Variant ID: 7-117227860-G-A

NM_000492.3(CFTR):c.1652G>A;(p.Gly551Asp)

This variant was identified in 877 publications




Publications:


Proteomics and Metabolomics for Cystic Fibrosis Research.

International Journal Of Molecular Sciences
N Liessi, N Pedemonte, A Armirotti, C Braccia
Publication Date: 2020-07-30

Variant appearance in text: CFTR: G551D
PMID: 32751630
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The impact of ivacaftor on sinonasal pathology in S1251N-mediated cystic fibrosis patients.

Plos One
R Gostelie, I Stegeman, G Berkers, J Bittermann, I Ligtenberg-van der Drift, PV Kipshagen, K de Winter-de Groot, L Speleman
Publication Date: 2020

Variant appearance in text: CFTR: G551D
PMID: 32687499
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Practitioner Due Diligence: Real-World Lumacaftor/Ivacaftor Use.

The Journal Of Pediatric Pharmacology And Therapeutics : Jppt : The Official Journal Of Ppag
EM Stephan, CJ Nemastil, A Salvator, S Gemma, CJ Dilaveris, A Rice, KT Sakellaris, KJ Novak, KS McCoy
Publication Date: 2020

Variant appearance in text: CFTR: Gly551Asp
PMID: 32641913
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Epithelial vectorial ion transport in cystic fibrosis: Dysfunction, measurement, and pharmacotherapy to target the primary deficit.

Sage Open Medicine
LA Clunes, N McMillan-Castanares, N Mehta, A Mesadieu, J Rodriguez, M Maj, MT Clunes
Publication Date: 2020

Variant appearance in text: CFTR: G551D
PMID: 32637102
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Cystic Fibrosis: Overview of the Current Development Trends and Innovative Therapeutic Strategies.

Pharmaceutics
FA Almughem, AM Aldossary, EA Tawfik, MN Alomary, WS Alharbi, MY Alshahrani, AA Alshehri
Publication Date: 2020-07-02

Variant appearance in text: CFTR: G551D
PMID: 32630625
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GM1 as Adjuvant of Innovative Therapies for Cystic Fibrosis Disease.

International Journal Of Molecular Sciences
G Mancini, N Loberto, D Olioso, MC Dechecchi, G Cabrini, L Mauri, R Bassi, D Schiumarini, E Chiricozzi, G Lippi, E Pesce, S Sonnino, N Pedemonte, A Tamanini, M Aureli
Publication Date: 2020-06-24

Variant appearance in text: CFTR: G551D
PMID: 32599772
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Chronic rhinosinusitis in patients with cystic fibrosis-Current management and new treatments.

Laryngoscope Investigative Otolaryngology
BJ Johnson, GW Choby, EK O'Brien
Publication Date: 2020-06

Variant appearance in text: CFTR: G551D
PMID: 32596478
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Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR.

Biomed Research International
C Paz-Y-Miño, AK Zambrano, JC Ruiz-Cabezas, I Armendáriz-Castillo, JM García-Cárdenas, S Guerrero, A López-Cortés, A Pérez-Villa, P Guevara-Ramírez, V Yumiceba, PE Leone
Publication Date: 2020

Variant appearance in text: CFTR: 1652G>A; Gly551Asp
PMID: 32596391
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CFTR modulator therapies - Effect on life expectancy in people with cystic fibrosis.

Paediatric Respiratory Reviews
IM Balfour-Lynn, JA King
Publication Date: 2020-05-26

Variant appearance in text: CFTR: Gly551Asp
PMID: 32565113
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Antisense oligonucleotide-mediated correction of CFTR splicing improves chloride secretion in cystic fibrosis patient-derived bronchial epithelial cells.

Nucleic Acids Research
WE Michaels, RJ Bridges, ML Hastings
Publication Date: 2020-06-10

Variant appearance in text: CFTR: G551D
PMID: 32520327
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Assessing the Performance of Dried-Blood-Spot DNA Extraction Methods in Next Generation Sequencing.

