Variant ID: 7-117199644-ATCT-A

NM_000492.3(CFTR):c.1521_1523del;(p.F508del)

This variant was identified in 1828 publications

View GRCh38 version.




Publications:


Treatment With LAU-7b Complements CFTR Modulator Therapy by Improving Lung Physiology and Normalizing Lipid Imbalance Associated With CF Lung Disease.

Frontiers In Pharmacology
Centorame, Amanda A; Dumut, Daciana Catalina DC; Youssef, Mina M; Ondra, Martin M; Kianicka, Irenej I; Shah, Juhi J; Paun, Radu Alexandru RA; Ozdian, Tomas T; Hanrahan, John W JW; Gusev, Ekaterina E; Petrof, Basil B; Hajduch, Marian M; Pislariu, Radu R; De Sanctis, Juan Bautista JB; Radzioch, Danuta D
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35668939
Variant Present in the following documents:
View BVdb publication page



The Role of Plasma Membrane Sodium/Hydrogen Exchangers in Gastrointestinal Functions: Proliferation and Differentiation, Fluid/Electrolyte Transport and Barrier Integrity.

Frontiers In Physiology
Nikolovska, Katerina K; Seidler, Ursula E UE; Stock, Christian C
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35665228
Variant Present in the following documents:
View BVdb publication page



Efficient suppression of endogenous CFTR nonsense mutations using anticodon-engineered transfer RNAs.

Molecular Therapy. Nucleic Acids
Ko, Wooree W; Porter, Joseph J JJ; Sipple, Matthew T MT; Edwards, Katherine M KM; Lueck, John D JD
Publication Date: 2022-06-14

Variant appearance in text: N/A
PubMed Link: 35664697
Variant Present in the following documents:
View BVdb publication page



Liver disease in cystic fibrosis patients in a tertiary care center in Saudi Arabia.

International Journal Of Pediatrics & Adolescent Medicine
Banjar, Hanaa H; AbdulAziz, Najlaa N; Khader, Jumana J; Ghomraoui, Firas F; Alansari, AbdulAziz A; Al-Hoshan, Abdulaziz A; AlKaf, Sara S; Aldakheel, Wajeeh W
Publication Date: 2022-06

Variant appearance in text: CFTR: 1521_1523delCTT; Phe508del; rs113993960
PubMed Link: 35663788
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



First report on the prevalence of bacteria in cystic fibrosis patients (CF) in a tertiary care center in Saudi Arabia.

International Journal Of Pediatrics & Adolescent Medicine
Banjar, Hanaa H; Ghawi, Afrah A; AlMogarri, Ibrahim I; Alhaider, Sami S; Alomran, Hanan H; Hejazi, Abdullah A; Alfadhel, Abdulrahaman A; Khanjar, Sharouk S; AlAshgar, Mais M; Alghazzi, Alaa A; Abanemai, Lama L; AlFattani, Areej A
Publication Date: 2022-06

Variant appearance in text: N/A
PubMed Link: 35663786
Variant Present in the following documents:
View BVdb publication page



Translational Research in Cystic Fibrosis: From Bench to Beside.

Frontiers In Pediatrics
Garcia, Laura de Castro E LCE; Petry, Lucas Montiel LM; Germani, Pedro Augusto Van Der Sand PAVS; Xavier, Luiza Fernandes LF; de Barros, Paula Barros PB; Meneses, Amanda da Silva ADS; Prestes, Laura Menestrino LM; Bittencourt, Luana Braga LB; Pieta, Marina Puerari MP; Friedrich, Frederico F; Pinto, Leonardo Araújo LA
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35652053
Variant Present in the following documents:
View BVdb publication page



Association Study Between Polymorphic Loci in Cholesterol Metabolism Pathway and Gallstone in the Tibetan Population.

Frontiers In Genetics
Ma, Lifeng L; Chen, Hui H; Zhang, Zhiying Z; Liu, Lijun L; Zhao, Yiduo Y; Li, Yansong Y; Zhao, Zhipeng Z; Chen, Haitao H; Kang, Longli L
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35651949
Variant Present in the following documents:
View BVdb publication page



Accounting for population structure in genetic studies of cystic fibrosis.

Hgg Advances
Kingston, Hanley H; Stilp, Adrienne M AM; Gordon, William W; Broome, Jai J; Gogarten, Stephanie M SM; Ling, Hua H; Barnard, John J; Dugan-Perez, Shannon S; Ellinor, Patrick T PT; Gabriel, Stacey S; Germer, Soren S; Gibbs, Richard A RA; Gupta, Namrata N; Rice, Kenneth K; Smith, Albert V AV; Zody, Michael C MC; , ; , ; Blackman, Scott M SM; Cutting, Garry G; Knowles, Michael R MR; Zhou, Yi-Hui YH; Rosenfeld, Margaret M; Gibson, Ronald L RL; Bamshad, Michael M; Fohner, Alison A; Blue, Elizabeth E EE
Publication Date: 2022-07-14

Variant appearance in text: CFTR: 1521_1523delCTT; F508del
PubMed Link: 35647563
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
  • mmc2.pdf
View BVdb publication page



The prevalence of common CFTR gene mutations and polymorphisms in infertile Iranian men with very severe oligozoospermia.

