CFTR c.532G>A ;(p.G178R)

Variant ID: 7-117174372-G-A

NM_000492.3(CFTR):c.532G>A;(p.G178R)

This variant was identified in 149 publications

View GRCh38 version.




Publications:


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: G178R
PubMed Link: 37242730
Variant Present in the following documents:
  • Main text
  • pharmaceutics-15-01488.pdf
View BVdb publication page



Correlation of Electrophysiological and Fluorescence-Based Measurements of Modulator Efficacy in Nasal Epithelial Cultures Derived from People with Cystic Fibrosis.

Cells
Gunawardena, Tarini N A TNA; Bozóky, Zoltán Z; Bartlett, Claire C; Ouyang, Hong H; Eckford, Paul D W PDW; Moraes, Theo J TJ; Ratjen, Felix F; Gonska, Tanja T; Bear, Christine E CE
Publication Date: 2023-04-17

Variant appearance in text: CFTR: G178R
PubMed Link: 37190083
Variant Present in the following documents:
  • Main text
  • cells-12-01174.pdf
View BVdb publication page



Validating organoid-derived human intestinal monolayers for personalized therapy in cystic fibrosis.

Life Science Alliance
Birimberg-Schwartz, Liron L; Ip, Wan W; Bartlett, Claire C; Avolio, Julie J; Vonk, Annelotte M AM; Gunawardena, Tarini T; Du, Kai K; Esmaeili, Mohsen M; Beekman, Jeffrey M JM; Rommens, Johanna J; Strug, Lisa L; Bear, Christine E CE; Moraes, Theo J TJ; Gonska, Tanja T
Publication Date: 2023-06

Variant appearance in text: CFTR: G178R
PubMed Link: 37024122
Variant Present in the following documents:
  • LSA-2022-01857.pdf
View BVdb publication page



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: 532G>A; Gly178Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: G178R
PubMed Link: 36670555
Variant Present in the following documents:
  • children-10-00004.pdf
View BVdb publication page



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: G178R
PubMed Link: 36631132
Variant Present in the following documents:
  • Main text
  • ERR-0154-2022.pdf
View BVdb publication page



Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.

Scientific Reports
Qu, Xiaowei X; Li, Lingyi L; Cui, Chenchen C; Feng, Ke K; Xia, Yanqing Y; Wan, Feng F; Zhang, Cuilian C; Guo, Haibin H
Publication Date: 2023-01-05

Variant appearance in text: CFTR: 532G>A; Gly178Arg
PubMed Link: 36604502
Variant Present in the following documents:
  • 41598_2022_26384_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology
Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C
Publication Date: 2022

Variant appearance in text: CFTR: 532G>A; G178R
PubMed Link: 36387164
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Pathogenic Variants Spectrum and Allele Frequency of the CFTR Gene in Asians.

Allergy, Asthma & Immunology Research
Kim, Jong-Won JW
Publication Date: 2022-09

Variant appearance in text: CFTR: Gly178Arg
PubMed Link: 36174988
Variant Present in the following documents:
  • aair-14-444.pdf
View BVdb publication page



Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

Journal Of Medical Genetics
Shen, Yuelin Y; Tang, Xiaolei X; Chen, Qionghua Q; Xu, Hui H; Liu, Hui H; Liu, Jinrong J; Yang, Haiming H; Li, Huimin H; Zhao, Shunying S
Publication Date: 2022-07-20

Variant appearance in text: CFTR: 532G>A; Gly178Arg
PubMed Link: 35858753
Variant Present in the following documents:
  • jmg-2022-108501supp001.pdf
View BVdb publication page



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: G178R
PubMed Link: 35832587
Variant Present in the following documents:
  • Main text
  • fped-10-914790.pdf
View BVdb publication page



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: 532G>A; G178R
PubMed Link: 35740997
Variant Present in the following documents:
  • Main text
  • cells-11-01868.pdf
View BVdb publication page



