Publications:

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Genetic and Serum Screening for Alpha-1-Antitrypsin Deficiency in Adult Patients with Cystic Fibrosis: A Single-Center Experience.

Biomedicines

Amati, Francesco F; Gramegna, Andrea A; Contarini, Martina M; Stainer, Anna A; Curcio, Cristina C; Aliberti, Stefano S; Corsico, Angelo Guido AG; Blasi, Francesco F

Publication Date: 2022-12-14

Variant appearance in text: CFTR: F508S

PubMed Link: 36552004

Variant Present in the following documents:

• biomedicines-10-03248.pdf

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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: rs74571530

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs74571530

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

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Recent Strategic Advances in CFTR Drug Discovery: An Overview.

International Journal Of Molecular Sciences

Rusnati, Marco M; D'Ursi, Pasqualina P; Pedemonte, Nicoletta N; Urbinati, Chiara C; Ford, Robert C RC; Cichero, Elena E; Uggeri, Matteo M; Orro, Alessandro A; Fossa, Paola P

Publication Date: 2020-03-31

Variant appearance in text: CFTR: F508S

PubMed Link: 32244346

Variant Present in the following documents:

• Main text
• ijms-21-02407.pdf

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VX-770-mediated potentiation of numerous human CFTR disease mutants is influenced by phosphorylation level.

Scientific Reports

Cui, Guiying G; Stauffer, Brandon B BB; Imhoff, Barry R BR; Rab, Andras A; Hong, Jeong S JS; Sorscher, Eric J EJ; McCarty, Nael A NA

Publication Date: 2019-09-17

Variant appearance in text: CFTR: F508S

PubMed Link: 31530897

Variant Present in the following documents:

• Main text
• 41598_2019_Article_49921.pdf

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DROIDS 1.20: A GUI-Based Pipeline for GPU-Accelerated Comparative Protein Dynamics.

Biophysical Journal

Babbitt, Gregory A GA; Mortensen, Jamie S JS; Coppola, Erin E EE; Adams, Lily E LE; Liao, Justin K JK

Publication Date: 2018-03-13

Variant appearance in text: CFTR: F508S

PubMed Link: 29539389

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs74571530

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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Asymmetry of movements in CFTR's two ATP sites during pore opening serves their distinct functions.

Elife

Sorum, Ben B; Töröcsik, Beáta B; Csanády, László L

Publication Date: 2017-09-25

Variant appearance in text: CFTR: F508S

PubMed Link: 28944753

Variant Present in the following documents:

• Main text

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∆F508 CFTR interactome remodelling promotes rescue of cystic fibrosis.

Nature

Pankow, Sandra S; Bamberger, Casimir C; Calzolari, Diego D; Martínez-Bartolomé, Salvador S; Lavallée-Adam, Mathieu M; Balch, William E WE; Yates, John R JR

Publication Date: 2015-12-24

Variant appearance in text: CFTR: F508S

PubMed Link: 26618866

Variant Present in the following documents:

• Main text
• nihms723235.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: F508S

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: F508S

PubMed Link: 20667826

Variant Present in the following documents:

• Main text

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Diminished self-chaperoning activity of the DeltaF508 mutant of CFTR results in protein misfolding.

Plos Computational Biology

Serohijos, Adrian W R AW; Hegedus, Tamás T; Riordan, John R JR; Dokholyan, Nikolay V NV

Publication Date: 2008-02-29

Variant appearance in text: CFTR: F508s

PubMed Link: 18463704

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: F508S

PubMed Link: 15619636

Variant Present in the following documents:

• Main text

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