Journal Of Medicine And Life
Jafari, Leyla L; Safinejad, Kyumars K; Nasiri, Mahboobeh M; Heidari, Mansour M; Houshmand, Massoud M
Publication Date: 2022-04

Variant appearance in text: CFTR: 1521_1523delCTT; F508del
PubMed Link: 35646184
Variant Present in the following documents:
  • Main text
  • JMedLife-15-547.pdf
View BVdb publication page



High-risk twin pregnancy: case report of an adolescent patient with cystic fibrosis and systemic lupus erythematosus.

Journal Of Medical Case Reports
Sanseverino, Paula Baptista PB; Hoffmann, Anneliese A; Machado, Sandra S; Farias, Mariana M; Michels, Marcus Silva MS; Sanseverino, Maria Teresa Vieira MTV; Marostica, Paulo José Cauduro PJC
Publication Date: 2022-05-31

Variant appearance in text: N/A
PubMed Link: 35641986
Variant Present in the following documents:
View BVdb publication page



Prevalence and Determinants of Wheezing and Bronchodilatation in Children With Cystic Fibrosis: A Retrospective Cohort Study.

Frontiers In Pediatrics
Galodé, Francois F; Ladipo, O O; Andrieux, A A; Feghali, H H; Bui, S S; Fayon, Michael M
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35633979
Variant Present in the following documents:
View BVdb publication page



Changes in Microbiome Dominance Are Associated With Declining Lung Function and Fluctuating Inflammation in People With Cystic Fibrosis.

Frontiers In Microbiology
Frey, Dario L DL; Bridson, Calum C; Dittrich, Susanne S; Graeber, Simon Y SY; Stahl, Mirjam M; Wege, Sabine S; Herth, Felix F; Sommerburg, Olaf O; Schultz, Carsten C; Dalpke, Alexander A; Mall, Marcus A MA; Boutin, Sébastien S
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35633718
Variant Present in the following documents:
View BVdb publication page



Elexacaftor-Tezacaftor-Ivacaftor as a Final Frontier in the Treatment of Cystic Fibrosis: Definition of the Clinical and Microbiological Implications in a Case-Control Study.

Pharmaceuticals (Basel, Switzerland)
Migliorisi, Giuseppe G; Collura, Mirella M; Ficili, Francesca F; Pensabene, Tiziana T; Bongiorno, Dafne D; Collura, Antonina A; Di Bernardo, Francesca F; Stefani, Stefania S
Publication Date: 2022-05-14

Variant appearance in text: N/A
PubMed Link: 35631432
Variant Present in the following documents:
View BVdb publication page



Human Amniotic Mesenchymal Stem Cells and Fibroblasts Accelerate Wound Repair of Cystic Fibrosis Epithelium.

Life (Basel, Switzerland)
Beccia, Elisa E; Daniello, Valeria V; Laselva, Onofrio O; Leccese, Giorgia G; Mangiacotti, Michele M; Di Gioia, Sante S; La Bella, Gianfranco G; Guerra, Lorenzo L; Matteo, Maria M; Angiolillo, Antonella A; Conese, Massimo M
Publication Date: 2022-05-19

Variant appearance in text: N/A
PubMed Link: 35629422
Variant Present in the following documents:
View BVdb publication page



Evaluating the Effect of Kaftrio on Perspectives of Health and Wellbeing in Individuals with Cystic Fibrosis.

International Journal Of Environmental Research And Public Health
Aspinall, Sean A SA; Mackintosh, Kelly A KA; Hill, Denise M DM; Cope, Bethany B; McNarry, Melitta A MA
Publication Date: 2022-05-17

Variant appearance in text: N/A
PubMed Link: 35627651
Variant Present in the following documents:
View BVdb publication page



Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.

Genes
Priolo, Manuela M; Mancini, Cecilia C; Pizzi, Simone S; Chiriatti, Luigi L; Radio, Francesca Clementina FC; Cordeddu, Viviana V; Pintomalli, Letizia L; Mammì, Corrado C; Dallapiccola, Bruno B; Tartaglia, Marco M
Publication Date: 2022-05-16

Variant appearance in text: CFTR: 1521_1523delCTT; rs113993960
PubMed Link: 35627274
Variant Present in the following documents:
  • Main text
  • genes-13-00889.pdf
View BVdb publication page



Gene Polymorphism of Biotransformation Enzymes and Ciprofloxacin Pharmacokinetics in Pediatric Patients with Cystic Fibrosis.

