Publications:

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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: CFTR: G551D

PubMed Link: 35668939

Variant Present in the following documents:

• Main text
• fphar-13-876842.pdf

View BVdb publication page

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Ivacaftor in Omani children with cystic fibrosis caused by p.Ser549Arg CFTR mutation.

International Journal Of Pediatrics & Adolescent Medicine

Al Oraimi, Sumaya S; Mohsin, Hussain H; Al Musawi, Zainab Z; Al Balushi, Younis Y; Al Shidhani, Khoula K; Al Salmi, Qasem Q

Publication Date: 2022-06

Variant appearance in text: CFTR: G551D

PubMed Link: 35663785

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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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: CFTR: G551D

PubMed Link: 35652053

Variant Present in the following documents:

• Main text
• fped-10-881470.pdf

View BVdb publication page

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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: G551D

PubMed Link: 35647563

Variant Present in the following documents:

• mmc2.pdf
• mmc1.pdf

View BVdb publication page

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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: CFTR: G551D

PubMed Link: 35633979

Variant Present in the following documents:

• fped-10-856840.pdf

View BVdb publication page

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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: CFTR: G551D

PubMed Link: 35627651

Variant Present in the following documents:

• Main text
• ijerph-19-06114.pdf

View BVdb publication page

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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: CFTR: G551D

PubMed Link: 35624092

Variant Present in the following documents:

• Main text
• 41467_2022_30668_MOESM2_ESM.pdf
• 41467_2022_Article_30668.pdf

View BVdb publication page

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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: Gly551Asp

PubMed Link: 35620188

Variant Present in the following documents:

• Main text
• 10.1177_20406223221098136.pdf

View BVdb publication page

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Effect of airway clearance therapies on mucociliary clearance in adults with cystic fibrosis: A randomized controlled trial.

Plos One

Trimble, Aaron A; Zeman, Kirby K; Wu, Jihong J; Ceppe, Agathe A; Bennett, William W; Donaldson, Scott S

Publication Date: 2022

Variant appearance in text: CFTR: G551D

PubMed Link: 35594286

Variant Present in the following documents:

• pone.0268622.pdf

View BVdb publication page

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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: CFTR: G551D

PubMed Link: 35574458

Variant Present in the following documents:

• fphys-13-884166.pdf

View BVdb publication page

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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: G551D

PubMed Link: 35573065

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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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: CFTR: G551D

PubMed Link: 35563895

Variant Present in the following documents:

• cells-11-01587.pdf

View BVdb publication page

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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: CFTR: G551D

PubMed Link: 35529332

Variant Present in the following documents:

• fped-10-852551.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: G551D

PubMed Link: 35525974

Variant Present in the following documents:

• 13023_2022_Article_2350.pdf

View BVdb publication page

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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: G551D

PubMed Link: 35449760

Variant Present in the following documents:

• 00716-2021.pdf

View BVdb publication page

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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: CFTR: G551D

PubMed Link: 35446787

Variant Present in the following documents:

• jci-132-155241-s075.pdf
• jci-132-155241.pdf

View BVdb publication page

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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: CFTR: G551D

PubMed Link: 35418593

Variant Present in the following documents:

• 42003_2022_Article_3302.pdf

View BVdb publication page

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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: CFTR: G551D

PubMed Link: 35415188

Variant Present in the following documents:

• 00724-2021.pdf

View BVdb publication page

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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: CFTR: G551D

PubMed Link: 35408875

Variant Present in the following documents:

• ijms-23-03513.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: G551D

PubMed Link: 35406809

Variant Present in the following documents:

• cells-11-01243.pdf

View BVdb publication page

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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: CFTR: G551D

PubMed Link: 35405954

Variant Present in the following documents:

• nutrients-14-01341.pdf

View BVdb publication page

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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: 1652G>A; G551D

PubMed Link: 35396391

Variant Present in the following documents:

