Publications:

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Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis.

Frontiers In Pharmacology

Xie, Shuying S; Wei, Shizhang S; Ma, Xiao X; Wang, Ruilin R; He, Tingting T; Zhang, Zhao Z; Yang, Ju J; Wang, Jiawei J; Chang, Lei L; Jing, Manyi M; Li, Haotian H; Zhou, Xuelin X; Zhao, Yanling Y

Publication Date: 2023

Variant appearance in text: CFTR: G1349D

PubMed Link: 37324459

Variant Present in the following documents:

• Main text
• fphar-14-1173542.pdf

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Dry Powder Inhalation for Lung Delivery in Cystic Fibrosis.

Pharmaceutics

Han, Xiaoxuan X; Li, Danni D; Reyes-Ortega, Felisa F; Schneider-Futschik, Elena K EK

Publication Date: 2023-05-13

Variant appearance in text: CFTR: G1349D

PubMed Link: 37242730

Variant Present in the following documents:

• Main text
• pharmaceutics-15-01488.pdf

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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: 4046G>A; Gly1349Asp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: G1349D

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.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: G1349D

PubMed Link: 36631132

Variant Present in the following documents:

• Main text
• ERR-0154-2022.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: Gly1349Asp

PubMed Link: 36601503

Variant Present in the following documents:

• Main text
• main.pdf

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The Exocrine Pancreas in Cystic Fibrosis in the Era of CFTR Modulation: A Mini Review.

Frontiers In Pediatrics

McKay, Isabelle R IR; Ooi, Chee Y CY

Publication Date: 2022

Variant appearance in text: CFTR: G1349D

PubMed Link: 35832587

Variant Present in the following documents:

• Main text
• fped-10-914790.pdf

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One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies.

Cells

Ensinck, Marjolein M MM; Carlon, Marianne S MS

Publication Date: 2022-06-08

Variant appearance in text: CFTR: 4046G>A; G1349D

PubMed Link: 35740997

Variant Present in the following documents:

• Main text
• cells-11-01868.pdf

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CFTR Modulators in People with Cystic Fibrosis: Real-World Evidence in France.

Cells

Regard, Lucile L; Martin, Clémence C; Burnet, Espérie E; Da Silva, Jennifer J; Burgel, Pierre-Régis PR

Publication Date: 2022-05-28

Variant appearance in text: CFTR: G1349D

PubMed Link: 35681464

Variant Present in the following documents:

• cells-11-01769.pdf

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New drugs in cystic fibrosis: what has changed in the last decade?

Therapeutic Advances In Chronic Disease

Roda, Juliana J; Pinto-Silva, Catarina C; Silva, Iris A I IAI; Maia, Carla C; Almeida, Susana S; Ferreira, Ricardo R; Oliveira, Guiomar G

Publication Date: 2022

Variant appearance in text: CFTR: G1349D

PubMed Link: 35620188

Variant Present in the following documents:

• Main text
• 10.1177_20406223221098136.pdf

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CFTR Modulator Therapies: Potential Impact on Airway Infections in Cystic Fibrosis.

Cells

Saluzzo, Francesca F; Riberi, Luca L; Messore, Barbara B; Loré, Nicola Ivan NI; Esposito, Irene I; Bignamini, Elisabetta E; De Rose, Virginia V

Publication Date: 2022-04-06

Variant appearance in text: CFTR: G1349D

PubMed Link: 35406809

Variant Present in the following documents:

• cells-11-01243.pdf

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Pathophysiology of Lung Disease and Wound Repair in Cystic Fibrosis.

Pathophysiology : The Official Journal Of The International Society For Pathophysiology

Conese, Massimo M; Di Gioia, Sante S

Publication Date: 2021-03-10

Variant appearance in text: CFTR: G1349D

PubMed Link: 35366275

Variant Present in the following documents:

• pathophysiology-28-00011.pdf

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

Jci Insight

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

Publication Date: 2022-03-22

Variant appearance in text: CFTR: G1349D

PubMed Link: 35315358

Variant Present in the following documents:

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

View BVdb publication page

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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: G1349D

PubMed Link: 35153502

Variant Present in the following documents:

• Main text
• pgpm-15-91.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: G1349D

PubMed Link: 35035569

Variant Present in the following documents:

• Main text
• EDU-0112-2021.pdf

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Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine.

Journal Of Clinical Medicine

Butnariu, Lăcrămioara Ionela LI; Țarcă, Elena E; Cojocaru, Elena E; Rusu, Cristina C; Moisă, Ștefana Maria ȘM; Leon Constantin, Maria-Magdalena MM; Gorduza, Eusebiu Vlad EV; Trandafir, Laura Mihaela LM

Publication Date: 2021-12-13

Variant appearance in text: CFTR: G1349D

PubMed Link: 34945117

Variant Present in the following documents:

• Main text
• jcm-10-05821.pdf

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Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine.