International Journal Of Neonatal Screening
MM Hendrix, CD Cuthbert, SK Cordovado
Publication Date: 2020-04-30

Variant appearance in text: CFTR: 1652G>A; G551D
PMID: 32514487
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Human Nasal Epithelial Organoids for Therapeutic Development in Cystic Fibrosis.

Genes
Z Liu, JD Anderson, L Deng, S Mackay, J Bailey, L Kersh, SM Rowe, JS Guimbellot
Publication Date: 2020-05-29

Variant appearance in text: CFTR: G551D
PMID: 32485957
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Quantitative phase imaging to study transmembrane water fluxes regulated by CFTR and AQP3 in living human airway epithelial CFBE cells and CHO cells.

Plos One
J Llinares, A Cantereau, L Froux, F Becq
Publication Date: 2020

Variant appearance in text: CFTR: G551D
PMID: 32469934
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Pharmacogenetics: An Important Part of Drug Development with A Focus on Its Application.

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

Variant appearance in text: CFTR: G551D
PMID: 32467882
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The Changing Epidemiology of Cystic Fibrosis: Incidence, Survival and Impact of the CFTR Gene Discovery.

Genes
V Scotet, C L'Hostis, C Férec
Publication Date: 2020-05-26

Variant appearance in text: CFTR: G551D
PMID: 32466381
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The intestinal virome in children with cystic fibrosis differs from healthy controls.

Plos One
MJ Coffey, I Low, S Stelzer-Braid, B Wemheuer, M Garg, T Thomas, A Jaffe, WD Rawlinson, CY Ooi
Publication Date: 2020

Variant appearance in text: CFTR: G551D
PMID: 32442222
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Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

Genes
NV Petrova, NY Kashirskaya, TA Vasilyeva, EI Kondratyeva, EK Zhekaite, AY Voronkova, VD Sherman, VA Galkina, EK Ginter, SI Kutsev, AV Marakhonov, RA Zinchenko
Publication Date: 2020-05-15

Variant appearance in text: CFTR: 1652G>A
PMID: 32429104
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The CFTR Mutation c.3453G > C (D1152H) Confers an Anion Selectivity Defect in Primary Airway Tissue that Can Be Rescued by Ivacaftor.

Journal Of Personalized Medicine
O Laselva, TJ Moraes, G He, C Bartlett, I Szàrics, H Ouyang, TNA Gunawardena, L Strug, CE Bear, T Gonska
Publication Date: 2020-05-13

Variant appearance in text: CFTR: 1652G>A; Gly551Asp
PMID: 32414100
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Transcriptomic and Proteostasis Networks of CFTR and the Development of Small Molecule Modulators for the Treatment of Cystic Fibrosis Lung Disease.

Genes
MD Strub, PB McCray
Publication Date: 2020-05-13

Variant appearance in text: CFTR: G551D
PMID: 32414011
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Ivacaftor decreases monocyte sensitivity to interferon-γ in people with cystic fibrosis.

Erj Open Research
KB Hisert, TP Birkland, KQ Schoenfelt, ME Long, B Grogan, S Carter, WC Liles, EF McKone, L Becker, AM Manicone
Publication Date: 2020-04

Variant appearance in text: CFTR: G551D
PMID: 32337217
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Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Ubiquitylation as a Novel Pharmaceutical Target for Cystic Fibrosis.

Pharmaceuticals (Basel, Switzerland)
R Fukuda, T Okiyoneda
Publication Date: 2020-04-22

Variant appearance in text: CFTR: G551D
PMID: 32331485
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Cell free DNA from respiratory pathogens is detectable in the blood plasma of Cystic Fibrosis patients.

Scientific Reports
SLR Barrett, EA Holmes, DR Long, RC Shean, GE Bautista, S Ravishankar, V Peddu, BT Cookson, PK Singh, AL Greninger, SJ Salipante
Publication Date: 2020-04-23

Variant appearance in text: CFTR: G551D
PMID: 32327704
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Medical genetics education in the midst of the COVID-19 pandemic: Shared resources.