• 41525_2022_Article_299.pdf

View BVdb publication page

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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: CFTR: G551D

PubMed Link: 35379798

Variant Present in the following documents:

• 41419_2022_4773_MOESM9_ESM.xlsx

View BVdb publication page

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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: CFTR: G551D

PubMed Link: 35377645

Variant Present in the following documents:

• jm1c01897.pdf

View BVdb publication page

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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: CFTR: G551D

PubMed Link: 35366275

Variant Present in the following documents:

• pathophysiology-28-00011.pdf

View BVdb publication page

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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: CFTR: Gly551Asp

PubMed Link: 35359862

Variant Present in the following documents:

• fphar-13-863280.pdf

View BVdb publication page

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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: CFTR: G551D

PubMed Link: 35334873

Variant Present in the following documents:

• nutrients-14-01216.pdf

View BVdb publication page

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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: CFTR: G551D

PubMed Link: 35331203

Variant Present in the following documents:

• 12890_2022_Article_1900.pdf

View BVdb publication page

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CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor.

Jci Insight

Raraigh, Karen S KS; Paul, Kathleen C KC; Goralski, Jennifer L JL; Worthington, Erin N EN; Faino, Anna V AV; Sciortino, Stanley S; Wang, Yiting Y; Aksit, Melis A MA; Ling, Hua H; Osorio, Derek L DL; Onchiri, Frankline M FM; Patel, Shivani U SU; Merlo, Christian A CA; Montemayor, Kristina K; Gibson, Ronald L RL; West, Natalie E NE; Thakerar, Amita A; Bridges, Robert J RJ; Sheppard, David N DN; Sharma, Neeraj N; Cutting, Garry R GR

Publication Date: 2022-03-22

Variant appearance in text: CFTR: 1652G>A; G551D

PubMed Link: 35315358

Variant Present in the following documents:

• jciinsight-7-148841-s135.pdf
• jciinsight-7-148841.pdf

View BVdb publication page

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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: 1652G>A; G551D

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM3_ESM.xls

View BVdb publication page

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Variation in CFTR-dependent 'β-sweating' among healthy adults.

Plos One

DeRose, Lesje L; Kim, Jeeyeon J; Farahmand, Miesha M; Shinbashi, Meagan Y MY; Joo, Nam Soo NS; Wine, Jeffrey J JJ

Publication Date: 2022

Variant appearance in text: CFTR: G551D

PubMed Link: 35312728

Variant Present in the following documents:

• pone.0265432.pdf

View BVdb publication page

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Virulence Mechanisms of Mycobacterium abscessus: Current Knowledge and Implications for Vaccine Design.

Frontiers In Microbiology

Ferrell, Kia C KC; Johansen, Matt D MD; Triccas, James A JA; Counoupas, Claudio C

Publication Date: 2022

Variant appearance in text: CFTR: G551D

PubMed Link: 35308378

Variant Present in the following documents:

• fmicb-13-842017.pdf

View BVdb publication page

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The NSAID glafenine rescues class 2 CFTR mutants via cyclooxygenase 2 inhibition of the arachidonic acid pathway.

Scientific Reports

Carlile, Graeme W GW; Yang, Qi Q; Matthes, Elizabeth E; Liao, Jie J; Birault, Véronique V; Sneddon, Helen F HF; Poole, Darren L DL; Hall, Callum J CJ; Hanrahan, John W JW; Thomas, David Y DY

Publication Date: 2022-03-17

Variant appearance in text: CFTR: G551D

PubMed Link: 35302062

Variant Present in the following documents:

• 41598_2022_Article_8661.pdf

View BVdb publication page

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An Adverse Outcome Pathway for Decreased Lung Function Focusing on Mechanisms of Impaired Mucociliary Clearance Following Inhalation Exposure.

