Publications:

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Dry Powder Inhalation for Lung Delivery in Cystic Fibrosis.

Pharmaceutics

Han, Xiaoxuan X; Li, Danni D; Reyes-Ortega, Felisa F; Schneider-Futschik, Elena K EK

Publication Date: 2023-05-13

Variant appearance in text: CFTR: S549N

PubMed Link: 37242730

Variant Present in the following documents:

• Main text
• pharmaceutics-15-01488.pdf

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The Association between CFTR Gene Mutation Heterozygosity and Asthma Development: A Systematic Review.

Journal Of Clinical Medicine

Koumpagioti, Despoina D; Moriki, Dafni D; Boutopoulou, Barbara B; Matziou, Vasiliki V; Loukou, Ioanna I; Priftis, Kostas N KN; Douros, Konstantinos K

Publication Date: 2023-03-21

Variant appearance in text: CFTR: S549N

PubMed Link: 36983403

Variant Present in the following documents:

• jcm-12-02403.pdf

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Outcomes of children with cystic fibrosis screen positive, inconclusive diagnosis/CFTR related metabolic syndrome.

Frontiers In Pediatrics

Gunnett, Mohini A MA; Baker, Elizabeth E; Mims, Cathy C; Self, Staci T ST; Gutierrez, Hector H HH; Guimbellot, Jennifer S JS

Publication Date: 2023

Variant appearance in text: CFTR: S549N

PubMed Link: 36969284

Variant Present in the following documents:

• Main text
• fped-11-1127659.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: CFTR: 1646G>A; Ser549Asn

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.

Children (Basel, Switzerland)

Conti, Jessica J; Sorio, Claudio C; Melotti, Paola P

Publication Date: 2022-12-20

Variant appearance in text: CFTR: S549N

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

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Role of inhaled antibiotics in the era of highly effective CFTR modulators.

European Respiratory Review : An Official Journal Of The European Respiratory Society

Elborn, J Stuart JS; Blasi, Francesco F; Burgel, Pierre-Régis PR; Peckham, Daniel D

Publication Date: 2023-03-31

Variant appearance in text: CFTR: S549N

PubMed Link: 36631132

Variant Present in the following documents:

• Main text
• ERR-0154-2022.pdf

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CFTR gene variants, air pollution, and childhood asthma in a California Medicaid population.

Pediatric Pulmonology

Thilakaratne, Ruwan R; Graham, Steve S; Moua, John J; Jones, Caitlin G CG; Collins, Caroline C; Mann, Jennifer J; Sciortino, Stanley S; Wong, Jacklyn J; Kharrazi, Martin M

Publication Date: 2022-11

Variant appearance in text: CFTR: 1646G>A; S549N

PubMed Link: 35933722

Variant Present in the following documents:

• Main text
• PPUL-57-2798.pdf

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The Exocrine Pancreas in Cystic Fibrosis in the Era of CFTR Modulation: A Mini Review.

Frontiers In Pediatrics

McKay, Isabelle R IR; Ooi, Chee Y CY

Publication Date: 2022

Variant appearance in text: CFTR: S549N

PubMed Link: 35832587

Variant Present in the following documents:

• Main text
• fped-10-914790.pdf

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One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies.

Cells

Ensinck, Marjolein M MM; Carlon, Marianne S MS

Publication Date: 2022-06-08

Variant appearance in text: CFTR: 1646G>A; S549N

PubMed Link: 35740997

Variant Present in the following documents:

• Main text
• cells-11-01868.pdf

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CFTR Modulators in People with Cystic Fibrosis: Real-World Evidence in France.

Cells

Regard, Lucile L; Martin, Clémence C; Burnet, Espérie E; Da Silva, Jennifer J; Burgel, Pierre-Régis PR

Publication Date: 2022-05-28

Variant appearance in text: CFTR: S549N

PubMed Link: 35681464

Variant Present in the following documents:

• cells-11-01769.pdf

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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: S549N

PubMed Link: 35647563

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

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Author Correction: 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: 2022-05-18

Variant appearance in text: CFTR: S549N

PubMed Link: 35585144

Variant Present in the following documents:

• 42003_2022_3457_MOESM1_ESM.pdf

View BVdb publication page

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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: CFTR: S549N

PubMed Link: 35525974

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2350.pdf

View BVdb publication page

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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: CFTR: S549N

PubMed Link: 35406809

Variant Present in the following documents:

• Main text
• cells-11-01243.pdf

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Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases

Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X

Publication Date: 2022-03-21

Variant appearance in text: CFTR: 1646G>A; S549N

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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REAL-world clinical effectiveness of ivacaftor therapy in the first 24 months in two infants with cystic fibrosis and different gating mutations-A case report.

