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

Variant ID: 7-117227860-G-A

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

This variant was identified in 1242 publications

View GRCh38 version.




Publications:


Cystic fibrosis modulator therapy can reverse cystic bronchiectasis.

Respirology Case Reports
Middleton, Peter G PG; Simmonds, Nicholas J NJ
Publication Date: 2023-07

Variant appearance in text: CFTR: G551D
PubMed Link: 37323158
Variant Present in the following documents:
  • Main text
  • RCR2-11-e01172.pdf
View BVdb publication page



Crosslink between SARS-CoV-2 replication and cystic fibrosis hallmarks.

Frontiers In Microbiology
Lotti, Virginia V; Lagni, Anna A; Diani, Erica E; Sorio, Claudio C; Gibellini, Davide D
Publication Date: 2023

Variant appearance in text: CFTR: G551D
PubMed Link: 37250046
Variant Present in the following documents:
  • fmicb-14-1162470.pdf
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Pre-Processing a Polymer Blend into a Polymer Alloy by KinetiSol Enables Increased Ivacaftor Amorphous Solid Dispersion Drug Loading and Dissolution.

Biomedicines
Thompson, Stephen A SA; Davis, Daniel A DA; Miller, Dave A DA; Kucera, Sandra U SU; Williams, Robert O RO
Publication Date: 2023-04-26

Variant appearance in text: CFTR: G551D
PubMed Link: 37238952
Variant Present in the following documents:
  • biomedicines-11-01281.pdf
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Dietary intake assessment in children with cystic fibrosis using 3-day food diaries: a single-centre study.

Frontiers In Pediatrics
Gaschignard, Margaux M; Beaufils, Fabien F; Gallet, Pauline P; Clouzeau, Haude H; Menard, Joris J; Costanzo, Aurélie A; Nouard, Lucie L; Delhaes, Laurence L; Tetard, Candice C; Lamireau, Thierry T; Fayon, Michael M; Bui, Stéphanie S; Enaud, Raphaël R
Publication Date: 2023

Variant appearance in text: CFTR: G551D
PubMed Link: 37228437
Variant Present in the following documents:
  • fped-11-1130792.pdf
View BVdb publication page



Acute Pancreatitis in a Previously Exocrine Pancreatic Insufficient Cystic Fibrosis Patient Who Had Improved Pancreatic Function After Being Treated With Lumacaftor/Ivacaftor.

Jpgn Reports
Redman, Alexander W AW; Yoo, Michelle M; Freswick, Peter P; Thompson, Karen K
Publication Date: 2021-08

Variant appearance in text: CFTR: G551D
PubMed Link: 37205952
Variant Present in the following documents:
  • Main text
  • pg9-2-e096.pdf
View BVdb publication page



Critical role of down-regulated in adenoma bicarbonate transporter in linaclotide stimulated intestinal bicarbonate secretion.

Biorxiv : The Preprint Server For Biology
Sarthi, Jessica B JB; Trumbull, Annie M AM; Abazari, Shayda M SM; van Unen, Vincent V; Chan, Joshua E JE; Joo, Nam Soo NS; Jiang, Yanfen Y; Kuo, Calvin J CJ; Sellers, Zachary M ZM
Publication Date: 2023-05-07

Variant appearance in text: CFTR: G551D
PubMed Link: 37205513
Variant Present in the following documents:
  • Main text
  • nihpp-2023.05.05.539132v1.pdf
View BVdb publication page



Inflammation as a Regulator of the Airway Surface Liquid pH in Cystic Fibrosis.

Cells
Rehman, Tayyab T; Welsh, Michael J MJ
Publication Date: 2023-04-07

Variant appearance in text: CFTR: G551D
PubMed Link: 37190013
Variant Present in the following documents:
  • cells-12-01104.pdf
View BVdb publication page



Individualized approach to elexacaftor/tezacaftor/ivacaftor dosing in cystic fibrosis, in response to self-reported anxiety and neurocognitive adverse events: A case series.

Frontiers In Pharmacology
Ibrahim, Hisham H; Danish, Hammad H; Morrissey, David D; Deasy, Kevin F KF; McCarthy, Mairead M; Dorgan, James J; Fleming, Claire C; Howlett, Ciara C; Twohig, Sarah S; Vagg, Tamara T; Murphy, Desmond M DM; Maher, Michael M; Plant, Barry J BJ
Publication Date: 2023

Variant appearance in text: CFTR: G551D
PubMed Link: 37180712
Variant Present in the following documents:
  • Main text
  • fphar-14-1156621.pdf
View BVdb publication page



FDA-Approved Fluorinated Heterocyclic Drugs from 2016 to 2022.