Biomedicines
Zyryanov, Sergey K SK; Ushkalova, Elena A EA; Kondratyeva, Elena I EI; Butranova, Olga I OI; Kondakova, Yulia A YA
Publication Date: 2022-05-02

Variant appearance in text: N/A
PubMed Link: 35625789
Variant Present in the following documents:
View BVdb publication page



The Impact of Pancreatic Exocrine Diseases on the β-Cell and Glucose Metabolism-A Review with Currently Available Evidence.

Biomolecules
Ciochina, Marina M; Balaban, Daniel Vasile DV; Manucu, George G; Jinga, Mariana M; Gheorghe, Cristian C
Publication Date: 2022-04-21

Variant appearance in text: N/A
PubMed Link: 35625546
Variant Present in the following documents:
View BVdb publication page



Links between Disease Severity, Bacterial Infections and Oxidative Stress in Cystic Fibrosis.

Antioxidants (Basel, Switzerland)
Galiniak, Sabina S; Mołoń, Mateusz M; Rachel, Marta M
Publication Date: 2022-04-29

Variant appearance in text: N/A
PubMed Link: 35624751
Variant Present in the following documents:
View BVdb publication page



Gene-specific nonsense-mediated mRNA decay targeting for cystic fibrosis therapy.

Nature Communications
Kim, Young Jin YJ; Nomakuchi, Tomoki T; Papaleonidopoulou, Foteini F; Yang, Lucia L; Zhang, Qian Q; Krainer, Adrian R AR
Publication Date: 2022-05-27

Variant appearance in text: N/A
PubMed Link: 35624092
Variant Present in the following documents:
View BVdb publication page



New drugs in cystic fibrosis: what has changed in the last decade?

Therapeutic Advances In Chronic Disease
Roda, Juliana J; Pinto-Silva, Catarina C; Silva, Iris A I IAI; Maia, Carla C; Almeida, Susana S; Ferreira, Ricardo R; Oliveira, Guiomar G
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35620188
Variant Present in the following documents:
View BVdb publication page



Human organoids in basic research and clinical applications.

Signal Transduction And Targeted Therapy
Tang, Xiao-Yan XY; Wu, Shanshan S; Wang, Da D; Chu, Chu C; Hong, Yuan Y; Tao, Mengdan M; Hu, Hao H; Xu, Min M; Guo, Xing X; Liu, Yan Y
Publication Date: 2022-05-24

Variant appearance in text: N/A
PubMed Link: 35610212
Variant Present in the following documents:
View BVdb publication page



Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.

Hgg Advances
French, Courtney E CE; Dolling, Helen H; Mégy, Karyn K; Sanchis-Juan, Alba A; Kumar, Ajay A; Delon, Isabelle I; Wakeling, Matthew M; Mallin, Lucy L; Agrawal, Shruti S; Austin, Topun T; Walston, Florence F; Park, Soo-Mi SM; Parker, Alasdair A; Piyasena, Chinthika C; Bradbury, Kimberley K; , ; Ellard, Sian S; Rowitch, David H DH; Raymond, F Lucy FL
Publication Date: 2022-07-14

Variant appearance in text: N/A
PubMed Link: 35586607
Variant Present in the following documents:
View BVdb publication page



Muc5b Contributes to Mucus Abnormality in Rat Models of Cystic Fibrosis.

Frontiers In Physiology
Keith, Johnathan D JD; Henderson, Alexander G AG; Fernandez-Petty, Courtney M CM; Davis, Joy M JM; Oden, Ashley M AM; Birket, Susan E SE
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35574458
Variant Present in the following documents:
View BVdb publication page



The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.

International Journal Of Pediatrics & Adolescent Medicine
Banjar, Hanaa H; Qeretli, Raef R; Ramadan, Ali A; Al-Ibraheem, Abdullah A; Bnatig, Fahad F
Publication Date: 2022-03

Variant appearance in text: CFTR: 1521_1523delCTT; F508del; rs113993960
PubMed Link: 35573065
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Dual Blockade of Misfolded Alpha-Sarcoglycan Degradation by Bortezomib and Givinostat Combination.

Frontiers In Pharmacology
Hoch, Lucile L; Bourg, Nathalie N; Degrugillier, Fanny F; Bruge, Céline C; Benabides, Manon M; Pellier, Emilie E; Tournois, Johana J; Mahé, Gurvan G; Maignan, Nicolas N; Dawe, Jack J; Georges, Maxime M; Papazian, David D; Subramanian, Nik N; Simon, Stéphanie S; Fanen, Pascale P; Delevoye, Cédric C; Richard, Isabelle I; Nissan, Xavier X
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35571097
Variant Present in the following documents:
View BVdb publication page



A Compositional Analysis of Physical Activity, Sedentary Time, and Sleep and Associated Health Outcomes in Children and Adults with Cystic Fibrosis.

