor A TA; Joynt, Anya T AT; Lu, Zhongzhou Z; Cai, Zhiwei Z; Raraigh, Karen S KS; Hong, Jeong S JS; Sheppard, David N DN; Sorscher, Eric J EJ; Cutting, Garry R GR
Publication Date: 2018-07-26

Variant appearance in text: CFTR: Phe508del
PubMed Link: 30046002
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Molecular Mechanism of Action of Trimethylangelicin Derivatives as CFTR Modulators.

Frontiers In Pharmacology
Laselva, Onofrio O; Marzaro, Giovanni G; Vaccarin, Christian C; Lampronti, Ilaria I; Tamanini, Anna A; Lippi, Giuseppe G; Gambari, Roberto R; Cabrini, Giulio G; Bear, Christine E CE; Chilin, Adriana A; Dechecchi, Maria C MC
Publication Date: 2018

Variant appearance in text: CFTR: F508del
PubMed Link: 30022950
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SLC6A14, an amino acid transporter, modifies the primary CF defect in fluid secretion.

Elife
Ahmadi, Saumel S; Xia, Sunny S; Wu, Yu-Sheng YS; Di Paola, Michelle M; Kissoon, Randolph R; Luk, Catherine C; Lin, Fan F; Du, Kai K; Rommens, Johanna J; Bear, Christine E CE
Publication Date: 2018-07-13

Variant appearance in text: CFTR: F508del
PubMed Link: 30004386
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V232D mutation in patients with cystic fibrosis: Not so rare, not so mild.

Medicine
Fernández-Lorenzo, Ana E AE; Moreno-Álvarez, Ana A; Colon-Mejeras, Cristóbal C; Barros-Angueira, Francisco F; Solar-Boga, Alfonso A; Sirvent-Gómez, Josep J; Couce, María L ML; Leis, Rosaura R
Publication Date: 2018-07

Variant appearance in text: CFTR: F508del
PubMed Link: 29995784
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Creating longitudinal datasets and cleaning existing data identifiers in a cystic fibrosis registry using a novel Bayesian probabilistic approach from astronomy.

Plos One
Hurley, Peter Donald PD; Oliver, Seb S; Mehta, Anil A
Publication Date: 2018

Variant appearance in text: CFTR: F508del
PubMed Link: 29985939
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CFTR Deletion Confers Mitochondrial Dysfunction and Disrupts Lipid Homeostasis in Intestinal Epithelial Cells.

Nutrients
Kleme, Marie L ML; Sané, Alain A; Garofalo, Carole C; Seidman, Ernest E; Brochiero, Emmanuelle E; Berthiaume, Yves Y; Levy, Emile E
Publication Date: 2018-06-27

Variant appearance in text: CFTR: F508del
PubMed Link: 29954133
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Omalizumab in allergic bronchopulmonary aspergillosis in patients with cystic fibrosis.

Journal Of Asthma And Allergy
Ashkenazi, Moshe M; Sity, Saray S; Sarouk, Ifat I; Bar Aluma, Bat El BE; Dagan, Adi A; Bezalel, Yael Y; Bentur, Lea L; De Boeck, Kris K; Efrati, Ori O
Publication Date: 2018

Variant appearance in text: CFTR: f508del
PubMed Link: 29950869
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A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies.

Plos One
McHugh, Daniel R DR; Steele, Miarasa S MS; Valerio, Dana M DM; Miron, Alexander A; Mann, Rachel J RJ; LePage, David F DF; Conlon, Ronald A RA; Cotton, Calvin U CU; Drumm, Mitchell L ML; Hodges, Craig A CA
Publication Date: 2018

Variant appearance in text: CFTR: F508del
PubMed Link: 29924856
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AC6 is the major adenylate cyclase forming a diarrheagenic protein complex with cystic fibrosis transmembrane conductance regulator in cholera.

The Journal Of Biological Chemistry
Thomas, Andrew A; Ramananda, Yashaswini Y; Mun, KyuShik K; Naren, Anjaparavanda P AP; Arora, Kavisha K
Publication Date: 2018-08-17

Variant appearance in text: CFTR: F508del
PubMed Link: 29903911
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Fluorogen-activating proteins: beyond classical fluorescent proteins.