Frontiers In Toxicology

Luettich, Karsta K; Sharma, Monita M; Yepiskoposyan, Hasmik H; Breheny, Damien D; Lowe, Frazer J FJ

Publication Date: 2021

Variant appearance in text: CFTR: G551D

PubMed Link: 35295103

Variant Present in the following documents:

• ftox-03-750254.pdf

View BVdb publication page

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What Do We Know about the Microbiome in Cystic Fibrosis? Is There a Role for Probiotics and Prebiotics?

Nutrients

van Dorst, Josie M JM; Tam, Rachel Y RY; Ooi, Chee Y CY

Publication Date: 2022-01-22

Variant appearance in text: CFTR: G551D

PubMed Link: 35276841

Variant Present in the following documents:

• nutrients-14-00480.pdf

View BVdb publication page

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CFTR, Cell Junctions and the Cytoskeleton.

International Journal Of Molecular Sciences

Pankonien, Ines I; Quaresma, Margarida C MC; Rodrigues, Cláudia S CS; Amaral, Margarida D MD

Publication Date: 2022-02-28

Variant appearance in text: CFTR: G551D

PubMed Link: 35269829

Variant Present in the following documents:

• ijms-23-02688.pdf

View BVdb publication page

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Recent Advances in the Production of Genome-Edited Rats.

International Journal Of Molecular Sciences

Sato, Masahiro M; Nakamura, Shingo S; Inada, Emi E; Takabayashi, Shuji S

Publication Date: 2022-02-25

Variant appearance in text: CFTR: G551D

PubMed Link: 35269691

Variant Present in the following documents:

• ijms-23-02548.pdf

View BVdb publication page

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Proximity Profiling of the CFTR Interaction Landscape in Response to Orkambi.

International Journal Of Molecular Sciences

Iazzi, Melissa M; Astori, Audrey A; St-Germain, Jonathan J; Raught, Brian B; Gupta, Gagan D GD

Publication Date: 2022-02-23

Variant appearance in text: CFTR: G551D

PubMed Link: 35269585

Variant Present in the following documents:

• ijms-23-02442.pdf

View BVdb publication page

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The Prognosis of ART Is Not Altered in Cystic Fibrosis Women: A Case-Report Study.

Frontiers In Endocrinology

Braham, Inès I; Morisot, Adeline A; Boukaïdi, Samir S; Perceval, Marie M; Durieu, Isabelle I; Rousset-Jablonski, Christine C; Hieronimus, Sylvie S; Leroy, Sylvie S; Chevalier, Nicolas N

Publication Date: 2022

Variant appearance in text: CFTR: G551D

PubMed Link: 35265034

Variant Present in the following documents:

• fendo-13-773753.pdf

View BVdb publication page

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CFTR Modulators Restore Acidification of Autophago-Lysosomes and Bacterial Clearance in Cystic Fibrosis Macrophages.

Frontiers In Cellular And Infection Microbiology

Badr, Asmaa A; Eltobgy, Mostafa M; Krause, Kathrin K; Hamilton, Kaitlin K; Estfanous, Shady S; Daily, Kylene P KP; Abu Khweek, Arwa A; Hegazi, Ahmad A; Anne, Midhun N K MNK; Carafice, Cierra C; Robledo-Avila, Frank F; Saqr, Youssra Y; Zhang, Xiaoli X; Bonfield, Tracey L TL; Gavrilin, Mikhail A MA; Partida-Sanchez, Santiago S; Seveau, Stephanie S; Cormet-Boyaka, Estelle E; Amer, Amal O AO

Publication Date: 2022

Variant appearance in text: CFTR: G551D

PubMed Link: 35252032

Variant Present in the following documents:

• fcimb-12-819554.pdf

View BVdb publication page

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Nutrition in Cystic Fibrosis-Some Notes on the Fat Recommendations.