American Journal Of Medical Genetics. Part A
DS Regier, WE Smith, HM Byers
Publication Date: 2020-04-23

Variant appearance in text: CFTR: G551D
PMID: 32323908
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Progress in Model Systems of Cystic Fibrosis Mucosal Inflammation to Understand Aberrant Neutrophil Activity.

Frontiers In Immunology
DR Laucirica, LW Garratt, A Kicic
Publication Date: 2020

Variant appearance in text: CFTR: G551D
PMID: 32318073
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The bidirectional relationship between CFTR and lipids.

Communications Biology
KA Cottrill, CM Farinha, NA McCarty
Publication Date: 2020-04-20

Variant appearance in text: CFTR: G551D
PMID: 32313074
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Elexacaftor-Tezacaftor-Ivacaftor: The First Triple-Combination Cystic Fibrosis Transmembrane Conductance Regulator Modulating Therapy.

The Journal Of Pediatric Pharmacology And Therapeutics : Jppt : The Official Journal Of Ppag
K Ridley, M Condren
Publication Date: 2020

Variant appearance in text: CFTR: G551D
PMID: 32265602
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Increased extracellular vesicles mediate inflammatory signalling in cystic fibrosis.

Thorax
Z Useckaite, MP Ward, A Trappe, R Reilly, J Lennon, H Davage, D Matallanas, H Cassidy, ET Dillon, K Brennan, SL Doyle, S Carter, S Donnelly, B Linnane, EF McKone, P McNally, JA Coppinger
Publication Date: 2020-04-07

Variant appearance in text: CFTR: G551D
PMID: 32265339
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Recent Strategic Advances in CFTR Drug Discovery: An Overview.

International Journal Of Molecular Sciences
M Rusnati, P D'Ursi, N Pedemonte, C Urbinati, RC Ford, E Cichero, M Uggeri, A Orro, P Fossa
Publication Date: 2020-03-31

Variant appearance in text: CFTR: G551D
PMID: 32244346
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Treatment of Cystic Fibrosis Patients Homozygous for F508del with Lumacaftor-Ivacaftor (Orkambi®) Restores Defective CFTR Channel Function in Circulating Mononuclear Cells.

International Journal Of Molecular Sciences
M Favia, C Gallo, L Guerra, D De Venuto, A Diana, AM Polizzi, P Montemurro, MA Mariggiò, G Leonetti, A Manca, V Casavola, M Conese
Publication Date: 2020-03-31

Variant appearance in text: CFTR: G551D
PMID: 32244302
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TMEM16A: An Alternative Approach to Restoring Airway Anion Secretion in Cystic Fibrosis?

International Journal Of Molecular Sciences
H Danahay, M Gosling
Publication Date: 2020-03-30

Variant appearance in text: CFTR: G551D
PMID: 32235608
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Leukocyte adhesion defect: Where do we stand circa 2019?

Genes & Diseases
J Das, A Sharma, A Jindal, V Aggarwal, A Rawat
Publication Date: 2020-03

Variant appearance in text: CFTR: G551D
PMID: 32181281
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CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine.

Frontiers In Pharmacology
M Lopes-Pacheco
Publication Date: 2019

Variant appearance in text: CFTR: G551D
PMID: 32153386
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Cost of precision medicine at a referral center for cystic fibrosis.

Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia
FAL Marson
Publication Date: 2020-03-02

Variant appearance in text: CFTR: G551D
PMID: 32130336
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Discovery of a picomolar potency pharmacological corrector of the mutant CFTR chloride channel.

Science Advances
N Pedemonte, F Bertozzi, E Caci, F Sorana, P Di Fruscia, V Tomati, L Ferrera, A Rodríguez-Gimeno, F Berti, E Pesce, E Sondo, A Gianotti, P Scudieri, T Bandiera, LJV Galietta
Publication Date: 2020-02

Variant appearance in text: CFTR: G551D
PMID: 32128418
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Different CFTR modulator combinations downregulate inflammation differently in cystic fibrosis.

