(Q39022011)

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Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention.

scientific article published on 20 February 2014

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scholarly article

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8 March 2020

Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention (English)

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8 March 2020

Steven Molinski

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8 March 2020

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8 March 2020

Ibrahim A Janahi

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8 March 2020

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Ling Jun Huan

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8 March 2020

Berivan Baskin

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8 March 2020

Peter N Ray

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8 March 2020

Christine E Bear

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8 March 2020

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20 February 2014

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8 March 2020

Genetics in Medicine

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8 March 2020

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8 March 2020

625-632

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8 March 2020

https://scigraph.springernature.com/pub.10.1038/gim.2014.4

0 references

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

1 reference

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21 January 2018

The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).

1 reference

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21 January 2018

Update in cystic fibrosis 2008.

1 reference

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21 January 2018

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

1 reference

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21 January 2018

Efficacy and safety of ivacaftor in patients aged 6 to 11 years with cystic fibrosis with a G551D mutation

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

21 January 2018

Ivacaftor treatment of cystic fibrosis patients with the G551D mutation: a review of the evidence

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

21 January 2018

The cystic fibrosis mutation G551D alters the non-Michaelis-Menten behavior of the cystic fibrosis transmembrane conductance regulator (CFTR) channel and abolishes the inhibitory Genistein binding site.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

21 January 2018

G551D and G1349D, two CF-associated mutations in the signature sequences of CFTR, exhibit distinct gating defects

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

21 January 2018

Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

21 January 2018

Mechanism-based corrector combination restores ΔF508-CFTR folding and function

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

21 January 2018

Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

21 January 2018

VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

21 January 2018

Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

21 January 2018

Type II Gaucher disease: compound heterozygote with RecNciI and L444P mutations

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

21 January 2018

β-adrenergic sweat secretion as a diagnostic test for cystic fibrosis.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

21 January 2018

Domain interdependence in the biosynthetic assembly of CFTR.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

21 January 2018

Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report

1 reference

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21 January 2018

Prediction of beta-turns

1 reference

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21 January 2018

Genetic modifiers of cystic fibrosis-related diabetes

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

21 January 2018

Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

21 January 2018

Directed differentiation of human pluripotent stem cells into mature airway epithelia expressing functional CFTR protein

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

21 January 2018

A CFTR potentiator in patients with cystic fibrosis and the G551D mutation

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

21 January 2018

Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

21 January 2018

Cystic fibrosis transmembrane conductance regulator (CFTR) potentiator VX-770 (ivacaftor) opens the defective channel gate of mutant CFTR in a phosphorylation-dependent but ATP-independent manner

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

21 January 2018

Vx-770 potentiates CFTR function by promoting decoupling between the gating cycle and ATP hydrolysis cycle

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

21 January 2018

The DeltaF508 cystic fibrosis mutation impairs domain-domain interactions and arrests post-translational folding of CFTR.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

21 January 2018

Defective epithelial chloride transport in a gene-targeted mouse model of cystic fibrosis

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

ATP hydrolysis by a CFTR domain: pharmacology and effects of G551D mutation

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

7 January 2021

based on heuristic

inferred from DOI database lookup

Variable levels of normal RNA in different fetal organs carrying a cystic fibrosis transmembrane conductance regulator splicing mutation

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2014.4

7 January 2021

based on heuristic

inferred from DOI database lookup

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