Publications:

Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Iscience

Wong, Sharon L SL; Awatade, Nikhil T NT; Astore, Miro A MA; Allan, Katelin M KM; Carnell, Michael J MJ; Slapetova, Iveta I; Chen, Po-Chia PC; Capraro, Alexander A; Fawcett, Laura K LK; Whan, Renee M RM; Griffith, Renate R; Ooi, Chee Y CY; Kuyucak, Serdar S; Jaffe, Adam A; Waters, Shafagh A SA

Publication Date: 2022-01-21

Variant appearance in text: CFTR: 24G>A

PubMed Link: 35072004

Variant Present in the following documents:

• mmc2.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: rs1800071

PubMed Link: 34541464

Variant Present in the following documents:

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

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Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.

Cellular & Molecular Biology Letters

Bartoszewski, Rafal R; Króliczewski, Jaroslaw J; Piotrowski, Arkadiusz A; Jasiecka, Anna Janaszak AJ; Bartoszewska, Sylwia S; Vecchio-Pagan, Briana B; Fu, Lianwu L; Sobolewska, Aleksandra A; Matalon, Sadis S; Cutting, Garry R GR; Rowe, Steven M SM; Collawn, James F JF

Publication Date: 2016

Variant appearance in text: rs1800071

PubMed Link: 28536625

Variant Present in the following documents:

• 11658_2016_25_MOESM3_ESM.xlsx, sheet 1
• 11658_2016_25_MOESM2_ESM.xlsx, sheet 1
• 11658_2016_25_MOESM6_ESM.xlsx, sheet 1

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A novel treatment of cystic fibrosis acting on-target: cysteamine plus epigallocatechin gallate for the autophagy-dependent rescue of class II-mutated CFTR.

Cell Death And Differentiation

Tosco, A A; De Gregorio, F F; Esposito, S S; De Stefano, D D; Sana, I I; Ferrari, E E; Sepe, A A; Salvadori, L L; Buonpensiero, P P; Di Pasqua, A A; Grassia, R R; Leone, C A CA; Guido, S S; De Rosa, G G; Lusa, S S; Bona, G G; Stoll, G G; Maiuri, M C MC; Mehta, A A; Kroemer, G G; Maiuri, L L; Raia, V V

Publication Date: 2016-08

Variant appearance in text: CFTR: k8=

PubMed Link: 27035618

Variant Present in the following documents:

• cdd201622x3.pdf

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