Elife
HH Jarosz-Griffiths, T Scambler, CH Wong, S Lara-Reyna, J Holbrook, F Martinon, S Savic, P Whitaker, C Etherington, G Spoletini, I Clifton, A Mehta, MF McDermott, D Peckham
Publication Date: 2020-03-02

Variant appearance in text: CFTR: G551D
PMID: 32118580
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Disease modification and biomarker development in Parkinson disease: Revision or reconstruction?

Neurology
AJ Espay, LV Kalia, Z Gan-Or, CH Williams-Gray, PL Bedard, SM Rowe, F Morgante, A Fasano, B Stecher, MA Kauffman, MJ Farrer, CS Coffey, MA Schwarzschild, T Sherer, RB Postuma, AP Strafella, AB Singleton, RA Barker, K Kieburtz, CW Olanow, A Lozano, JH Kordower, JM Cedarbaum, P Brundin, DG Standaert, AE Lang
Publication Date: 2020-02-26

Variant appearance in text: CFTR: G551D
PMID: 32102975
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Alpha 1-Antitrypsin Deficiency: A Disorder of Proteostasis-Mediated Protein Folding and Trafficking Pathways.

International Journal Of Molecular Sciences
E Karatas, M Bouchecareilh
Publication Date: 2020-02-21

Variant appearance in text: CFTR: G551D
PMID: 32098273
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Lung clearance index in healthy volunteers, measured using a novel portable system with a closed circuit wash-in.

Plos One
AR Horsley, A Alrumuh, B Bianco, K Bayfield, J Tomlinson, A Jones, A Maitra, S Cunningham, J Smith, C Fullwood, A Pandyan, FJ Gilchrist
Publication Date: 2020

Variant appearance in text: CFTR: G551D
PMID: 32097445
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Plasma microRNA levels in male and female children with cystic fibrosis.

Scientific Reports
C Mooney, PJ McKiernan, R Raoof, DC Henshall, B Linnane, P McNally, AMA Glasgow, CM Greene
Publication Date: 2020-01-24

Variant appearance in text: CFTR: G551D
PMID: 31980676
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Cystic fibrosis transmembrane conductance regulator dysfunction in platelets drives lung hyperinflammation.

The Journal Of Clinical Investigation
G Ortiz-Munoz, MA Yu, E Lefrançais, B Mallavia, C Valet, JJ Tian, S Ranucci, KM Wang, Z Liu, N Kwaan, D Dawson, ME Kleinhenz, FT Khasawneh, PM Haggie, AS Verkman, MR Looney
Publication Date: 2020-01-21

Variant appearance in text: CFTR: G551D
PMID: 31961827
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Regulation of CFTR Biogenesis by the Proteostatic Network and Pharmacological Modulators.

International Journal Of Molecular Sciences
S Estabrooks, JL Brodsky
Publication Date: 2020-01-10

Variant appearance in text: CFTR: G551D
PMID: 31936842
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A brief history of human disease genetics.

Nature
M Claussnitzer, JH Cho, R Collins, NJ Cox, ET Dermitzakis, ME Hurles, S Kathiresan, EE Kenny, CM Lindgren, DG MacArthur, KN North, SE Plon, HL Rehm, N Risch, CN Rotimi, J Shendure, N Soranzo, MI McCarthy
Publication Date: 2020-01

Variant appearance in text: CFTR: G551D
PMID: 31915397
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Towards next generation therapies for cystic fibrosis: Folding, function and pharmacology of CFTR.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
SJ Bose, G Krainer, DRS Ng, M Schenkel, H Shishido, JS Yoon, PM Haggie, M Schlierf, DN Sheppard, WR Skach
Publication Date: 2020-01-02

Variant appearance in text: CFTR: G551D
PMID: 31902693
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Ivacaftor for the Treatment of Cystic Fibrosis Coexisting with Trisomy 21: A Case Report.