Journal Of Clinical Medicine

Butnariu, Lăcrămioara Ionela LI; Țarcă, Elena E; Cojocaru, Elena E; Rusu, Cristina C; Moisă, Ștefana Maria ȘM; Leon Constantin, Maria-Magdalena MM; Gorduza, Eusebiu Vlad EV; Trandafir, Laura Mihaela LM

Publication Date: 2021-12-13

Variant appearance in text: CFTR: G1349D

PubMed Link: 34945117

Variant Present in the following documents:

• Main text
• jcm-10-05821.pdf

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A Comparative Analysis of Pricing and Reimbursement of Cystic Fibrosis Transmembrane Conductance Regulator Modulators in Europe.

Frontiers In Pharmacology

Abdallah, Khadidja K; De Boeck, Kris K; Dooms, Marc M; Simoens, Steven S

Publication Date: 2021

Variant appearance in text: CFTR: G1349D

PubMed Link: 34858177

Variant Present in the following documents:

• fphar-12-746710.pdf

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Comprehensive Analysis of Combinatorial Pharmacological Treatments to Correct Nonsense Mutations in the CFTR Gene.

International Journal Of Molecular Sciences

Venturini, Arianna A; Borrelli, Anna A; Musante, Ilaria I; Scudieri, Paolo P; Capurro, Valeria V; Renda, Mario M; Pedemonte, Nicoletta N; Galietta, Luis J V LJV

Publication Date: 2021-11-04

Variant appearance in text: CFTR: G1349D

PubMed Link: 34769402

Variant Present in the following documents:

• Main text
• ijms-22-11972.pdf

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The determinants of survival among adults with cystic fibrosis-a cohort study.

Journal Of Physiological Anthropology

Durda-Masny, Magdalena M; Goździk-Spychalska, Joanna J; John, Aleksandra A; Czaiński, Wojciech W; Stróżewska, Weronika W; Pawłowska, Natalia N; Wlizło, Jolanta J; Batura-Gabryel, Halina H; Szwed, Anita A

Publication Date: 2021-11-08

Variant appearance in text: CFTR: G1349D

PubMed Link: 34749804

Variant Present in the following documents:

• Main text

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Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics

Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W

Publication Date: 2021-11-05

Variant appearance in text: rs193922525

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

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A small molecule CFTR potentiator restores ATP-dependent channel gating to the cystic fibrosis mutant G551D-CFTR.

British Journal Of Pharmacology

Liu, Jia J; Berg, Allison P AP; Wang, Yiting Y; Jantarajit, Walailak W; Sutcliffe, Katy J KJ; Stevens, Edward B EB; Cao, Lishuang L; Pregel, Marko J MJ; Sheppard, David N DN

Publication Date: 2022-04

Variant appearance in text: CFTR: G1349D

PubMed Link: 34644413

Variant Present in the following documents:

• BPH-179-1319.pdf

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State of the Art on Approved Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators and Triple-Combination Therapy.

Pharmaceuticals (Basel, Switzerland)

Meoli, Aniello A; Fainardi, Valentina V; Deolmi, Michela M; Chiopris, Giulia G; Marinelli, Francesca F; Caminiti, Caterina C; Esposito, Susanna S; Pisi, Giovanna G

Publication Date: 2021-09-15

Variant appearance in text: CFTR: G1349D

PubMed Link: 34577628

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00928.pdf

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Two Years of Newborn Screening for Cystic Fibrosis in North Macedonia: First Experience.

Balkan Journal Of Medical Genetics : Bjmg

Fustik, S S; Anastasovska, V V; Plaseska-Karanfilska, D D; Stamatova, A A; Spirevska, L L; Pesevska, M M; Terzikj, M M; Vujovic, M M

Publication Date: 2021-06

Variant appearance in text: CFTR: 4046G>A; G1349D

PubMed Link: 34447658

Variant Present in the following documents:

• Main text
• bjmg-24-041.pdf

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Anti-Inflammatory Influences of Cystic Fibrosis Transmembrane Conductance Regulator Drugs on Lung Inflammation in Cystic Fibrosis.

International Journal Of Molecular Sciences

Harwood, Kiera H KH; McQuade, Rachel M RM; Jarnicki, Andrew A; Schneider-Futschik, Elena K EK

Publication Date: 2021-07-16

Variant appearance in text: CFTR: G1349D

PubMed Link: 34299226

Variant Present in the following documents:

• Main text
• ijms-22-07606.pdf

View BVdb publication page

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Cystic Fibrosis Human Organs-on-a-Chip.