Acta Pharmaceutica Sinica. B
Xu, Shengnan S; Hu, Hai-Yu HY
Publication Date: 2018-05

Variant appearance in text: CFTR: F508del
PubMed Link: 29881673
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Long-term dietary (n-3) polyunsaturated fatty acids show benefits to the lungs of Cftr F508del mice.

Plos One
Portal, Céline C; Gouyer, Valérie V; Léonard, Renaud R; Husson, Marie-Odile MO; Gottrand, Frédéric F; Desseyn, Jean-Luc JL
Publication Date: 2018

Variant appearance in text: CFTR: F508del
PubMed Link: 29856782
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Cigarette Smoke-Induced Acquired Dysfunction of Cystic Fibrosis Transmembrane Conductance Regulator in the Pathogenesis of Chronic Obstructive Pulmonary Disease.

Oxidative Medicine And Cellular Longevity
Shi, Juan J; Li, Hui H; Yuan, Chao C; Luo, Meihui M; Wei, Jun J; Liu, Xiaoming X
Publication Date: 2018

Variant appearance in text: CFTR: F508del
PubMed Link: 29849907
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Data from the US and UK cystic fibrosis registries support disease modification by CFTR modulation with ivacaftor.

Thorax
Bessonova, Leona L; Volkova, Nataliya N; Higgins, Mark M; Bengtsson, Leif L; Tian, Simon S; Simard, Christopher C; Konstan, Michael W MW; Sawicki, Gregory S GS; Sewall, Ase A; Nyangoma, Stephen S; Elbert, Alexander A; Marshall, Bruce C BC; Bilton, Diana D
Publication Date: 2018-08

Variant appearance in text: CFTR: F508del
PubMed Link: 29748252
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Innovative Therapeutic Strategies for Cystic Fibrosis: Moving Forward to CRISPR Technique.

Frontiers In Pharmacology
Marangi, Michele M; Pistritto, Giuseppa G
Publication Date: 2018

Variant appearance in text: CFTR: F508del
PubMed Link: 29731717
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Assembly and Functional Analysis of an S/MAR Based Episome with the Cystic Fibrosis Transmembrane Conductance Regulator Gene.

International Journal Of Molecular Sciences
De Rocco, Davide D; Pompili, Barbara B; Castellani, Stefano S; Morini, Elena E; Cavinato, Luca L; Cimino, Giuseppe G; Mariggiò, Maria A MA; Guarnieri, Simone S; Conese, Massimo M; Del Porto, Paola P; Ascenzioni, Fiorentina F
Publication Date: 2018-04-17

Variant appearance in text: CFTR: Phe508del
PubMed Link: 29673202
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Aspergillus-induced superoxide production by cystic fibrosis phagocytes is associated with disease severity.

Erj Open Research
Brunel, Shan F SF; Willment, Janet A JA; Brown, Gordon D GD; Devereux, Graham G; Warris, Adilia A
Publication Date: 2018-04

Variant appearance in text: CFTR: Phe508del
PubMed Link: 29651422
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Airway disease phenotypes in animal models of cystic fibrosis.

Respiratory Research
McCarron, Alexandra A; Donnelley, Martin M; Parsons, David D
Publication Date: 2018-04-02

Variant appearance in text: CFTR: Phe508del
PubMed Link: 29609604
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Improving imputation in disease-relevant regions: lessons from cystic fibrosis.

Npj Genomic Medicine
Panjwani, Naim N; Xiao, Bowei B; Xu, Lizhen L; Gong, Jiafen J; Keenan, Katherine K; Lin, Fan F; He, Gengming G; Baskurt, Zeynep Z; Kim, Sangook S; Zhang, Lin L; Esmaeili, Mohsen M; Blackman, Scott S; Scherer, Stephen W SW; Corvol, Harriet H; Drumm, Mitchell M; Knowles, Michael M; Cutting, Garry G; Rommens, Johanna M JM; Sun, Lei L; Strug, Lisa J LJ
Publication Date: 2018

Variant appearance in text: CFTR: Phe508del
PubMed Link: 29581887
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The EGFR-ADAM17 Axis in Chronic Obstructive Pulmonary Disease and Cystic Fibrosis Lung Pathology.