Clinical Case Reports

Fuchs, Teresa T; Appelt, Dorothea D; Niedermayr, Katharina K; Ellemunter, Helmut H

Publication Date: 2022-02

Variant appearance in text: CFTR: S549N

PubMed Link: 35154718

Variant Present in the following documents:

• Main text
• CCR3-10-e05364.pdf

View BVdb publication page

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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: S549N

PubMed Link: 35072004

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: S549N

PubMed Link: 35035569

Variant Present in the following documents:

• Main text
• EDU-0112-2021.pdf

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Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.

Cells

Lopes-Pacheco, Miquéias M; Bacalhau, Mafalda M; Ramalho, Sofia S SS; Silva, Iris A L IAL; Ferreira, Filipa C FC; Carlile, Graeme W GW; Thomas, David Y DY; Farinha, Carlos M CM; Hanrahan, John W JW; Amaral, Margarida D MD

Publication Date: 2022-01-01

Variant appearance in text: CFTR: S549N

PubMed Link: 35011698

Variant Present in the following documents:

• Main text
• cells-11-00136.pdf

View BVdb publication page

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Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.

Cells

Lopes-Pacheco, Miquéias M; Bacalhau, Mafalda M; Ramalho, Sofia S SS; Silva, Iris A L IAL; Ferreira, Filipa C FC; Carlile, Graeme W GW; Thomas, David Y DY; Farinha, Carlos M CM; Hanrahan, John W JW; Amaral, Margarida D MD

Publication Date: 2022-01-01

Variant appearance in text: CFTR: S549N

PubMed Link: 35011698

Variant Present in the following documents:

• Main text
• cells-11-00136.pdf

View BVdb publication page

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Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.

International Journal Of Neonatal Screening

Sicko, Robert J RJ; Stevens, Colleen F CF; Hughes, Erin E EE; Leisner, Melissa M; Ling, Helen H; Saavedra-Matiz, Carlos A CA; Caggana, Michele M; Kay, Denise M DM

Publication Date: 2021-11-02

Variant appearance in text: CFTR: 1646G>A; S549N

PubMed Link: 34842611

Variant Present in the following documents:

• Main text
• IJNS-07-00073.pdf

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The determinants of survival among adults with cystic fibrosis-a cohort study.

Journal Of Physiological Anthropology

Durda-Masny, Magdalena M; Goździk-Spychalska, Joanna J; John, Aleksandra A; Czaiński, Wojciech W; Stróżewska, Weronika W; Pawłowska, Natalia N; Wlizło, Jolanta J; Batura-Gabryel, Halina H; Szwed, Anita A

Publication Date: 2021-11-08

Variant appearance in text: CFTR: S549N

PubMed Link: 34749804

Variant Present in the following documents:

• Main text

View BVdb publication page

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Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics

Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W

Publication Date: 2021-11-05

Variant appearance in text: rs121908755

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health.

Human Genetics

Zhou, Yitian Y; Lauschke, Volker M VM

Publication Date: 2022-06

Variant appearance in text: rs121908755

PubMed Link: 34652573

Variant Present in the following documents:

• 439_2021_2385_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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A small molecule CFTR potentiator restores ATP-dependent channel gating to the cystic fibrosis mutant G551D-CFTR.

British Journal Of Pharmacology

Liu, Jia J; Berg, Allison P AP; Wang, Yiting Y; Jantarajit, Walailak W; Sutcliffe, Katy J KJ; Stevens, Edward B EB; Cao, Lishuang L; Pregel, Marko J MJ; Sheppard, David N DN

Publication Date: 2022-04

Variant appearance in text: CFTR: S549N

PubMed Link: 34644413

Variant Present in the following documents:

• Main text
• BPH-179-1319.pdf

View BVdb publication page

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State of the Art on Approved Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators and Triple-Combination Therapy.

Pharmaceuticals (Basel, Switzerland)

Meoli, Aniello A; Fainardi, Valentina V; Deolmi, Michela M; Chiopris, Giulia G; Marinelli, Francesca F; Caminiti, Caterina C; Esposito, Susanna S; Pisi, Giovanna G

Publication Date: 2021-09-15

Variant appearance in text: CFTR: S549N

PubMed Link: 34577628

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00928.pdf

View BVdb publication page

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs121908755

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

View BVdb publication page

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Pharmacological Modulation of Ion Channels for the Treatment of Cystic Fibrosis.