Cureus
E Charbek, G Kamel, RP Nayak
Publication Date: 2019-11-18

Variant appearance in text: CFTR: G551D
PMID: 31890385
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Gene therapy-emulating small molecule treatments in cystic fibrosis airway epithelial cells and patients.

Respiratory Research
Q Yang, AR Soltis, G Sukumar, X Zhang, H Caohuy, J Freedy, CL Dalgard, MD Wilkerson, HB Pollard, BS Pollard
Publication Date: 2019-12-21

Variant appearance in text: CFTR: Gly551Asp
PMID: 31864360
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Evaluating Long-Term Benefits of Chronic Azithromycin: Furthering Our Quest for Precision Medicine.

American Journal Of Respiratory And Critical Care Medicine
L Saiman, MS Schechter
Publication Date: 2019-12-06

Variant appearance in text: CFTR: G551D
PMID: 31810394
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Nanomolar-potency 'co-potentiator' therapy for cystic fibrosis caused by a defined subset of minimal function CFTR mutants.

Scientific Reports
PW Phuan, JA Tan, AA Rivera, L Zlock, DW Nielson, WE Finkbeiner, PM Haggie, AS Verkman
Publication Date: 2019-11-27

Variant appearance in text: CFTR: G551D
PMID: 31776420
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Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele.

The New England Journal Of Medicine
PG Middleton, MA Mall, P Dřevínek, LC Lands, EF McKone, D Polineni, BW Ramsey, JL Taylor-Cousar, E Tullis, F Vermeulen, G Marigowda, CM McKee, SM Moskowitz, N Nair, J Savage, C Simard, S Tian, D Waltz, F Xuan, SM Rowe, R Jain,
Publication Date: 2019-11-07

Variant appearance in text: CFTR: Gly551Asp
PMID: 31697873
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Profile of tezacaftor/ivacaftor combination and its potential in the treatment of cystic fibrosis.

Therapeutics And Clinical Risk Management
D Shiferaw, S Faruqi
Publication Date: 2019

Variant appearance in text: CFTR: Gly551Asp
PMID: 31692517
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The Extra-pulmonary Effects of CFTR Modulators in Cystic Fibrosis.

Annals Of The American Thoracic Society
V Sergeev, FY Chou, GY Lam, CM Hamilton, PG Wilcox, BS Quon
Publication Date: 2019-10-29

Variant appearance in text: CFTR: G551D
PMID: 31661636
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A Perspective: Division of Lung Diseases at Fifty.

American Journal Of Respiratory And Critical Care Medicine
GG Weinmann, TL Croxton, NR Aggarwal, MJ Twery, JP Kiley,
Publication Date: 2019-12-15

Variant appearance in text: CFTR: G551D
PMID: 31657967
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Combination Therapy with Lumacaftor-Ivacaftor in CF: Keeping it Real.

American Journal Of Respiratory And Critical Care Medicine
MA Sala, M Jain
Publication Date: 2019-10-22

Variant appearance in text: CFTR: G551D
PMID: 31639314
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Role of ion channels in gastrointestinal cancer.

World Journal Of Gastroenterology
KJ Anderson, RT Cormier, PM Scott
Publication Date: 2019-10-14

Variant appearance in text: CFTR: G551D
PMID: 31636470
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Molecular and Microbial Microenvironments in Chronically Diseased Lungs Associated with Cystic Fibrosis.

Msystems
AV Melnik, Y Vázquez-Baeza, AA Aksenov, E Hyde, AC McAvoy, M Wang, RR da Silva, I Protsyuk, JV Wu, A Bouslimani, YW Lim, T Luzzatto-Knaan, W Comstock, RA Quinn, R Wong, G Humphrey, G Ackermann, T Spivey, SS Brouha, N Bandeira, GY Lin, F Rohwer, DJ Conrad, T Alexandrov, R Knight, PC Dorrestein, N Garg
Publication Date: 2019-09-24

Variant appearance in text: CFTR: G551D
PMID: 31551401
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ENaC-mediated sodium influx exacerbates NLRP3-dependent inflammation in cystic fibrosis.