International Journal Of Environmental Research And Public Health
Bianchim, Mayara S MS; McNarry, Melitta A MA; Holland, Anne A; Cox, Narelle S NS; Dreger, Julianna J; Barker, Alan R AR; Williams, Craig A CA; Denford, Sarah S; Mackintosh, Kelly A KA
Publication Date: 2022-04-23

Variant appearance in text: CFTR: 1521_1523delCTT; Phe508del
PubMed Link: 35564550
Variant Present in the following documents:
  • ijerph-19-05155.pdf
View BVdb publication page



Surface Hydration Protects Cystic Fibrosis Airways from Infection by Restoring Junctional Networks.

Cells
Simonin, Juliette L JL; Luscher, Alexandre A; Losa, Davide D; Badaoui, Mehdi M; van Delden, Christian C; Köhler, Thilo T; Chanson, Marc M
Publication Date: 2022-05-09

Variant appearance in text: N/A
PubMed Link: 35563895
Variant Present in the following documents:
View BVdb publication page



Telemedicine of patients with cystic fibrosis during the COVID-19 pandemic.

Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo
Costa, Rafaella Lima Ferreira RLF; Costa, Rebeca Ferreira RF; Gonçalves, Christine Pereira CP; Cohen, Renata Wrobel Folescu RWF; Santana, Nelbe Nesi NN
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35544907
Variant Present in the following documents:
View BVdb publication page



Short-Term Effects of Elexacaftor/Tezacaftor/Ivacaftor Combination on Glucose Tolerance in Young People With Cystic Fibrosis-An Observational Pilot Study.

Frontiers In Pediatrics
Korten, Insa I; Kieninger, Elisabeth E; Krueger, Linn L; Bullo, Marina M; Flück, Christa E CE; Latzin, Philipp P; Casaulta, Carmen C; Boettcher, Claudia C
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35529332
Variant Present in the following documents:
View BVdb publication page



The impact of FDA and EMA regulatory decision-making process on the access to CFTR modulators for the treatment of cystic fibrosis.

Orphanet Journal Of Rare Diseases
Costa, Enrico E; Girotti, Silvia S; Pauro, Francesca F; Leufkens, Hubert G M HGM; Cipolli, Marco M
Publication Date: 2022-05-07

Variant appearance in text: N/A
PubMed Link: 35525974
Variant Present in the following documents:
View BVdb publication page



The effect of TGF-β1 polymorphisms on pulmonary disease progression in patients with cystic fibrosis.

Bmc Pulmonary Medicine
Trojan, T T; Alejandre Alcazar, Miguel A MA; Fink, G G; Thomassen, J C JC; Maessenhausen, M V MV; Rietschel, E E; Schneider, P M PM; van Koningsbruggen-Rietschel, S S
Publication Date: 2022-05-07

Variant appearance in text: N/A
PubMed Link: 35525938
Variant Present in the following documents:
View BVdb publication page



Blood mRNA biomarkers distinguish variable systemic and sputum inflammation at treatment initiation of inhaled antibiotics in cystic fibrosis: A prospective non-randomized trial.

Plos One
Caceres, Silvia M SM; Sanders, Linda A LA; Rysavy, Noel M NM; Poch, Katie R KR; Jones, Caroline R CR; Pickard, Kyle K; Fingerlin, Tasha E TE; Marcus, Roland A RA; Malcolm, Kenneth C KC; Taylor-Cousar, Jennifer L JL; Nichols, David P DP; Nick, Jerry A JA; Strand, Matthew M; Saavedra, Milene T MT
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35511761
Variant Present in the following documents:
View BVdb publication page



Cystic fibrosis and alpha-1 antitrypsin deficiency: case report and review of literature.

Bmc Pediatrics
Jaspers, Evi E; Van Dijck, Ine I; Hoffman, Ilse I; Knops, Noël N; Stéphenne, Xavier X; Witters, Peter P; Proesmans, Marijke M
Publication Date: 2022-05-03

Variant appearance in text: N/A
PubMed Link: 35505316
Variant Present in the following documents:
View BVdb publication page



Exploring YAP1-centered networks linking dysfunctional CFTR to epithelial-mesenchymal transition.

Life Science Alliance
Quaresma, Margarida C MC; Botelho, Hugo M HM; Pankonien, Ines I; Rodrigues, Cláudia S CS; Pinto, Madalena C MC; Costa, Pau R PR; Duarte, Aires A; Amaral, Margarida D MD
Publication Date: 2022-09

Variant appearance in text: N/A
PubMed Link: 35500936
Variant Present in the following documents:
View BVdb publication page



Cumulative Incidence and Risk Factors for Severe COVID-19 in French People with Cystic Fibrosis.