Nutrients

Strandvik, Birgitta B

Publication Date: 2022-02-18

Variant appearance in text: CFTR: G551D

PubMed Link: 35215502

Variant Present in the following documents:

• nutrients-14-00853.pdf

View BVdb publication page

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Utilization of the Healthy Eating Index in Cystic Fibrosis.

Nutrients

Bass, Rosara Milstein RM; Tindall, Alyssa A; Sheikh, Saba S

Publication Date: 2022-02-16

Variant appearance in text: CFTR: G551D

PubMed Link: 35215485

Variant Present in the following documents:

• nutrients-14-00834.pdf

View BVdb publication page

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Factors Predisposing the Response to Lumacaftor/Ivacaftor in People with Cystic Fibrosis.

Journal Of Personalized Medicine

Mésinèle, Julie J; Ruffin, Manon M; Guillot, Loïc L; Boëlle, Pierre-Yves PY; Corvol, Harriet H; On Behalf Of The French Cf Modifier Gene Study Investigators,

Publication Date: 2022-02-10

Variant appearance in text: CFTR: G551D

PubMed Link: 35207740

Variant Present in the following documents:

• jpm-12-00252.pdf

View BVdb publication page

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Elexacaftor/Tezacaftor/Ivacaftor in Patients with Cystic Fibrosis Homozygous for the F508del Mutation and Advanced Lung Disease: A 48-Week Observational Study.

Journal Of Clinical Medicine

Carnovale, Vincenzo V; Iacotucci, Paola P; Terlizzi, Vito V; Colangelo, Carmela C; Ferrillo, Lorenza L; Pepe, Angela A; Francalanci, Michela M; Taccetti, Giovanni G; Buonaurio, Serena S; Celardo, Assunta A; Salvadori, Laura L; Marsicovetere, Giovanni G; D'Andria, Michele M; Ferrara, Nicola N; Salvatore, Donatello D

Publication Date: 2022-02-16

Variant appearance in text: CFTR: G551D

PubMed Link: 35207295

Variant Present in the following documents:

• jcm-11-01021.pdf

View BVdb publication page

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SLC26A9 as a Potential Modifier and Therapeutic Target in Cystic Fibrosis Lung Disease.

Biomolecules

Gorrieri, Giulia G; Zara, Federico F; Scudieri, Paolo P

Publication Date: 2022-01-25

Variant appearance in text: CFTR: G551D

PubMed Link: 35204703

Variant Present in the following documents:

• biomolecules-12-00202.pdf

View BVdb publication page

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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-02-15

Variant appearance in text: CFTR: 1652G>A; Gly551Asp; rs75527207

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx

View BVdb publication page

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Genistein-Opportunities Related to an Interesting Molecule of Natural Origin.

Molecules (Basel, Switzerland)

Garbiec, Ewa E; Cielecka-Piontek, Judyta J; Kowalówka, Magdalena M; Hołubiec, Magdalena M; Zalewski, Przemysław P

Publication Date: 2022-01-26

Variant appearance in text: CFTR: G551D

PubMed Link: 35164079

Variant Present in the following documents:

• molecules-27-00815.pdf

View BVdb publication page

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Assays of CFTR Function In Vitro, Ex Vivo and In Vivo.

International Journal Of Molecular Sciences

Ramalho, Anabela Santo AS; Boon, Mieke M; Proesmans, Marijke M; Vermeulen, François F; Carlon, Marianne S MS; Boeck, Kris De K

Publication Date: 2022-01-27

Variant appearance in text: CFTR: G551D

PubMed Link: 35163362

Variant Present in the following documents:

• Main text
• ijms-23-01437.pdf

View BVdb publication page

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Intestinal Inflammation and Alterations in the Gut Microbiota in Cystic Fibrosis: A Review of the Current Evidence, Pathophysiology and Future Directions.