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: G178R
PubMed Link: 35681464
Variant Present in the following documents:
  • cells-11-01769.pdf
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: G178R
PubMed Link: 35647563
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
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: CFTR: G178R
PubMed Link: 35620188
Variant Present in the following documents:
  • Main text
  • 10.1177_20406223221098136.pdf
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: CFTR: G178R
PubMed Link: 35525974
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2350.pdf
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: CFTR: G178R
PubMed Link: 35406809
Variant Present in the following documents:
  • cells-11-01243.pdf
View BVdb publication page



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: 532G>A; G178R
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM3_ESM.xls, sheet 1
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: G178R
PubMed Link: 35072004
Variant Present in the following documents:
  • Main text
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: G178R
PubMed Link: 35035569
Variant Present in the following documents:
  • Main text
  • EDU-0112-2021.pdf
View BVdb publication page



Clinical characteristics and outcome of SARS -CoV-2 infection in patients with cystic fibrosis managed at home.

Pulmonology
Terlizzi, V V; Francalanci, M M; Taccetti, G G
Publication Date: 2022

Variant appearance in text: CFTR: G178R
PubMed Link: 34852971
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Clinical characteristics and outcome of SARS -CoV-2 infection in patients with cystic fibrosis managed at home.

Pulmonology
Terlizzi, V V; Francalanci, M M; Taccetti, G G
Publication Date: 2021-11-15

Variant appearance in text: CFTR: G178R
PubMed Link: 34852971
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Comprehensive Analysis of Combinatorial Pharmacological Treatments to Correct Nonsense Mutations in the CFTR Gene.

International Journal Of Molecular Sciences
Venturini, Arianna A; Borrelli, Anna A; Musante, Ilaria I; Scudieri, Paolo P; Capurro, Valeria V; Renda, Mario M; Pedemonte, Nicoletta N; Galietta, Luis J V LJV
Publication Date: 2021-11-04

Variant appearance in text: CFTR: G178R
PubMed Link: 34769402
Variant Present in the following documents:
  • Main text
  • ijms-22-11972.pdf
View BVdb publication page



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: G178R
PubMed Link: 34749804
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs80282562
PubMed Link: 34740355
Variant Present in the following documents:
  • 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: G178R
PubMed Link: 34577628
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-14-00928.pdf
View BVdb publication page



Projecting the impact of triple CFTR modulator therapy on intravenous antibiotic requirements in cystic fibrosis using patient registry data combined with treatment effects from randomised trials.

Thorax
Keogh, Ruth H RH; Cosgriff, Rebecca R; Andrinopoulou, Eleni-Rosalina ER; Brownlee, Keith G KG; Carr, Siobhán B SB; Diaz-Ordaz, Karla K; Granger, Emily E; Jewell, Nicholas P NP; Lewin, Alex A; Leyrat, Clemence C; Schlüter, Daniela K DK; van Smeden, Maarten M; Szczesniak, Rhonda D RD; Connett, Gary J GJ
Publication Date: 2022-09

Variant appearance in text: CFTR: G178R
PubMed Link: 34556554
Variant Present in the following documents:
  • thoraxjnl-2020-216265supp001.pdf
View BVdb publication page



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: rs80282562
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



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: G178R
PubMed Link: 34326672
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: G178R
PubMed Link: 34299226
Variant Present in the following documents:
  • Main text
  • ijms-22-07606.pdf
View BVdb publication page



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: G178R
PubMed Link: 34202364
Variant Present in the following documents:
  • Main text
  • micromachines-12-00747.pdf
View BVdb publication page



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: G178R
PubMed Link: 34201249
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: G178R
PubMed Link: 34101145
Variant Present in the following documents:
  • Main text
  • 41030_2021_Article_158.pdf
View BVdb publication page



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: 532G>A; Gly178Arg; rs80282562
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: G178R
PubMed Link: 33922413
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: G178R
PubMed Link: 33920274
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: G178R
PubMed Link: 33917386
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 532G>A; rs80282562
PubMed Link: 33600428
Variant Present in the following documents:
  • pgen.1009323.s003.xlsx, sheet 1
View BVdb publication page



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: G178R
PubMed Link: 33389985
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: G178R
PubMed Link: 33331662
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel therapeutic approaches for the management of cystic fibrosis.