International Journal Of Molecular Sciences
Rizzo, Carla C; Amata, Sara S; Pibiri, Ivana I; Pace, Andrea A; Buscemi, Silvestre S; Palumbo Piccionello, Antonio A
Publication Date: 2023-04-23

Variant appearance in text: CFTR: G551D
PubMed Link: 37175436
Variant Present in the following documents:
  • ijms-24-07728.pdf
View BVdb publication page



ROCK STUDY in CF: sustained anti-inflammatory effects of lumacaftor-ivacaftor in sputum and peripheral blood samples of adult patients with cystic fibrosis-an observational study.

Bmj Open Respiratory Research
Arooj, Parniya P; Morrissy, David V DV; McCarthy, Yvonne Y; Vagg, Tamara T; McCarthy, Mairead M; Fleming, Claire C; Daly, Mary M; Eustace, Joseph A JA; Murphy, Desmond M DM; Plant, B J BJ
Publication Date: 2023-05

Variant appearance in text: CFTR: G551D
PubMed Link: 37130650
Variant Present in the following documents:
  • Main text
  • bmjresp-2022-001590.pdf
View BVdb publication page



Antibiotic Therapy for Pulmonary Exacerbations in Cystic Fibrosis-A Single-Centre Prospective Observational Study.

Antibiotics (Basel, Switzerland)
Schwarz, Carsten C; Wimmer, Eliana E; Holz, Frederik F; Grehn, Claudia C; Staab, Doris D; Eschenhagen, Patience Ndidi PN
Publication Date: 2023-04-09

Variant appearance in text: CFTR: G551D
PubMed Link: 37107096
Variant Present in the following documents:
  • antibiotics-12-00734.pdf
View BVdb publication page



Long-term effects of lumacaftor/ivacaftor on paranasal sinus abnormalities in children with cystic fibrosis detected with magnetic resonance imaging.

Frontiers In Pharmacology
Wucherpfennig, Lena L; Wuennemann, Felix F; Eichinger, Monika M; Seitz, Angelika A; Baumann, Ingo I; Stahl, Mirjam M; Graeber, Simon Y SY; Zhao, Shengkai S; Chung, Jaehi J; Schenk, Jens-Peter JP; Alrajab, Abdulsattar A; Kauczor, Hans-Ulrich HU; Mall, Marcus A MA; Sommerburg, Olaf O; Wielpütz, Mark O MO
Publication Date: 2023

Variant appearance in text: CFTR: G551D
PubMed Link: 37101549
Variant Present in the following documents:
  • fphar-14-1161891.pdf
View BVdb publication page



Nutritional impact of CFTR modulators in children with cystic fibrosis.

Frontiers In Pediatrics
Gaschignard, Margaux M; Beaufils, Fabien F; Lussac-Sorton, Florian F; Gallet, Pauline P; Clouzeau, Haude H; Menard, Joris J; Costanzo, Aurélie A; Nouard, Lucie L; Delhaes, Laurence L; Tetard, Candice C; Lamireau, Thierry T; Fayon, Michael M; Bui, Stéphanie S; Enaud, Raphaël R
Publication Date: 2023

Variant appearance in text: CFTR: G551D
PubMed Link: 37063653
Variant Present in the following documents:
  • fped-11-1130790.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: G551D
PubMed Link: 37024122
Variant Present in the following documents:
  • LSA-2022-01857.pdf
View BVdb publication page



The synthetic aminoglycoside ELX-02 induces readthrough of G550X-CFTR producing super-functional protein that can be further enhanced by CFTR modulators.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Chen, Jianguo J; Thrasher, Kari K; Fu, Lianwu L; Wang, Wei W; Aghamohammadzadeh, Soheil S; Wen, Hui H; Tang, Liping L; Keeling, Kim M KM; Falk Libby, Emily E; Bedwell, David M DM; Rowe, Steven M SM
Publication Date: 2023-04-04

Variant appearance in text: CFTR: G551D
PubMed Link: 37014818
Variant Present in the following documents:
  • Main text
View BVdb publication page



Magnetic resonance imaging detects onset and association with lung disease severity of bronchial artery dilatation in cystic fibrosis.

Erj Open Research
Leutz-Schmidt, Patricia P; Optazaite, Daiva-Elzbieta DE; Sommerburg, Olaf O; Eichinger, Monika M; Wege, Sabine S; Steinke, Eva E; Graeber, Simon Y SY; Puderbach, Michael U MU; Schenk, Jens-Peter JP; Alrajab, Abdulsattar A; Triphan, Simon M F SMF; Kauczor, Hans-Ulrich HU; Stahl, Mirjam M; Mall, Marcus A MA; Wielpütz, Mark O MO
Publication Date: 2023-03

Variant appearance in text: CFTR: G551D
PubMed Link: 37009019
Variant Present in the following documents:
  • 00473-2022.SUPPLEMENT.pdf
View BVdb publication page



Efficacy and Safety of Elexacaftor-Tezacaftor-Ivacaftor in the Treatment of Cystic Fibrosis: A Systematic Review.

