Variant ID: 7-117227860-G-A

NM_000492.3(CFTR):c.1652G>A;(p.G551D)

This variant was identified in 1251 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: CFTR: G551D
PubMed Link: 35668939
Variant Present in the following documents:
  • Main text
  • fphar-13-876842.pdf
View BVdb publication page



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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



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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