Publications:

Q1291H-CFTR molecular dynamics simulations and ex vivo theratyping in nasal epithelial models and clinical response to elexacaftor/tezacaftor/ivacaftor in a Q1291H/F508del patient.

Frontiers In Molecular Biosciences

Allan, Katelin M KM; Astore, Miro A MA; Kardia, Egi E; Wong, Sharon L SL; Fawcett, Laura K LK; Bell, Jessica L JL; Visser, Simone S; Chen, Po-Chia PC; Griffith, Renate R; Jaffe, Adam A; Sivam, Sheila S; Vittorio, Orazio O; Kuyucak, Serdar S; Waters, Shafagh A SA

Publication Date: 2023

Variant appearance in text: CFTR: Q1291A

PubMed Link: 37325471

Variant Present in the following documents:

• Main text
• fmolb-10-1148501.pdf

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Mutating the Conserved Q-loop Glutamine 1291 Selectively Disrupts Adenylate Kinase-dependent Channel Gating of the ATP-binding Cassette (ABC) Adenylate Kinase Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) and Reduces Channel Function in Primary Human Airway Epithelia.

The Journal Of Biological Chemistry

Dong, Qian Q; Ernst, Sarah E SE; Ostedgaard, Lynda S LS; Shah, Viral S VS; Ver Heul, Amanda R AR; Welsh, Michael J MJ; Randak, Christoph O CO

Publication Date: 2015-05-29

Variant appearance in text: CFTR: Q1291A

PubMed Link: 25887396

Variant Present in the following documents:

• Main text
• zbc14140.pdf

View BVdb publication page