Children (Basel, Switzerland)
Kapouni, Nikoletta N; Moustaki, Maria M; Douros, Konstantinos K; Loukou, Ioanna I
Publication Date: 2023-03-15

Variant appearance in text: CFTR: G551D
PubMed Link: 36980112
Variant Present in the following documents:
  • Main text
  • children-10-00554.pdf
View BVdb publication page



Immunoreactive Trypsinogen in Infants Born to Women with Cystic Fibrosis Taking Elexacaftor-Tezacaftor-Ivacaftor.

International Journal Of Neonatal Screening
Patel, Payal P; Yeley, Jana J; Brown, Cynthia C; Wesson, Melissa M; Lesko, Barbara G BG; Slaven, James E JE; Chmiel, James F JF; Jain, Raksha R; Sanders, Don B DB
Publication Date: 2023-02-21

Variant appearance in text: CFTR: G551D
PubMed Link: 36975847
Variant Present in the following documents:
  • Main text
  • IJNS-09-00010.pdf
View BVdb publication page



Effects of Lumacaftor-Ivacaftor on Airway Microbiota-Mycobiota and Inflammation in Patients with Cystic Fibrosis Appear To Be Linked to Pseudomonas aeruginosa Chronic Colonization.

Microbiology Spectrum
Enaud, Raphael R; Lussac-Sorton, Florian F; Charpentier, Elena E; Velo-Suárez, Lourdes L; Guiraud, Jennifer J; Bui, Stéphanie S; Fayon, Michael M; Schaeverbeke, Thierry T; Nikolski, Macha M; , ; Burgel, Pierre-Régis PR; Héry-Arnaud, Geneviève G; Delhaes, Laurence L
Publication Date: 2023-03-27

Variant appearance in text: CFTR: G551D
PubMed Link: 36971560
Variant Present in the following documents:
  • Main text
  • spectrum.02251-22.pdf
View BVdb publication page



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

Frontiers In Pediatrics
Gunnett, Mohini A MA; Baker, Elizabeth E; Mims, Cathy C; Self, Staci T ST; Gutierrez, Hector H HH; Guimbellot, Jennifer S JS
Publication Date: 2023

Variant appearance in text: CFTR: G551D
PubMed Link: 36969284
Variant Present in the following documents:
  • Main text
  • fped-11-1127659.pdf
View BVdb publication page



Immunosuppression reduces rAAV2.5T neutralizing antibodies that limit efficacy following repeat dosing to ferret lungs.

Molecular Therapy. Methods & Clinical Development
Tang, Yinghua Y; Fakhari, Shahab S; Huntemann, Eric D ED; Feng, Zehua Z; Wu, Peipei P; Feng, William Y WY; Lei, Junying J; Yuan, Feng F; Excoffon, Katherine J KJ; Wang, Kai K; Limberis, Maria P MP; Kolbeck, Roland R; Yan, Ziying Z; Engelhardt, John F JF
Publication Date: 2023-06-08

Variant appearance in text: CFTR: G551D
PubMed Link: 36950451
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
View BVdb publication page



Pharmacological modulation of chloride channels as a therapeutic strategy for neurological disorders.

Frontiers In Physiology
Wang, Zhiyu Z; Choi, Kaylee K
Publication Date: 2023

Variant appearance in text: CFTR: G551D
PubMed Link: 36935741
Variant Present in the following documents:
  • Main text
  • fphys-14-1122444.pdf
View BVdb publication page



A year in review (2022): Modulators and COVID19, the story goes on….

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Dillenhoefer, Stefanie S; Grogono, Dorothy D; Morales-Tirado, Ana A
Publication Date: 2023-03-06

Variant appearance in text: CFTR: G551D
PubMed Link: 36906393
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



SLC26A9 in airways and intestine: secretion or absorption?

Channels (Austin, Tex.)
Kunzelmann, Karl K; Centeio, Raquel R; Ousingsawat, Jiraporn J; Talbi, Khaoula K; Seidler, Ursula U; Schreiber, Rainer R
Publication Date: 2023-12

Variant appearance in text: CFTR: G551D
PubMed Link: 36866602
Variant Present in the following documents:
  • KCHL_17_2186434.pdf
View BVdb publication page



Precision information extraction for rare disease epidemiology at scale.