Clinical Infectious Diseases : An Official Publication Of The Infectious Diseases Society Of America
Corvol, Harriet H; de Miranda, Sandra S; Dehillotte, Clémence C; Lemonnier, Lydie L; Chiron, Raphael R; Danner-Boucher, Isabelle I; Hamidfar, Rebecca R; Houdouin, Véronique V; Macey, Julie J; Marguet, Christophe C; Murris-Espin, Marlène M; Reynaud, Quitterie Q; Reix, Philippe P; Gaubert, Martine Reynaud MR; Kemgang, Astrid A; Burgel, Pierre-Régis PR; ,
Publication Date: 2022-04-27

Variant appearance in text: N/A
PubMed Link: 35475917
Variant Present in the following documents:
View BVdb publication page



The Canadian Glomerulonephritis Registry (CGNR) and Translational Research Initiative: Rationale and Clinical Research Protocol.

Canadian Journal Of Kidney Health And Disease
Hildebrand, Ainslie M AM; Barua, Moumita M; Barbour, Sean J SJ; Tennankore, Karthik K KK; Cattran, Daniel C DC; Takano, Tomoko T; Lam, Ping P; De Serres, Sacha A SA; Samanta, Ratna R; Hladunewich, Michelle A MA; Fairhead, Todd T; Poyah, Penelope P; Bush, D Danielle DD; MacLaren, Brian B; Sparkes, Dwight D; Boll, Philip P; Jauhal, Arenn A; John, Rohan R; Avila-Casado, Carmen C; Reich, Heather N HN
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35450151
Variant Present in the following documents:
View BVdb publication page



Novel CFTR modulator combinations maximise rescue of G85E and N1303K in rectal organoids.

Erj Open Research
Ensinck, Marjolein M MM; De Keersmaecker, Liesbeth L; Ramalho, Anabela S AS; Cuyx, Senne S; Van Biervliet, Stephanie S; Dupont, Lieven L; Christ, Frauke F; Debyser, Zeger Z; Vermeulen, François F; Carlon, Marianne S MS
Publication Date: 2022-04

Variant appearance in text: CFTR: 1521_1523delCTT; F508del
PubMed Link: 35449760
Variant Present in the following documents:
  • 00716-2021.TABLES1.pdf
  • 00716-2021.SUPPL_FIGS.pdf
  • 00716-2021.pdf
View BVdb publication page



Alterations of mucosa-attached microbiome and epithelial cell numbers in the cystic fibrosis small intestine with implications for intestinal disease.

Scientific Reports
Kelly, Jennifer J; Al-Rammahi, Miran M; Daly, Kristian K; Flanagan, Paul K PK; Urs, Arun A; Cohen, Marta C MC; di Stefano, Gabriella G; Bijvelds, Marcel J C MJC; Sheppard, David N DN; de Jonge, Hugo R HR; Seidler, Ursula E UE; Shirazi-Beechey, Soraya P SP
Publication Date: 2022-04-21

Variant appearance in text: N/A
PubMed Link: 35449374
Variant Present in the following documents:
View BVdb publication page



Losartan ameliorates TGF-β1-induced CFTR dysfunction and improves correction by cystic fibrosis modulator therapies.

The Journal Of Clinical Investigation
Kim, Michael D MD; Bengtson, Charles D CD; Yoshida, Makoto M; Niloy, Asef J AJ; Dennis, John S JS; Baumlin, Nathalie N; Salathe, Matthias M
Publication Date: 2022-04-21

Variant appearance in text: N/A
PubMed Link: 35446787
Variant Present in the following documents:
View BVdb publication page



Bone accrual and structural changes over one year in youth with cystic fibrosis.

Journal Of Clinical & Translational Endocrinology
Bass, Rosara M RM; Zemel, Babette S BS; Stallings, Virginia A VA; Leonard, Mary B MB; Tsao, Jaime J; Kelly, Andrea A
Publication Date: 2022-06

Variant appearance in text: N/A
PubMed Link: 35433270
Variant Present in the following documents:
View BVdb publication page



Coming Full Circle: Reflections and Inspirations from a Cystic Fibrosis Patient Scientist Panel.

Inquiry : A Journal Of Medical Care Organization, Provision And Financing
Nowakowski, Alexandra Xan C H AXCH; Balasa, Gabriella Ella GE; Figueira, Miriam F MF; LaRosa, Francis Tré J FTJ; Lawlor, James M J JMJ
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35420504
Variant Present in the following documents:
View BVdb publication page



Spatial covariance analysis reveals the residue-by-residue thermodynamic contribution of variation to the CFTR fold.