Micromachines

Ogden, Herbert Luke HL; Kim, Hoyeol H; Wikenheiser-Brokamp, Kathryn A KA; Naren, Anjaparavanda P AP; Mun, Kyu Shik KS

Publication Date: 2021-06-25

Variant appearance in text: CFTR: G1349D

PubMed Link: 34202364

Variant Present in the following documents:

• Main text
• micromachines-12-00747.pdf

View BVdb publication page

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New Therapies to Correct the Cystic Fibrosis Basic Defect.

International Journal Of Molecular Sciences

Bergeron, Christelle C; Cantin, André M AM

Publication Date: 2021-06-08

Variant appearance in text: CFTR: G1349D

PubMed Link: 34201249

Variant Present in the following documents:

• Main text

View BVdb publication page

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Real-World Long-Term Ivacaftor for Cystic Fibrosis in France: Clinical Effectiveness and Healthcare Resource Utilization.

Pulmonary Therapy

Hubert, Dominique D; Marguet, Christophe C; Benichou, Jacques J; DeSouza, Cynthia C; Payen-Champenois, Catherine C; Kinnman, Nils N; Chandarana, Keval K; Munck, Anne A; Fajac, Isabelle I; ,

Publication Date: 2021-12

Variant appearance in text: CFTR: G1349D

PubMed Link: 34101145

Variant Present in the following documents:

• Main text
• 41030_2021_Article_158.pdf

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Cystic Fibrosis Lung Disease Modifiers and Their Relevance in the New Era of Precision Medicine.

Genes

Sepahzad, Afsoon A; Morris-Rosendahl, Deborah J DJ; Davies, Jane C JC

Publication Date: 2021-04-13

Variant appearance in text: CFTR: G1349D

PubMed Link: 33924524

Variant Present in the following documents:

• Main text

View BVdb publication page

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Treatment of Pulmonary Disease of Cystic Fibrosis: A Comprehensive Review.

Antibiotics (Basel, Switzerland)

Girón Moreno, Rosa María RM; García-Clemente, Marta M; Diab-Cáceres, Layla L; Martínez-Vergara, Adrián A; Martínez-García, Miguel Ángel MÁ; Gómez-Punter, Rosa Mar RM

Publication Date: 2021-04-23

Variant appearance in text: CFTR: G1349D

PubMed Link: 33922413

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of Potential Leukocyte Biomarkers Related to Drug Recovery of CFTR: Clinical Applications in Cystic Fibrosis.

International Journal Of Molecular Sciences

Pedrazzi, Marco M; Vercellone, Silvia S; Barberis, Elettra E; Capraro, Michela M; De Tullio, Roberta R; Cresta, Federico F; Casciaro, Rosaria R; Castellani, Carlo C; Patrone, Mauro M; Marengo, Emilio E; Lecca, Paola P; Melotti, Paola P; Sorio, Claudio C; Manfredi, Marcello M; Averna, Monica M

Publication Date: 2021-04-10

Variant appearance in text: CFTR: G1349D

PubMed Link: 33920274

Variant Present in the following documents:

• Main text

View BVdb publication page

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Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics

Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY

Publication Date: 2021-02

Variant appearance in text: CFTR: 4046G>A; rs193922525

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s003.xlsx, sheet 1

View BVdb publication page

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New Therapeutic Approaches in Cystic Fibrosis.

Turkish Journal Of Pharmaceutical Sciences

Fakıoğlu, Dolunay Merve DM; Altun, Beril B

Publication Date: 2020-12-23

Variant appearance in text: CFTR: G1349D

PubMed Link: 33389985

Variant Present in the following documents:

• Main text

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Corrector therapies (with or without potentiators) for people with cystic fibrosis with class II CFTR gene variants (most commonly F508del).

The Cochrane Database Of Systematic Reviews

Southern, Kevin W KW; Murphy, Jared J; Sinha, Ian P IP; Nevitt, Sarah J SJ

Publication Date: 2020-12-17

Variant appearance in text: CFTR: G1349D

PubMed Link: 33331662

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel therapeutic approaches for the management of cystic fibrosis.

Multidisciplinary Respiratory Medicine

Jaques, Ryan R; Shakeel, Arslan A; Hoyle, Cameron C

Publication Date: 2020-01-28

Variant appearance in text: CFTR: G1349D

PubMed Link: 33282281

Variant Present in the following documents:

• Main text
• mrm-15-1-690.pdf

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G970R-CFTR Mutation (c.2908G>C) Results Predominantly in a Splicing Defect.