Journal Of Translational Medicine
Kariampuzha, William Z WZ; Alyea, Gioconda G; Qu, Sue S; Sanjak, Jaleal J; Mathé, Ewy E; Sid, Eric E; Chatelaine, Haley H; Yadaw, Arjun A; Xu, Yanji Y; Zhu, Qian Q
Publication Date: 2023-02-28

Variant appearance in text: CFTR: G551D
PubMed Link: 36855134
Variant Present in the following documents:
  • 12967_2023_4011_MOESM1_ESM.xlsx, sheet 5
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: 1652G>A; Gly551Asp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Pharmacogenetic actionability and medication prescribing in people with cystic fibrosis.

Clinical And Translational Science
Anderson, Justin D JD; Davis, Brittney H BH; Giang, Gracie G; Jones, April A; Lee, Cameron R CR; Parker, Kennedy K; Searcy, Heather H; Benner, Kim K; Limdi, Nita A NA; Guimbellot, Jennifer S JS
Publication Date: 2023-02-09

Variant appearance in text: CFTR: G551D
PubMed Link: 36760155
Variant Present in the following documents:
  • Main text
  • CTS-16-662.pdf
View BVdb publication page



Effects of CFTR-modulator triple therapy on sinunasal symptoms in children and adults with cystic fibrosis.

European Archives Of Oto-Rhino-Laryngology : Official Journal Of The European Federation Of Oto-Rhino-Laryngological Societies (Eufos) : Affiliated With The German Society For Oto-Rhino-Laryngology - Head And Neck Surgery
Bode, Sebastian F N SFN; Rapp, Hannes H; Lienert, Nadine N; Appel, Heike H; Fabricius, Dorit D
Publication Date: 2023-02-04

Variant appearance in text: CFTR: G551D
PubMed Link: 36738326
Variant Present in the following documents:
  • Main text
  • 405_2023_Article_7859.pdf
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: G551D
PubMed Link: 36670555
Variant Present in the following documents:
  • children-10-00004.pdf
View BVdb publication page



Nasal epithelial cell culture fluorescence recovery after photobleaching predicts cystic fibrosis therapeutic response.

Erj Open Research
Corcoran, Timothy E TE; Bertrand, Carol A CA; Myerburg, Michael M MM; Weiner, Daniel J DJ; Frizzell, Sheila A SA; Li, Anna A; Agostini, Brittani B; Parker, Robert S RS; Shapiro, Monica E ME; Muthukrishnan, Ashok A; Hages, Nicholas D ND; Mulhern, Brian P BP; Pilewski, Joseph M JM
Publication Date: 2022-10

Variant appearance in text: CFTR: G551D
PubMed Link: 36655223
Variant Present in the following documents:
  • 00382-2022.pdf
View BVdb publication page



Assessing Definitions and Incentives Adopted for Innovation for Pharmaceutical Products in Five High-Income Countries: A Systematic Literature Review.

Pharmaceutical Medicine
Wakutsu, Naohiko N; Hirose, Emi E; Yonemoto, Naohiro N; Demiya, Sven S
Publication Date: 2023-01-17

Variant appearance in text: CFTR: G551D
PubMed Link: 36648749
Variant Present in the following documents:
  • 40290_2022_457_MOESM1_ESM.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: G551D
PubMed Link: 36631132
Variant Present in the following documents:
  • Main text
  • ERR-0154-2022.pdf
View BVdb publication page



The CFHealthHub Learning Health System: Using Real-Time Adherence Data to Support a Community of Practice to Deliver Continuous Improvement in an Archetypal Long-Term Condition.

Healthcare (Basel, Switzerland)
Sandler, Robert D RD; Wildman, Martin J MJ; ,
Publication Date: 2022-12-21

Variant appearance in text: CFTR: G551D
PubMed Link: 36611480
Variant Present in the following documents:
  • healthcare-11-00020.pdf
View BVdb publication page



Molecular targets for cystic fibrosis and therapeutic potential of monoclonal antibodies.

Saudi Pharmaceutical Journal : Spj : The Official Publication Of The Saudi Pharmaceutical Society
Moni, Sivakumar S SS; Al Basheer, Asmaa A
Publication Date: 2022-12

Variant appearance in text: CFTR: Gly551Asp
PubMed Link: 36601503
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Moving the Dial on Airway Inflammation in Response to Trikafta® in Adolescents with Cystic Fibrosis.

American Journal Of Respiratory And Critical Care Medicine
Lepissier, Agathe A; Bonnel, Anne Sophie AS; Wizla, Nathalie N; Weiss, Laurence L; Mittaine, Marie M; Bessaci, Katia K; Kerem, Eitan E; Houdouin, Véronique V; Reix, Philippe P; Marguet, Christophe C; Sermet-Gaudelus, Isabelle I; ,
Publication Date: 2023-01-04

Variant appearance in text: CFTR: G551D
PubMed Link: 36599047
Variant Present in the following documents:
  • rccm.202210-1938LE.pdf
View BVdb publication page