Decreased mRNA and protein stability of W1282X limits response to modulator therapy-Reference-Cited by-同舟云学术

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Decreased mRNA and protein stability of W1282X limits response to modulator therapy

Published:2019-09 Issue:5 Volume:18 Page:606-613
ISSN:1569-1993
Container-title:Journal of Cystic Fibrosis
language:en
Short-container-title:Journal of Cystic Fibrosis

Author:

Aksit M.A.,Bowling A.D.,Evans T.A.,Joynt A.T.,Osorio D.,Patel S.,West N.,Merlo C.,Sosnay P.R.,Cutting G.R.,Sharma N.^ORCID

Funder

CF Foundation Therapeutic grant (CFFT)

CF Research Scholar Program (Gilead Sciences)

CF Foundation Cuttin13A1

Cuttin16IO

U Penn Million Dollar Bike Ride

Publisher

Elsevier BV

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology, and Child Health

Reference45 articles.

1. Cystic fibrosis genetics: from molecular understanding to clinical application;Cutting;Nat Rev Genet,2015

2. Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators;Han;JCI Insight,2018

3. Lumacaftor-Ivacaftor in patients with cystic fibrosis homozygous for Phe508del CFTR;Wainwright;N Engl J Med,2015

4. Tezacaftor-Ivacaftor in patients with cystic fibrosis homozygous for Phe508del;Taylor-Cousar;N Engl J Med,2017

5. Tezacaftor-Ivacaftor in residual-function heterozygotes with cystic fibrosis;Rowe;N Engl J Med,2017

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1. Racial inequities and rare CFTR variants: Impact on cystic fibrosis diagnosis and treatment;Journal of Clinical & Translational Endocrinology;2024-06

2. Functional Consequences of CFTR Interactions in Cystic Fibrosis;International Journal of Molecular Sciences;2024-03-16

3. Small molecule modulators of cystic fibrosis transmembrane conductance regulator (CFTR): Structure, classification, and mechanisms;European Journal of Medicinal Chemistry;2024-02

4. L1077P CFTR pathogenic variant function rescue by Elexacaftor–Tezacaftor–Ivacaftor in cystic fibrosis patient-derived air–liquid interface (ALI) cultures and organoids: in vitro guided personalized therapy of non-F508del patients;Respiratory Research;2023-09-06

5. Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells;Molecular Therapy - Nucleic Acids;2023-09

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