Journal Of Clinical Medicine

Tam, Rachel Y RY; van Dorst, Josie M JM; McKay, Isabelle I; Coffey, Michael M; Ooi, Chee Y CY

Publication Date: 2022-01-27

Variant appearance in text: CFTR: G551D

PubMed Link: 35160099

Variant Present in the following documents:

• Main text
• jcm-11-00649.pdf

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: G551D

PubMed Link: 35154718

Variant Present in the following documents:

• Main text
• CCR3-10-e05364.pdf

View BVdb publication page

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Precision Medicine Based on CFTR Genotype for People with Cystic Fibrosis.

Pharmacogenomics And Personalized Medicine

Haq, Iram I; Almulhem, Maryam M; Soars, Simone S; Poulton, David D; Brodlie, Malcolm M

Publication Date: 2022

Variant appearance in text: CFTR: Gly551Asp

PubMed Link: 35153502

Variant Present in the following documents:

• Main text
• pgpm-15-91.pdf

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Cystic Fibrosis and Sleep Circadian Rhythms.

Pulmonary Therapy

Louis, Mariam M; Staiano, Peter P; Micalo, Lavender L; Chaudary, Nauman N

Publication Date: 2022-02-11

Variant appearance in text: CFTR: G551D

PubMed Link: 35149967

Variant Present in the following documents:

• 41030_2022_Article_184.pdf

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Implementing the use of objective medication adherence data in routine clinical practice via the digital CFHealthHub platform: situation analysis and strategy development using the theoretical domains framework.

Implementation Science Communications

Girling, Carla C; Packham, Anna A; Robinson, Louisa L; Arden, Madelynne A MA; Hind, Daniel D; Wildman, Martin J MJ

Publication Date: 2022-02-08

Variant appearance in text: CFTR: G551D

PubMed Link: 35135620

Variant Present in the following documents:

• 43058_2022_Article_263.pdf

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02-03

Variant appearance in text: CFTR: G551D; rs75527207

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx

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Role of Salivary Biomarkers in Cystic Fibrosis: A Systematic Review.

Biomed Research International

Almeslet, Asma A; Alnamlah, Sarah S; Alanzan, Latifa L; Aldriwesh, Rawan R; AlWehaiby, Sha'eah S

Publication Date: 2022

Variant appearance in text: CFTR: G551D

PubMed Link: 35097122

Variant Present in the following documents:

• BMRI2022-5818840.pdf

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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: G551D

PubMed Link: 35087167

Variant Present in the following documents:

• Main text
• 41598_2022_Article_5446.pdf

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Dilemmas in the Management of Osteoporosis in Younger Adults.

Jbmr Plus

Herath, Madhuni M; Cohen, Adi A; Ebeling, Peter R PR; Milat, Frances F

Publication Date: 2022-01

Variant appearance in text: CFTR: G551D

PubMed Link: 35079682

Variant Present in the following documents:

• Main text

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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: G551D

PubMed Link: 35077663

Variant Present in the following documents:

• rccm.202110-2244ED.pdf

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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: G551D

PubMed Link: 35073504

Variant Present in the following documents:

• rccm.202112-2782ED.pdf

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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: G551D

PubMed Link: 35072004

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.pdf

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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: G551D

PubMed Link: 35062937

Variant Present in the following documents:

• 12890_2022_Article_1825.pdf

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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: G551D

PubMed Link: 35060604

Variant Present in the following documents:

• joces-135-259002_review_history.pdf

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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: Gly551Asp

PubMed Link: 35059303

Variant Present in the following documents:

• main.pdf

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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: G551D

PubMed Link: 35057491

Variant Present in the following documents:

• Main text
• nutrients-14-00310.pdf

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Correction: Dagenais et al. Real-World Safety of CFTR Modulators in the Treatment of Cystic Fibrosis: A Systematic Review. J. Clin. Med. 2021, 10, 23.