Elife
T Scambler, HH Jarosz-Griffiths, S Lara-Reyna, S Pathak, C Wong, J Holbrook, F Martinon, S Savic, D Peckham, MF McDermott
Publication Date: 2019-09-18

Variant appearance in text: CFTR: G551D
PMID: 31532390
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VX-770-mediated potentiation of numerous human CFTR disease mutants is influenced by phosphorylation level.

Scientific Reports
G Cui, BB Stauffer, BR Imhoff, A Rab, JS Hong, EJ Sorscher, NA McCarty
Publication Date: 2019-09-17

Variant appearance in text: CFTR: G551D
PMID: 31530897
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Cystic Fibrosis Mutation Spectrum in North Macedonia: A Step Toward Personalized Therapy.

Balkan Journal Of Medical Genetics : Bjmg
M Terzic, M Jakimovska, S Fustik, T Jakovska, E Sukarova-Stefanovska, D Plaseska-Karanfilska
Publication Date: 2019-06

Variant appearance in text: CFTR: G551D
PMID: 31523618
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Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records.

Npj Genomic Medicine
JP Sugunaraj, HM Brosius, MF Murray, K Manickam, JA Stamm, DJ Carey, UL Mirshahi
Publication Date: 2019

Variant appearance in text: CFTR: G551D
PMID: 31508243
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Mendelian Gene Discovery: Fast and Furious with No End in Sight.

American Journal Of Human Genetics
MJ Bamshad, DA Nickerson, JX Chong
Publication Date: 2019-09-05

Variant appearance in text: CFTR: G551D
PMID: 31491408
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Mechanics and pharmacology of substrate selection and transport by eukaryotic ABC exporters.

Nature Structural & Molecular Biology
S Srikant, R Gaudet
Publication Date: 2019-09

Variant appearance in text: CFTR: G551D
PMID: 31451804
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Identification of a novel functional miR-143-5p recognition element in the Cystic Fibrosis Transmembrane Conductance Regulator 3'UTR.

Aims Genetics
C De Santi, S Gadi, A Swiatecka-Urban, CM Greene
Publication Date: 2018

Variant appearance in text: CFTR: G551D
PMID: 31435512
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Metabolic Reprograming of Cystic Fibrosis Macrophages via the IRE1α Arm of the Unfolded Protein Response Results in Exacerbated Inflammation.

Frontiers In Immunology
S Lara-Reyna, T Scambler, J Holbrook, C Wong, HH Jarosz-Griffiths, F Martinon, S Savic, D Peckham, MF McDermott
Publication Date: 2019

Variant appearance in text: CFTR: G551D
PMID: 31428093
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Lumacaftor-ivacaftor in the treatment of cystic fibrosis: design, development and place in therapy.

Drug Design, Development And Therapy
GJ Connett
Publication Date: 2019

Variant appearance in text: CFTR: G551D
PMID: 31409974
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Patient-reported outcomes in patients with cystic fibrosis with a G551D mutation on ivacaftor treatment: results from a cross-sectional study.

Bmc Pulmonary Medicine
SC Bell, JG Mainz, G MacGregor, S Madge, J Macey, M Fridman, ED Suthoff, S Narayanan, N Kinnman
Publication Date: 2019-08-13

Variant appearance in text: CFTR: G551D
PMID: 31409396
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Immunopathology of Airway Surface Liquid Dehydration Disease.

Journal Of Immunology Research
BW Lewis, S Patial, Y Saini
Publication Date: 2019

Variant appearance in text: CFTR: G551D
PMID: 31396541
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Image-based β-adrenergic sweat rate assay captures minimal cystic fibrosis transmembrane conductance regulator function.

Pediatric Research
DB Salinas, YH Peng, B Horwich, CP Wee, E Frisbee, JM Maarek
Publication Date: 2019-07-25

Variant appearance in text: CFTR: G551D
PMID: 31344706
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Exposure of Pseudomonas aeruginosa to bactericidal hypochlorous acid during neutrophil phagocytosis is compromised in cystic fibrosis.

