Publications:

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Mutation-specific reporter for optimization and enrichment of prime editing.

Nature Communications

Schene, I F IF; Joore, I P IP; Baijens, J H L JHL; Stevelink, R R; Kok, G G; Shehata, S S; Ilcken, E F EF; Nieuwenhuis, E C M ECM; Bolhuis, D P DP; van Rees, R C M RCM; Spelier, S A SA; van der Doef, H P J HPJ; Beekman, J M JM; Houwen, R H J RHJ; Nieuwenhuis, E E S EES; Fuchs, S A SA

Publication Date: 2022-03-01

Variant appearance in text: CFTR: F508d

PubMed Link: 35232966

Variant Present in the following documents:

• 41467_2022_28656_MOESM1_ESM.pdf

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Disease-related blood-based differential methylation in cystic fibrosis and its representation in lung cancer revealed a regulatory locus in PKP3 in lung epithelial cells.

Epigenetics

Schamschula, Esther E; Lahnsteiner, Angelika A; Assenov, Yassen Y; Hagmann, Wolfgang W; Zaborsky, Nadja N; Wiederstein, Markus M; Strobl, Anna A; Stanke, Frauke F; Muley, Thomas T; Plass, Christoph C; Tümmler, Burkhard B; Risch, Angela A

Publication Date: 2022-08

Variant appearance in text: CFTR: F508d

PubMed Link: 34415821

Variant Present in the following documents:

• Main text
• KEPI_17_1959976.pdf

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Profile of tezacaftor/ivacaftor combination and its potential in the treatment of cystic fibrosis.

Therapeutics And Clinical Risk Management

Shiferaw, Dejene D; Faruqi, Shoaib S

Publication Date: 2019

Variant appearance in text: CFTR: F508D

PubMed Link: 31692517

Variant Present in the following documents:

• tcrm-15-1029.pdf

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Cystic fibrosis-related diabetes: optimizing care with a multidisciplinary approach.

Diabetes, Metabolic Syndrome And Obesity : Targets And Therapy

Frost, Freddy F; Dyce, Paula P; Ochota, Alicja A; Pandya, Sejal S; Clarke, Thomas T; Walshaw, Martin J MJ; Nazareth, Dilip S DS

Publication Date: 2019

Variant appearance in text: CFTR: F508D

PubMed Link: 31118718

Variant Present in the following documents:

• Main text
• dmso-12-545.pdf

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High-Content Surface and Total Expression siRNA Kinase Library Screen with VX-809 Treatment Reveals Kinase Targets that Enhance F508del-CFTR Rescue.

Molecular Pharmaceutics

Perkins, Lydia A LA; Fisher, Gregory W GW; Naganbabu, Matharishwan M; Schmidt, Brigitte F BF; Mun, Frederick F; Bruchez, Marcel P MP

Publication Date: 2018-03-05

Variant appearance in text: CFTR: F508d

PubMed Link: 29384380

Variant Present in the following documents:

• mp7b00928_si_001.pdf

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Structure-activity relationship study reveals ML240 and ML241 as potent and selective inhibitors of p97 ATPase.

Chemmedchem

Chou, Tsui-Fen TF; Li, Kelin K; Frankowski, Kevin J KJ; Schoenen, Frank J FJ; Deshaies, Raymond J RJ

Publication Date: 2013-02

Variant appearance in text: CFTR: F508D

PubMed Link: 23316025

Variant Present in the following documents:

• cmdc0008-0297.pdf

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Correction of both NBD1 energetics and domain interface is required to restore ΔF508 CFTR folding and function.

Cell

Rabeh, Wael M WM; Bossard, Florian F; Xu, Haijin H; Okiyoneda, Tsukasa T; Bagdany, Miklos M; Mulvihill, Cory M CM; Du, Kai K; di Bernardo, Salvatore S; Liu, Yuhong Y; Konermann, Lars L; Roldan, Ariel A; Lukacs, Gergely L GL

Publication Date: 2012-01-20

Variant appearance in text: CFTR: F508D

PubMed Link: 22265408

Variant Present in the following documents:

• Main text

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The cystic fibrosis-causing mutation deltaF508 affects multiple steps in cystic fibrosis transmembrane conductance regulator biogenesis.

The Journal Of Biological Chemistry

Thibodeau, Patrick H PH; Richardson, John M JM; Wang, Wei W; Millen, Linda L; Watson, Jarod J; Mendoza, Juan L JL; Du, Kai K; Fischman, Sharon S; Senderowitz, Hanoch H; Lukacs, Gergely L GL; Kirk, Kevin K; Thomas, Philip J PJ

Publication Date: 2010-11-12

Variant appearance in text: CFTR: F508D

PubMed Link: 20667826

Variant Present in the following documents:

• Main text

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Side chain and backbone contributions of Phe508 to CFTR folding.

Nature Structural & Molecular Biology

Thibodeau, Patrick H PH; Brautigam, Chad A CA; Machius, Mischa M; Thomas, Philip J PJ

Publication Date: 2005-01

Variant appearance in text: CFTR: F508D

PubMed Link: 15619636

Variant Present in the following documents:

• Main text

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Genetic polymorphism and American Indian health.

The Western Journal Of Medicine

Long, Jeffrey C JC; Lorenz, Joseph G JG

Publication Date: 2002-05

Variant appearance in text: CFTR: F508D

PubMed Link: 12016249

Variant Present in the following documents:

• Main text

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