Associated Papers
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
41330381 (PubMed )
Supplement: mmc3.xlsx › Sheet1
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39677473 (PubMed )
Supplement: media-1.xlsx › ST3
Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population.
Meneses DG et al.
Bmc Pediatrics, 2024
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
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
36834620 (PubMed )
Supplement: ijms-24-03211-s001.zip › ijms-2071953-supplementary.pdf
Pharmacological chaperones improve intra-domain stability and inter-domain assembly via distinct binding sites to rescue misfolded CFTR.
Baatallah N et al.
Cellular and Molecular Life Sciences : Cmls, 2021
K162E - A rare and uncategorized CFTR variant causing cystic fibrosis.
Souza EL et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2021
Description of rare mutations and a novel variant in Brazilian patients with Cystic Fibrosis: a case series from a referral center in the Bahia State.
Mota LR et al.
Molecular Biology Reports, 2018
Cystic fibrosis: Identification and frequency of mutations in a mixed population from a low-income region in Northeastern Brazil.
Mota LR et al.
Pediatric Pulmonology, 2018
Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.
Salinas DB et al.
Plos One, 2016
Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals.
Kanavakis E et al.
Clinical Genetics, 2003
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
[The ΔF508 mutation in cystic fibrosis patients].
Arngrimsson R et al.
Laeknabladid, 1994
Select a paper to view details