The Journal Of Biological Chemistry
N Dickerhof, V Isles, P Pattemore, MB Hampton, AJ Kettle
Publication Date: 2019-09-06

Variant appearance in text: CFTR: G551D
PMID: 31341024
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Current Practices and Potential Nanotechnology Perspectives for Pain Related to Cystic Fibrosis.

Journal Of Clinical Medicine
LM Trandafir, MM Leon, O Frasinariu, G Baciu, G Dodi, E Cojocaru
Publication Date: 2019-07-12

Variant appearance in text: CFTR: G551D
PMID: 31336857
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Endothelial Dysfunction in Cystic Fibrosis: Role of Oxidative Stress.

Oxidative Medicine And Cellular Longevity
MA Tucker, BM Fox, N Seigler, P Rodriguez-Miguelez, J Looney, J Thomas, KT McKie, C Forseen, GW Davison, RA Harris
Publication Date: 2019

Variant appearance in text: CFTR: G551D
PMID: 31320980
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Assessing cell-specific effects of genetic variations using tRNA microarrays.

Bmc Genomics
C Polte, D Wedemeyer, KE Oliver, J Wagner, MJC Bijvelds, J Mahoney, HR de Jonge, EJ Sorscher, Z Ignatova
Publication Date: 2019-07-16

Variant appearance in text: CFTR: G551D
PMID: 31307398
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The effect of CFTR modulators on a cystic fibrosis patient presenting with recurrent pancreatitis in the absence of respiratory symptoms: a case report.

Bmc Gastroenterology
JD Johns, SM Rowe
Publication Date: 2019-07-11

Variant appearance in text: CFTR: G551D
PMID: 31296159
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Acute Recurrent and Chronic Pancreatitis as Initial Manifestations of Cystic Fibrosis and Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders.

Pancreas
C Baldwin, M Zerofsky, M Sathe, DM Troendle, ER Perito
Publication Date: 2019-08

Variant appearance in text: CFTR: G551D
PMID: 31268981
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Structural identification of a hotspot on CFTR for potentiation.

Science (New York, N.Y.)
F Liu, Z Zhang, A Levit, J Levring, KK Touhara, BK Shoichet, J Chen
Publication Date: 2019-06-21

Variant appearance in text: CFTR: G551D
PMID: 31221859
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Clinical development of triple-combination CFTR modulators for cystic fibrosis patients with one or two F508del alleles.

Erj Open Research
JL Taylor-Cousar, MA Mall, BW Ramsey, EF McKone, E Tullis, G Marigowda, CM McKee, D Waltz, SM Moskowitz, J Savage, F Xuan, SM Rowe
Publication Date: 2019-04

Variant appearance in text: CFTR: G551D
PMID: 31218221
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Potentiation of ABCA3 lipid transport function by ivacaftor and genistein.

Journal Of Cellular And Molecular Medicine
S Kinting, Y Li, M Forstner, F Delhommel, M Sattler, M Griese
Publication Date: 2019-08

Variant appearance in text: CFTR: G551D
PMID: 31210424
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Cystic fibrosis drug ivacaftor stimulates CFTR channels at picomolar concentrations.

Elife
L Csanády, B Töröcsik
Publication Date: 2019-06-17

Variant appearance in text: CFTR: G551D
PMID: 31205003
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Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population.

Molecular Genetics & Genomic Medicine
RDS Martins, M Campos Junior, A Dos Santos Moreira, V Marques Zembrzuski, ACP da Fonseca, GM Abreu, PH Cabello, GMK de Cabello
Publication Date: 2019-07

Variant appearance in text: CFTR: 1652G>A; Gly551Asp
PMID: 31199594
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Delivering on the promise of gene editing for cystic fibrosis.

Genes & Diseases
CA Hodges, RA Conlon
Publication Date: 2019-06

Variant appearance in text: CFTR: G551D
PMID: 31193992
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Cystic Fibrosis-Related Diabetes: Pathophysiology and Therapeutic Challenges.

