Publications:

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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