Communications Biology
Anglès, Frédéric F; Wang, Chao C; Balch, William E WE
Publication Date: 2022-04-13

Variant appearance in text: N/A
PubMed Link: 35418593
Variant Present in the following documents:
View BVdb publication page



CFTR modulator use and risk of nontuberculous mycobacteria positivity in cystic fibrosis, 2011-2018.

Erj Open Research
Ricotta, Emily E EE; Prevots, D Rebecca DR; Olivier, Kenneth N KN
Publication Date: 2022-04

Variant appearance in text: N/A
PubMed Link: 35415188
Variant Present in the following documents:
View BVdb publication page



Systemic bis-phosphinic acid derivative restores chloride transport in Cystic Fibrosis mice.

Scientific Reports
da Cunha, Mélanie Faria MF; Pranke, Iwona I; Sassi, Ali A; Schreiweis, Christiane C; Moriceau, Stéphanie S; Vidovic, Dragana D; Hatton, Aurélie A; Carlon, Mariane Sylvia MS; Creste, Geordie G; Berhal, Farouk F; Prestat, Guillaume G; Freund, Romain R; Odolczyk, Norbert N; Jais, Jean Philippe JP; Gravier-Pelletier, Christine C; Zielenkiewicz, Piotr P; Jullien, Vincent V; Hinzpeter, Alexandre A; Oury, Franck F; Edelman, Aleksander A; Sermet-Gaudelus, Isabelle I
Publication Date: 2022-04-12

Variant appearance in text: N/A
PubMed Link: 35413967
Variant Present in the following documents:
View BVdb publication page



Cystic Fibrosis-Related Diabetes in Poland.

International Journal Of Environmental Research And Public Health
Rachel, Marta M; Biesiadecki, Marek M; Galiniak, Sabina S
Publication Date: 2022-03-29

Variant appearance in text: N/A
PubMed Link: 35409752
Variant Present in the following documents:
View BVdb publication page



The Effect of CFTR Modulators on Airway Infection in Cystic Fibrosis.

International Journal Of Molecular Sciences
Harvey, Caitlyn C; Weldon, Sinead S; Elborn, Stuart S; Downey, Damian G DG; Taggart, Clifford C
Publication Date: 2022-03-23

Variant appearance in text: N/A
PubMed Link: 35408875
Variant Present in the following documents:
View BVdb publication page



CFTR Modulator Therapies: Potential Impact on Airway Infections in Cystic Fibrosis.

Cells
Saluzzo, Francesca F; Riberi, Luca L; Messore, Barbara B; Loré, Nicola Ivan NI; Esposito, Irene I; Bignamini, Elisabetta E; De Rose, Virginia V
Publication Date: 2022-04-06

Variant appearance in text: N/A
PubMed Link: 35406809
Variant Present in the following documents:
View BVdb publication page



Targeting of Ubiquitin E3 Ligase RNF5 as a Novel Therapeutic Strategy in Neuroectodermal Tumors.

Cancers
Principi, Elisa E; Sondo, Elvira E; Bianchi, Giovanna G; Ravera, Silvia S; Morini, Martina M; Tomati, Valeria V; Pastorino, Cristina C; Zara, Federico F; Bruno, Claudio C; Eva, Alessandra A; Pedemonte, Nicoletta N; Raffaghello, Lizzia L
Publication Date: 2022-04-01

Variant appearance in text: N/A
PubMed Link: 35406574
Variant Present in the following documents:
View BVdb publication page



Pancreatic Enzyme Replacement Therapy in Cystic Fibrosis.

Nutrients
Freswick, Peter N PN; Reid, Elizabeth K EK; Mascarenhas, Maria R MR
Publication Date: 2022-03-23

Variant appearance in text: N/A
PubMed Link: 35405954
Variant Present in the following documents:
View BVdb publication page



Correlates of Pancreatic Enzyme Replacement Therapy Intake in Adults with Cystic Fibrosis: Results of a Cross-Sectional Study.

Nutrients
Olsen, Mette F MF; Kjøller-Svarre, Maria S MS; Møller, Grith G; Katzenstein, Terese L TL; Nielsen, Bibi U BU; Pressler, Tacjana T; Lewis, Jack I JI; Mathiesen, Inger H IH; Mølgaard, Christian C; Faurholt-Jepsen, Daniel D
Publication Date: 2022-03-22

Variant appearance in text: N/A
PubMed Link: 35405943
Variant Present in the following documents:
View BVdb publication page



Genetic evidence supports the development of SLC26A9 targeting therapies for the treatment of lung disease.