Clinical And Translational Science

Fidler, Meredith C MC; Buckley, Alexandra A; Sullivan, James C JC; Statia, Marvin M; Boj, Sylvia F SF; Vries, Robert G J RGJ; Munck, Anne A; Higgins, Mark M; Moretto Zita, Matteo M; Negulescu, Paul P; van Goor, Fredrick F; De Boeck, Kris K

Publication Date: 2021-03

Variant appearance in text: CFTR: G1349D

PubMed Link: 33278322

Variant Present in the following documents:

• Main text

View BVdb publication page

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Current Treatment Options for Cystic Fibrosis-Related Liver Disease.

International Journal Of Molecular Sciences

Staufer, Katharina K

Publication Date: 2020-11-14

Variant appearance in text: CFTR: G1349D

PubMed Link: 33202578

Variant Present in the following documents:

• Main text
• ijms-21-08586.pdf

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Ivacaftor in Infants Aged 4 to <12 Months with Cystic Fibrosis and a Gating Mutation. Results of a Two-Part Phase 3 Clinical Trial.

American Journal Of Respiratory And Critical Care Medicine

Davies, Jane C JC; Wainwright, Claire E CE; Sawicki, Gregory S GS; Higgins, Mark N MN; Campbell, Daniel D; Harris, Christopher C; Panorchan, Paul P; Haseltine, Eric E; Tian, Simon S; Rosenfeld, Margaret M

Publication Date: 2021-03-01

Variant appearance in text: CFTR: G1349D

PubMed Link: 33023304

Variant Present in the following documents:

• Main text

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Fluorescence assay for simultaneous quantification of CFTR ion-channel function and plasma membrane proximity.

The Journal Of Biological Chemistry

Prins, Stella S; Langron, Emily E; Hastings, Cato C; Hill, Emily J EJ; Stefan, Andra C AC; Griffin, Lewis D LD; Vergani, Paola P

Publication Date: 2020-12-04

Variant appearance in text: CFTR: G1349D

PubMed Link: 32934006

Variant Present in the following documents:

• mmc1.pdf

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Pharmacogenetics: An Important Part of Drug Development with A Focus on Its Application.

International Journal Of Biomedical Investigation

Oates, J T JT; Lopez, D D

Publication Date: 2018

Variant appearance in text: CFTR: G1349D

PubMed Link: 32467882

Variant Present in the following documents:

• Main text
• nihms-1581346.pdf

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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

Strub, Matthew D MD; McCray, Paul B PB

Publication Date: 2020-05-13

Variant appearance in text: CFTR: G1349D

PubMed Link: 32414011

Variant Present in the following documents:

• Main text

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.

Emc. Pediatria

Noël, S S; Sermet-Gaudelus, I I

Publication Date: 2020-03

Variant appearance in text: CFTR: G1349D

PubMed Link: 32288518

Variant Present in the following documents:

• main.pdf

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Emerging Cystic Fibrosis Transmembrane Conductance Regulator Modulators as New Drugs for Cystic Fibrosis: A Portrait of in Vitro Pharmacology and Clinical Translation.

Acs Pharmacology & Translational Science

Ghelani, Drishti P DP; Schneider-Futschik, Elena K EK

Publication Date: 2020-02-14

Variant appearance in text: CFTR: G1349D

PubMed Link: 32259083

Variant Present in the following documents:

• Main text

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Abstracts from the 25th Italian Congress of Cystic Fibrosis and the 15th National Congress of Cystic Fibrosis Italian Society : Assago, Milan. 10 - 12 October 2019.

Italian Journal Of Pediatrics

Publication Date: 2020-04-01

Variant appearance in text: CFTR: G1349D

PubMed Link: 32234058

Variant Present in the following documents:

• Main text

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CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine.

Frontiers In Pharmacology

Lopes-Pacheco, Miquéias M

Publication Date: 2019

Variant appearance in text: CFTR: G1349D

PubMed Link: 32153386

Variant Present in the following documents:

• Main text

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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

Marson, Fernando Augusto Lima FAL

Publication Date: 2020-03-02

Variant appearance in text: CFTR: G1349D

PubMed Link: 32130336

Variant Present in the following documents:

• Main text
• 1806-3713-jbpneu-46-02-e20190308.pdf

View BVdb publication page

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Pediatric Orphan Drug Indications: 2010-2018.

Pediatrics

Kimmel, Lauren L; Conti, Rena M RM; Volerman, Anna A; Chua, Kao-Ping KP

Publication Date: 2020-04

Variant appearance in text: CFTR: G1349D

PubMed Link: 32127360

Variant Present in the following documents:

• Main text

View BVdb publication page

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