Journal Of Experimental Pharmacology

Pinto, Madalena C MC; Silva, Iris A L IAL; Figueira, Miriam F MF; Amaral, Margarida D MD; Lopes-Pacheco, Miquéias M

Publication Date: 2021

Variant appearance in text: CFTR: S549N

PubMed Link: 34326672

Variant Present in the following documents:

• Main text

View BVdb publication page

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Anti-Inflammatory Influences of Cystic Fibrosis Transmembrane Conductance Regulator Drugs on Lung Inflammation in Cystic Fibrosis.

International Journal Of Molecular Sciences

Harwood, Kiera H KH; McQuade, Rachel M RM; Jarnicki, Andrew A; Schneider-Futschik, Elena K EK

Publication Date: 2021-07-16

Variant appearance in text: CFTR: S549N

PubMed Link: 34299226

Variant Present in the following documents:

• Main text
• ijms-22-07606.pdf

View BVdb publication page

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Cystic Fibrosis Human Organs-on-a-Chip.

Micromachines

Ogden, Herbert Luke HL; Kim, Hoyeol H; Wikenheiser-Brokamp, Kathryn A KA; Naren, Anjaparavanda P AP; Mun, Kyu Shik KS

Publication Date: 2021-06-25

Variant appearance in text: CFTR: S549N

PubMed Link: 34202364

Variant Present in the following documents:

• Main text
• micromachines-12-00747.pdf

View BVdb publication page

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New Therapies to Correct the Cystic Fibrosis Basic Defect.

International Journal Of Molecular Sciences

Bergeron, Christelle C; Cantin, André M AM

Publication Date: 2021-06-08

Variant appearance in text: CFTR: S549N

PubMed Link: 34201249

Variant Present in the following documents:

• Main text

View BVdb publication page

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Real-World Long-Term Ivacaftor for Cystic Fibrosis in France: Clinical Effectiveness and Healthcare Resource Utilization.

Pulmonary Therapy

Hubert, Dominique D; Marguet, Christophe C; Benichou, Jacques J; DeSouza, Cynthia C; Payen-Champenois, Catherine C; Kinnman, Nils N; Chandarana, Keval K; Munck, Anne A; Fajac, Isabelle I; ,

Publication Date: 2021-12

Variant appearance in text: CFTR: S549N

PubMed Link: 34101145

Variant Present in the following documents:

• Main text
• 41030_2021_Article_158.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: CFTR: 1646G>A; Ser549Asn; rs121908755

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Treatment of Pulmonary Disease of Cystic Fibrosis: A Comprehensive Review.

Antibiotics (Basel, Switzerland)

Girón Moreno, Rosa María RM; García-Clemente, Marta M; Diab-Cáceres, Layla L; Martínez-Vergara, Adrián A; Martínez-García, Miguel Ángel MÁ; Gómez-Punter, Rosa Mar RM

Publication Date: 2021-04-23

Variant appearance in text: CFTR: S549N

PubMed Link: 33922413

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of Potential Leukocyte Biomarkers Related to Drug Recovery of CFTR: Clinical Applications in Cystic Fibrosis.

International Journal Of Molecular Sciences

Pedrazzi, Marco M; Vercellone, Silvia S; Barberis, Elettra E; Capraro, Michela M; De Tullio, Roberta R; Cresta, Federico F; Casciaro, Rosaria R; Castellani, Carlo C; Patrone, Mauro M; Marengo, Emilio E; Lecca, Paola P; Melotti, Paola P; Sorio, Claudio C; Manfredi, Marcello M; Averna, Monica M

Publication Date: 2021-04-10

Variant appearance in text: CFTR: S549N

PubMed Link: 33920274

Variant Present in the following documents:

• Main text

View BVdb publication page

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Real-World Outcomes of Ivacaftor Treatment in People with Cystic Fibrosis: A Systematic Review.

Journal Of Clinical Medicine

Duckers, Jamie J; Lesher, Beth B; Thorat, Teja T; Lucas, Eleanor E; McGarry, Lisa J LJ; Chandarana, Keval K; De Iorio, Fosca F

Publication Date: 2021-04-06

Variant appearance in text: CFTR: S549N

PubMed Link: 33917386

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetics of CFTR and male infertility.