Npj Genomic Medicine
Gong, Jiafen J; He, Gengming G; Wang, Cheng C; Bartlett, Claire C; Panjwani, Naim N; Mastromatteo, Scott S; Lin, Fan F; Keenan, Katherine K; Avolio, Julie J; Halevy, Anat A; Shaw, Michelle M; Esmaeili, Mohsen M; Côté-Maurais, Guillaume G; Adam, Damien D; Bégin, Stéphanie S; Bjornson, Candice C; Chilvers, Mark M; Reisman, Joe J; Price, April A; Parkins, Michael M; van Wylick, Richard R; Berthiaume, Yves Y; Bilodeau, Lara L; Mateos-Corral, Dimas D; Hughes, Daniel D; Smith, Mary J MJ; Morrison, Nancy N; Brusky, Janna J; Tullis, Elizabeth E; Stephenson, Anne L AL; Quon, Bradley S BS; Wilcox, Pearce P; Leung, Winnie M WM; Solomon, Melinda M; Sun, Lei L; Brochiero, Emmanuelle E; Moraes, Theo J TJ; Gonska, Tanja T; Ratjen, Felix F; Rommens, Johanna M JM; Strug, Lisa J LJ
Publication Date: 2022-04-08

Variant appearance in text: CFTR: 1521_1523delCTT; Phe508del
PubMed Link: 35396391
Variant Present in the following documents:
  • 41525_2022_Article_299.pdf
View BVdb publication page



Best practices for the interpretation and reporting of clinical whole genome sequencing.

Npj Genomic Medicine
Austin-Tse, Christina A CA; Jobanputra, Vaidehi V; Perry, Denise L DL; Bick, David D; Taft, Ryan J RJ; Venner, Eric E; Gibbs, Richard A RA; Young, Ted T; Barnett, Sarah S; Belmont, John W JW; Boczek, Nicole N; Chowdhury, Shimul S; Ellsworth, Katarzyna A KA; Guha, Saurav S; Kulkarni, Shashikant S; Marcou, Cherisse C; Meng, Linyan L; Murdock, David R DR; Rehman, Atteeq U AU; Spiteri, Elizabeth E; Thomas-Wilson, Amanda A; Kearney, Hutton M HM; Rehm, Heidi L HL; ,
Publication Date: 2022-04-08

Variant appearance in text: CFTR: 1520_1522del; Phe508del
PubMed Link: 35395838
Variant Present in the following documents:
  • 41525_2022_295_MOESM5_ESM.xlsx
View BVdb publication page



Investigating the Implications of CFTR Exon Skipping Using a Cftr Exon 9 Deleted Mouse Model.

Frontiers In Pharmacology
Martinovich, Kelly M KM; Kicic, Anthony A; Stick, Stephen M SM; Johnsen, Russell D RD; Fletcher, Sue S; Wilton, Steve D SD
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35392567
Variant Present in the following documents:
View BVdb publication page



Surface conjugation of antibodies improves nanoparticle uptake in bronchial epithelial cells.

Plos One
Luks, Valerie L VL; Mandl, Hanna H; DiRito, Jenna J; Barone, Christina C; Freedman-Weiss, Mollie R MR; Ricciardi, Adele S AS; Tietjen, Gregory G GG; Egan, Marie E ME; Saltzman, W Mark WM; Stitelman, David H DH
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35385514
Variant Present in the following documents:
View BVdb publication page



KLF5 inhibition overcomes oxaliplatin resistance in patient-derived colorectal cancer organoids by restoring apoptotic response.

Cell Death & Disease
Shen, Xiaohui X; Zhang, Yuchen Y; Xu, Zhuoqing Z; Gao, Han H; Feng, Wenqing W; Li, Wenchang W; Miao, Yiming Y; Xu, Zifeng Z; Zong, Yaping Y; Zhao, Jingkun J; Lu, Aiguo A
Publication Date: 2022-04-05

Variant appearance in text: N/A
PubMed Link: 35379798
Variant Present in the following documents:
View BVdb publication page



Proteostasis Regulators in Cystic Fibrosis: Current Development and Future Perspectives.

Journal Of Medicinal Chemistry
Brusa, Irene I; Sondo, Elvira E; Falchi, Federico F; Pedemonte, Nicoletta N; Roberti, Marinella M; Cavalli, Andrea A
Publication Date: 2022-04-04

Variant appearance in text: N/A
PubMed Link: 35377645
Variant Present in the following documents:
View BVdb publication page



SLC6A14 Impacts Cystic Fibrosis Lung Disease Severity via mTOR and Epithelial Repair Modulation.

Frontiers In Molecular Biosciences
Mercier, Julia J; Calmel, Claire C; Mésinèle, Julie J; Sutanto, Erika E; Merabtene, Fatiha F; Longchampt, Elisabeth E; Sage, Edouard E; Kicic, Anthony A; Boëlle, Pierre-Yves PY; Corvol, Harriet H; Ruffin, Manon M; Guillot, Loïc L
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35372502
Variant Present in the following documents:
View BVdb publication page



Pathophysiology of Lung Disease and Wound Repair in Cystic Fibrosis.

