Associated Papers
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
38515211 (PubMed )
Supplement: 13073_2024_1316_MOESM1_ESM.xlsx › Table_S1A
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2
Cystic Fibrosis in the African Diaspora.
Stewart C et al.
Annals of the American Thoracic Society, 2017
Cytoskeleton and CFTR.
Edelman A
The International Journal of Biochemistry & Cell Biology, 2014
Cystic fibrosis transmembrane conductance regulator interacts with multiple immunoglobulin domains of filamin A.
Playford MP et al.
The Journal of Biological Chemistry, 2010
Biochemical basis of the interaction between cystic fibrosis transmembrane conductance regulator and immunoglobulin-like repeats of filamin.
Smith L et al.
The Journal of Biological Chemistry, 2010
Direct interaction with filamins modulates the stability and plasma membrane expression of CFTR.
Thelin WR et al.
The Journal of Clinical Investigation, 2007
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Chen JM et al.
Molecular Biology and Evolution, 2001
Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%.
Macek M et al.
American Journal of Human Genetics, 1997
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