Mediators Of Inflammation
Stolarczyk, Marta M; Scholte, Bob J BJ
Publication Date: 2018

Variant appearance in text: CFTR: F508del
PubMed Link: 29540993
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Gap Junctions Are Involved in the Rescue of CFTR-Dependent Chloride Efflux by Amniotic Mesenchymal Stem Cells in Coculture with Cystic Fibrosis CFBE41o- Cells.

Stem Cells International
Carbone, Annalucia A; Zefferino, Roberto R; Beccia, Elisa E; Casavola, Valeria V; Castellani, Stefano S; Di Gioia, Sante S; Giannone, Valentina V; Seia, Manuela M; Angiolillo, Antonella A; Colombo, Carla C; Favia, Maria M; Conese, Massimo M
Publication Date: 2018

Variant appearance in text: CFTR: F508del
PubMed Link: 29531530
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Fluctuations in airway bacterial communities associated with clinical states and disease stages in cystic fibrosis.

Plos One
Carmody, Lisa A LA; Caverly, Lindsay J LJ; Foster, Bridget K BK; Rogers, Mary A M MAM; Kalikin, Linda M LM; Simon, Richard H RH; VanDevanter, Donald R DR; LiPuma, John J JJ
Publication Date: 2018

Variant appearance in text: CFTR: F508del
PubMed Link: 29522532
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Cystic Fibrosis-Related Diabetes.

Frontiers In Endocrinology
Kayani, Kayani K; Mohammed, Raihan R; Mohiaddin, Hasan H
Publication Date: 2018

Variant appearance in text: CFTR: Phe508del
PubMed Link: 29515516
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Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.

Erj Open Research
Pranke, Iwona I; Bidou, Laure L; Martin, Natacha N; Blanchet, Sandra S; Hatton, Aurélie A; Karri, Sabrina S; Cornu, David D; Costes, Bruno B; Chevalier, Benoit B; Tondelier, Danielle D; Girodon, Emmanuelle E; Coupet, Matthieu M; Edelman, Aleksander A; Fanen, Pascale P; Namy, Olivier O; Sermet-Gaudelus, Isabelle I; Hinzpeter, Alexandre A
Publication Date: 2018-01

Variant appearance in text: CFTR: Phe508del
PubMed Link: 29497617
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Evaluation of autophagy inducers in epithelial cells carrying the ΔF508 mutation of the cystic fibrosis transmembrane conductance regulator CFTR.

Cell Death & Disease
Zhang, Shaoyi S; Stoll, Gautier G; Pedro, José Manuel Bravo San JMBS; Sica, Valentina V; Sauvat, Allan A; Obrist, Florine F; Kepp, Oliver O; Li, Yousheng Y; Maiuri, Luigi L; Zamzami, Naoufal N; Kroemer, Guido G
Publication Date: 2018-02-07

Variant appearance in text: CFTR: F508del
PubMed Link: 29415993
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Recent Progress in CFTR Interactome Mapping and Its Importance for Cystic Fibrosis.

Frontiers In Pharmacology
Lim, Sang Hyun SH; Legere, Elizabeth-Ann EA; Snider, Jamie J; Stagljar, Igor I
Publication Date: 2017

Variant appearance in text: CFTR: F508del
PubMed Link: 29403380
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Initial acquisition and succession of the cystic fibrosis lung microbiome is associated with disease progression in infants and preschool children.

Plos Pathogens
Muhlebach, Marianne S MS; Zorn, Bryan T BT; Esther, Charles R CR; Hatch, Joseph E JE; Murray, Conor P CP; Turkovic, Lidija L; Ranganathan, Sarath C SC; Boucher, Richard C RC; Stick, Stephen M SM; Wolfgang, Matthew C MC
Publication Date: 2018-01

Variant appearance in text: CFTR: F508del
PubMed Link: 29346420
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Revisiting sweat chloride test results based on recent guidelines for diagnosis of cystic fibrosis.

Practical Laboratory Medicine
Pagaduan, Jayson V JV; Ali, Mahesheema M; Dowlin, Michael M; Suo, Liye L; Ward, Tabitha T; Ruiz, Fadel F; Devaraj, Sridevi S
Publication Date: 2018-03

Variant appearance in text: CFTR: F508del
PubMed Link: 29326970
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Peripheral quantitative computed tomography detects differences at the radius in prepubertal children with cystic fibrosis compared to healthy controls.