Clinical Medicine Insights. Endocrinology And Diabetes
R Kelsey, FN Manderson Koivula, NH McClenaghan, C Kelly
Publication Date: 2019

Variant appearance in text: CFTR: G551D
PMID: 31191067
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Cystic fibrosis revisited.

Journal Of Postgraduate Medicine
H Kulkarni, S Kansra, S Karande
Publication Date: 2019

Variant appearance in text: CFTR: G551D
PMID: 31169132
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Identifying the molecular target sites for CFTR potentiators GLPG1837 and VX-770.

The Journal Of General Physiology
HI Yeh, L Qiu, Y Sohma, K Conrath, X Zou, TC Hwang
Publication Date: 2019-07-01

Variant appearance in text: CFTR: G551D
PMID: 31164398
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Identification of GLPG/ABBV-2737, a Novel Class of Corrector, Which Exerts Functional Synergy With Other CFTR Modulators.

Frontiers In Pharmacology
G de Wilde, M Gees, S Musch, K Verdonck, M Jans, AS Wesse, AK Singh, TC Hwang, T Christophe, M Pizzonero, S Van der Plas, N Desroy, M Cowart, P Stouten, L Nelles, K Conrath
Publication Date: 2019

Variant appearance in text: CFTR: G551D
PMID: 31143125
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Cystic Fibrosis and Pseudomonas aeruginosa: the Host-Microbe Interface.

Clinical Microbiology Reviews
S Malhotra, D Hayes, DJ Wozniak
Publication Date: 2019-06-19

Variant appearance in text: CFTR: G551D
PMID: 31142499
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Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka.

Bmc Medical Genetics
NLR Indika, DM Vidanapathirana, HW Dilanthi, GAM Kularatnam, NDPD Chandrasiri, E Jasinge
Publication Date: 2019-05-24

Variant appearance in text: CFTR: G551D
PMID: 31126253
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Cases in Precision Medicine: The Role of Pharmacogenetics in Precision Prescribing.

Annals Of Internal Medicine
B Lin, WK Chung
Publication Date: 2019-06-04

Variant appearance in text: CFTR: G551D; rs75527207
PMID: 31108507
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RNA Sequencing: A Potentiator of Discovery-based Research.

American Journal Of Respiratory Cell And Molecular Biology
M Alexander, PA Reyfman
Publication Date: 2019-11

Variant appearance in text: CFTR: G551D
PMID: 31091961
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High-Throughput Screening for Modulators of CFTR Activity Based on Genetically Engineered Cystic Fibrosis Disease-Specific iPSCs.

Stem Cell Reports
S Merkert, M Schubert, R Olmer, L Engels, S Radetzki, M Veltman, BJ Scholte, J Zöllner, N Pedemonte, LJV Galietta, JP von Kries, U Martin
Publication Date: 2019-06-11

Variant appearance in text: CFTR: Gly551Asp
PMID: 31080112
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A Systematic Review of the Clinical Efficacy and Safety of CFTR Modulators in Cystic Fibrosis.

Scientific Reports
AR Habib, M Kajbafzadeh, S Desai, CL Yang, K Skolnik, BS Quon
Publication Date: 2019-05-10

Variant appearance in text: CFTR: G551D
PMID: 31076617
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An open-label extension study of ivacaftor in children with CF and a CFTR gating mutation initiating treatment at age 2-5 years (KLIMB).

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
M Rosenfeld, S Cunningham, WT Harris, A Lapey, WE Regelmann, GS Sawicki, KW Southern, M Chilvers, M Higgins, S Tian, J Cooke, JC Davies,
Publication Date: 2019-11

Variant appearance in text: CFTR: G551D
PMID: 31053538
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000003084.6 c.1652G>A p.Gly551Asp missense_variant 12/27 -
ENST00000426809.1 c.1562G>A p.Gly521Asp missense_variant 11/26 -
ENST00000454343.1 c.1469G>A p.Gly490Asp missense_variant 11/26 -
NM_000492.4 c.1652G>A p.Gly551Asp missense_variant 12/27 -