Journal Of Clinical Medicine

Dagenais, Renée V E RVE; Su, Victoria C VC; Quon, Bradley S BS

Publication Date: 2022-01-10

Variant appearance in text: CFTR: G551D

PubMed Link: 35054167

Variant Present in the following documents:

• jcm-11-00318.pdf

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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: G551D

PubMed Link: 35035569

Variant Present in the following documents:

• Main text
• EDU-0112-2021.pdf

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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: G551D

PubMed Link: 35035544

Variant Present in the following documents:

• Main text
• EDU-0053-2021.pdf

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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: G551D

PubMed Link: 35028178

Variant Present in the following documents:

• Main text
• main.pdf

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Exon-skipping antisense oligonucleotides for cystic fibrosis therapy.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Kim, Young Jin YJ; Sivetz, Nicole N; Layne, Jessica J; Voss, Dillon M DM; Yang, Lucia L; Zhang, Qian Q; Krainer, Adrian R AR

Publication Date: 2022-01-18

Variant appearance in text: CFTR: G551D

PubMed Link: 35017301

Variant Present in the following documents:

• Main text

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Bicarbonate Transport in Cystic Fibrosis and Pancreatitis.

Cells

Angyal, Dora D; Bijvelds, Marcel J C MJC; Bruno, Marco J MJ; Peppelenbosch, Maikel P MP; de Jonge, Hugo R HR

Publication Date: 2021-12-24

Variant appearance in text: CFTR: G551D

PubMed Link: 35011616

Variant Present in the following documents:

• Main text
• cells-11-00054.pdf

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Channels and Transporters of the Pulmonary Lamellar Body in Health and Disease.

Cells

Dietl, Paul P; Frick, Manfred M

Publication Date: 2021-12-24

Variant appearance in text: CFTR: G551D

PubMed Link: 35011607

Variant Present in the following documents:

• cells-11-00045.pdf

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Treatment of Polarized Cystic Fibrosis Airway Cells With HGF Prevents VX-661-Rescued F508del-CFTR Destabilization Caused by Prolonged Co-exposure to VX-770.

Frontiers In Molecular Biosciences

Matos, Ana M AM; Jordan, Peter P; Matos, Paulo P

Publication Date: 2021

Variant appearance in text: CFTR: G551D

PubMed Link: 35004859

Variant Present in the following documents:

• fmolb-08-812101.pdf

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The sodium/glucose cotransporters as potential therapeutic targets for CF lung diseases revealed by human lung organoid swelling assay.

Molecular Therapy. Methods & Clinical Development

Hirai, Hiroyuki H; Liang, Xiubin X; Sun, Yifei Y; Zhang, Yihan Y; Zhang, Jifeng J; Chen, Y Eugene YE; Mou, Hongmei H; Zhao, Youyang Y; Xu, Jie J

Publication Date: 2022-03-10

Variant appearance in text: CFTR: G551D

PubMed Link: 34977268

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

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Esc peptides as novel potentiators of defective cystic fibrosis transmembrane conductance regulator: an unprecedented property of antimicrobial peptides.

Cellular And Molecular Life Sciences : Cmls

Ferrera, Loretta L; Cappiello, Floriana F; Loffredo, Maria Rosa MR; Puglisi, Elena E; Casciaro, Bruno B; Botta, Bruno B; Galietta, Luis J V LJV; Mori, Mattia M; Mangoni, Maria Luisa ML

Publication Date: 2021-12-31

Variant appearance in text: CFTR: G551D

PubMed Link: 34971429

Variant Present in the following documents:

• 18_2021_Article_4030.pdf

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Most Short Children with Cystic Fibrosis Do Not Catch Up by Adulthood.

Nutrients

Marks, Margaret P MP; Heltshe, Sonya L SL; Baines, Arthur A; Ramsey, Bonnie W BW; Hoffman, Lucas R LR; Stalvey, Michael S MS

Publication Date: 2021-12-10

Variant appearance in text: CFTR: G551D

PubMed Link: 34959966

Variant Present in the following documents:

• Main text
• nutrients-13-04414.pdf

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