Translational Andrology And Urology

Bieniek, Jared M JM; Lapin, Craig D CD; Jarvi, Keith A KA

Publication Date: 2021-03

Variant appearance in text: CFTR: S549N

PubMed Link: 33850775

Variant Present in the following documents:

• Main text
• tau-10-03-1391.pdf

View BVdb publication page

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Phenotypic Presentations of Cystic Fibrosis in Children of African Descent.

Genes

Mayer Lacrosniere, Sophie S; Gerardin, Michele M; Clainche-Viala, Laurence Le LL; Houdouin, Veronique V

Publication Date: 2021-03-23

Variant appearance in text: CFTR: S549N

PubMed Link: 33807078

Variant Present in the following documents:

• Main text
• genes-12-00458.pdf

View BVdb publication page

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Cystic Fibrosis Newborn Screening in Austria Using PAP and the Numeric Product of PAP and IRT Concentrations as Second-Tier Parameters.

Diagnostics (Basel, Switzerland)

Zeyda, Maximilian M; Schanzer, Andrea A; Basek, Pavel P; Bauer, Vera V; Eber, Ernst E; Ellemunter, Helmut H; Kallinger, Margit M; Riedler, Josef J; Thir, Christina C; Wadlegger, Franz F; Zacharasiewicz, Angela A; Renner, Sabine S

Publication Date: 2021-02-13

Variant appearance in text: CFTR: S549N

PubMed Link: 33668470

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.

Disease Markers

Cambraia, Amanda A; Junior, Mario Campos MC; Zembrzuski, Verônica Marques VM; Junqueira, Ricardo Magrani RM; Cabello, Pedro Hernán PH; de Cabello, Giselda Maria Kalil GMK

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 33613790

Variant Present in the following documents:

View BVdb publication page

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Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics

Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY

Publication Date: 2021-02

Variant appearance in text: CFTR: 1646G>A; rs121908755

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s003.xlsx, sheet 1

View BVdb publication page

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New Therapeutic Approaches in Cystic Fibrosis.

Turkish Journal Of Pharmaceutical Sciences

Fakıoğlu, Dolunay Merve DM; Altun, Beril B

Publication Date: 2020-12-23

Variant appearance in text: CFTR: S549N

PubMed Link: 33389985

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Multifaceted Roles of MicroRNAs in Cystic Fibrosis.

Diagnostics (Basel, Switzerland)

De Palma, Fatima Domenica Elisa FDE; Raia, Valeria V; Kroemer, Guido G; Maiuri, Maria Chiara MC

Publication Date: 2020-12-17

Variant appearance in text: CFTR: S549N

PubMed Link: 33348555

Variant Present in the following documents:

• Main text

View BVdb publication page

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Corrector therapies (with or without potentiators) for people with cystic fibrosis with class II CFTR gene variants (most commonly F508del).

The Cochrane Database Of Systematic Reviews

Southern, Kevin W KW; Murphy, Jared J; Sinha, Ian P IP; Nevitt, Sarah J SJ

Publication Date: 2020-12-17

Variant appearance in text: CFTR: S549N

PubMed Link: 33331662

Variant Present in the following documents:

• Main text

View BVdb publication page

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The era of CFTR modulators: improvements made and remaining challenges.

Breathe (Sheffield, England)

Cuevas-Ocaña, Sara S; Laselva, Onofrio O; Avolio, Julie J; Nenna, Raffaella R

Publication Date: 2020-06

Variant appearance in text: CFTR: S549N

PubMed Link: 33304402

Variant Present in the following documents:

• Main text

View BVdb publication page

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Safety and efficacy of the cystic fibrosis transmembrane conductance regulator potentiator icenticaftor (QBW251).

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society

Kazani, Shamsah S; Rowlands, David J DJ; Bottoli, Ivan I; Milojevic, Julie J; Alcantara, Jose J; Jones, Ieuan I; Kulmatycki, Kenneth K; Machineni, Surendra S; Mostovy, Lidia L; Nicholls, Ian I; Nick, Jerry A JA; Rowe, Steven M SM; Simmonds, Nicholas J NJ; Vegesna, Raju R; Verheijen, Jeroen J; Danahay, Henry H; Gosling, Martin M; Ayalavajjala, Phaninatha Sarma PS; Salman, Mohammed M; Strieter, Robert R

Publication Date: 2021-03

Variant appearance in text: CFTR: S549N

PubMed Link: 33293212

Variant Present in the following documents:

• Main text
• nihms-1785429.pdf

View BVdb publication page

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