Plos One
O'Brien, Catherine E CE; Com, Gulnur G; Fowlkes, John J; Tang, Xinyu X; James, Laura P LP
Publication Date: 2018

Variant appearance in text: CFTR: Phe508del
PubMed Link: 29324908
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Up-to-date and projected estimates of survival for people with cystic fibrosis using baseline characteristics: A longitudinal study using UK patient registry data.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Keogh, Ruth H RH; Szczesniak, Rhonda R; Taylor-Robinson, David D; Bilton, Diana D
Publication Date: 2018-03

Variant appearance in text: CFTR: F508del
PubMed Link: 29311001
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Conditionally reprogrammed primary airway epithelial cells maintain morphology, lineage and disease specific functional characteristics.

Scientific Reports
Martinovich, Kelly M KM; Iosifidis, Thomas T; Buckley, Alysia G AG; Looi, Kevin K; Ling, Kak-Ming KM; Sutanto, Erika N EN; Kicic-Starcevich, Elizabeth E; Garratt, Luke W LW; Shaw, Nicole C NC; Montgomery, Samuel S; Lannigan, Francis J FJ; Knight, Darryl A DA; Kicic, Anthony A; Stick, Stephen M SM
Publication Date: 2017-12-21

Variant appearance in text: CFTR: Phe508del
PubMed Link: 29269735
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SLC6A14 Is a Genetic Modifier of Cystic Fibrosis That Regulates Pseudomonas aeruginosa Attachment to Human Bronchial Epithelial Cells.

Mbio
Di Paola, Michelle M; Park, Amber J AJ; Ahmadi, Saumel S; Roach, Elyse J EJ; Wu, Yu-Sheng YS; Struder-Kypke, Michaela M; Lam, Joseph S JS; Bear, Christine E CE; Khursigara, Cezar M CM
Publication Date: 2017-12-19

Variant appearance in text: CFTR: F508del
PubMed Link: 29259090
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Detection of Cystic Fibrosis Serological Biomarkers Using a T7 Phage Display Library.

Scientific Reports
Talwar, Harvinder H; Hanoudi, Samer Najeeb SN; Geamanu, Andreea A; Kissner, Dana D; Draghici, Sorin S; Samavati, Lobelia L
Publication Date: 2017-12-18

Variant appearance in text: CFTR: F508del
PubMed Link: 29255267
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Anti-Mullerian Hormone-to-Testosterone Ratio is Predictive of Positive Sperm Retrieval in Men with Idiopathic Non-Obstructive Azoospermia.

Scientific Reports
Alfano, Massimo M; Ventimiglia, Eugenio E; Locatelli, Irene I; Capogrosso, Paolo P; Cazzaniga, Walter W; Pederzoli, Filippo F; Frego, Nicola N; Matloob, Rayan R; Saccà, Antonino A; Pagliardini, Luca L; Viganò, Paola P; Zerbi, Pietro P; Nebuloni, Manuela M; Pontillo, Marina M; Montorsi, Francesco F; Salonia, Andrea A
Publication Date: 2017-12-15

Variant appearance in text: CFTR: F508del
PubMed Link: 29247212
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Relation of Ultrasound Findings and Abdominal Symptoms obtained with the CFAbd-Score in Cystic Fibrosis Patients.

Scientific Reports
Tabori, Harold H; Jaudszus, Anke A; Arnold, Christin C; Mentzel, Hans-Joachim HJ; Lorenz, Michael M; Michl, Ruth K RK; Lehmann, Thomas T; Renz, Diane M DM; Mainz, Jochen G JG
Publication Date: 2017-12-12

Variant appearance in text: CFTR: F508del
PubMed Link: 29234058
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Is bronchoscopy an obsolete tool in cystic fibrosis? The role of bronchoscopy in cystic fibrosis and its clinical use.

Journal Of Thoracic Disease
Paul, Lisa L
Publication Date: 2017-09

Variant appearance in text: CFTR: F508del
PubMed Link: 29214071
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Reduced bone length, growth plate thickness, bone content, and IGF-I as a model for poor growth in the CFTR-deficient rat.

Plos One
Stalvey, Michael S MS; Havasi, Viktoria V; Tuggle, Katherine L KL; Wang, Dezhi D; Birket, Susan S; Rowe, Steve M SM; Sorscher, Eric J EJ
Publication Date: 2017

Variant appearance in text: CFTR: F508del
PubMed Link: 29190650
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