Pathophysiology : The Official Journal Of The International Society For Pathophysiology
Conese, Massimo M; Di Gioia, Sante S
Publication Date: 2021-03-10

Variant appearance in text: N/A
PubMed Link: 35366275
Variant Present in the following documents:
View BVdb publication page



Lung clearance index to characterize clinical phenotypes of children and adolescents with cystic fibrosis.

Bmc Pulmonary Medicine
Gambazza, Simone S; Ambrogi, Federico F; Carta, Federica F; Moroni, Laura L; Russo, Maria M; Brivio, Anna A; Colombo, Carla C
Publication Date: 2022-04-01

Variant appearance in text: N/A
PubMed Link: 35365111
Variant Present in the following documents:
View BVdb publication page



High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients.

Bmc Genomics
Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Vasilyeva, Tatyana A TA; Balinova, Natalia V NV; Marakhonov, Andrey V AV; Kondratyeva, Elena I EI; Zhekaite, Elena K EK; Voronkova, Anna Y AY; Kutsev, Sergey I SI; Zinchenko, Rena A RA
Publication Date: 2022-04-01

Variant appearance in text: CFTR: 1521_1523delCTT; Phe508del
PubMed Link: 35365085
Variant Present in the following documents:
  • 12864_2022_Article_8466.pdf
View BVdb publication page



Efficacy and Safety of Triple Combination Cystic Fibrosis Transmembrane Conductance Regulator Modulators in Patients With Cystic Fibrosis: A Meta-Analysis of Randomized Controlled Trials.

Frontiers In Pharmacology
Wang, Yizi Y; Ma, Bin B; Li, Wenya W; Li, Peiwen P
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35359862
Variant Present in the following documents:
View BVdb publication page



The Ubiquitin Ligase RNF34 Participates in the Peripheral Quality Control of CFTR (RNF34 Role in CFTR PeriQC).

Frontiers In Molecular Biosciences
Taniguchi, Shogo S; Ito, Yukiko Y; Kiritani, Hibiki H; Maruo, Asuka A; Sakai, Ryohei R; Ono, Yuji Y; Fukuda, Ryosuke R; Okiyoneda, Tsukasa T
Publication Date: 2022

Variant appearance in text: N/A
PubMed Link: 35355508
Variant Present in the following documents:
View BVdb publication page



Characterization of glucose metabolism in youth with vs. without cystic fibrosis liver disease: A pilot study.

Journal Of Clinical & Translational Endocrinology
Socorro Rayas, Maria M; Hughan, Kara S KS; Javaid, Rida R; Kelly, Andrea A; Salehi, Marzieh M
Publication Date: 2022-06

Variant appearance in text: N/A
PubMed Link: 35342717
Variant Present in the following documents:
View BVdb publication page



COVID-19 in a pregnant cystic fibrosis carrier with myasthenia gravis: A case report.

Case Reports In Women'S Health
Coté, John J JJ; Granger, Peter P; Mishra, Anjali A; Sorini, Giavanna G
Publication Date: 2022-04

Variant appearance in text: N/A
PubMed Link: 35340780
Variant Present in the following documents:
View BVdb publication page



Journey on VX-809-Based Hybrid Derivatives towards Drug-like F508del-CFTR Correctors: From Molecular Modeling to Chemical Synthesis and Biological Assays.

Pharmaceuticals (Basel, Switzerland)
Parodi, Alice A; Righetti, Giada G; Pesce, Emanuela E; Salis, Annalisa A; Tomati, Valeria V; Pastorino, Cristina C; Tasso, Bruno B; Benvenuti, Mirko M; Damonte, Gianluca G; Pedemonte, Nicoletta N; Cichero, Elena E; Millo, Enrico E
Publication Date: 2022-02-23

Variant appearance in text: N/A
PubMed Link: 35337072
Variant Present in the following documents:
View BVdb publication page



The Changing Landscape of Nutrition in Cystic Fibrosis: The Emergence of Overweight and Obesity.

Nutrients
Bailey, Julianna J; Krick, Stefanie S; Fontaine, Kevin R KR
Publication Date: 2022-03-13

Variant appearance in text: N/A
PubMed Link: 35334873
Variant Present in the following documents:
View BVdb publication page



One year monitoring of SARS-CoV-2 prevalence in a German cohort of patients with cystic fibrosis.

Bmc Pulmonary Medicine
Jaudszus, Anke A; Pavlova, Mariya M; Rasche, Marius M; Baier, Michael M; Moeser, Anne A; Lorenz, Michael M
Publication Date: 2022-03-24

Variant appearance in text: N/A
PubMed Link: 35331203
Variant Present in the following documents:
View BVdb publication page