Multidisciplinary Respiratory Medicine
Jaques, Ryan R; Shakeel, Arslan A; Hoyle, Cameron C
Publication Date: 2020-01-28

Variant appearance in text: CFTR: G178R
PubMed Link: 33282281
Variant Present in the following documents:
  • Main text
  • mrm-15-1-690.pdf
View BVdb publication page



G970R-CFTR Mutation (c.2908G>C) Results Predominantly in a Splicing Defect.

Clinical And Translational Science
Fidler, Meredith C MC; Buckley, Alexandra A; Sullivan, James C JC; Statia, Marvin M; Boj, Sylvia F SF; Vries, Robert G J RGJ; Munck, Anne A; Higgins, Mark M; Moretto Zita, Matteo M; Negulescu, Paul P; van Goor, Fredrick F; De Boeck, Kris K
Publication Date: 2021-03

Variant appearance in text: CFTR: G178R
PubMed Link: 33278322
Variant Present in the following documents:
  • Main text
View BVdb publication page



Current Treatment Options for Cystic Fibrosis-Related Liver Disease.

International Journal Of Molecular Sciences
Staufer, Katharina K
Publication Date: 2020-11-14

Variant appearance in text: CFTR: G178R
PubMed Link: 33202578
Variant Present in the following documents:
  • Main text
  • ijms-21-08586.pdf
View BVdb publication page



Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.

International Journal Of Neonatal Screening
Sinclair, Graham G; McMahon, Vanessa V; Schellenberg, Amy A; Nelson, Tanya N TN; Chilvers, Mark M; Vallance, Hilary H
Publication Date: 2020-06

Variant appearance in text: CFTR: G178R
PubMed Link: 33073036
Variant Present in the following documents:
  • IJNS-06-00046-s001.xlsx, sheet 1
View BVdb publication page



Ivacaftor in Infants Aged 4 to <12 Months with Cystic Fibrosis and a Gating Mutation. Results of a Two-Part Phase 3 Clinical Trial.

American Journal Of Respiratory And Critical Care Medicine
Davies, Jane C JC; Wainwright, Claire E CE; Sawicki, Gregory S GS; Higgins, Mark N MN; Campbell, Daniel D; Harris, Christopher C; Panorchan, Paul P; Haseltine, Eric E; Tian, Simon S; Rosenfeld, Margaret M
Publication Date: 2021-03-01

Variant appearance in text: CFTR: G178R
PubMed Link: 33023304
Variant Present in the following documents:
  • Main text
View BVdb publication page



Fluorescence assay for simultaneous quantification of CFTR ion-channel function and plasma membrane proximity.

The Journal Of Biological Chemistry
Prins, Stella S; Langron, Emily E; Hastings, Cato C; Hill, Emily J EJ; Stefan, Andra C AC; Griffin, Lewis D LD; Vergani, Paola P
Publication Date: 2020-12-04

Variant appearance in text: CFTR: G178R
PubMed Link: 32934006
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Epithelial vectorial ion transport in cystic fibrosis: Dysfunction, measurement, and pharmacotherapy to target the primary deficit.

Sage Open Medicine
Clunes, Lucy A LA; McMillan-Castanares, Naia N; Mehta, Neil N; Mesadieu, Afia A; Rodriguez, Jorge J; Maj, Mary M; Clunes, Mark T MT
Publication Date: 2020

Variant appearance in text: CFTR: G178R
PubMed Link: 32637102
Variant Present in the following documents:
  • Main text
  • 10.1177_2050312120933807.pdf
View BVdb publication page



Pharmacogenetics: An Important Part of Drug Development with A Focus on Its Application.

International Journal Of Biomedical Investigation
Oates, J T JT; Lopez, D D
Publication Date: 2018

Variant appearance in text: CFTR: G178R
PubMed Link: 32467882
Variant Present in the following documents:
  • Main text
View BVdb publication page