Cystic fibrosis: A worldwide analysis of CFTR mutations—correlation with incidence data and application to screening

By J. Bobadilla, M. Macek, Jason P. Fine, P. Farrell. Human Mutation, 2002

1,122 citations recorded by the source corpus.

Subfields: Pulmonary and Respiratory Medicine

View Paper: https://www.semanticscholar.org/paper/b86afeadf6144d42ae8795a3df5d18f4a224d24a

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Citations in the corpus

Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809 (2011, background): “Although these results support increasing CFTR function as a strategy to treat CF, the G551D CFTR mutation is present in fewer than 5% of patients with CF (11).”
Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing (2011, methodology): “RainDance RDT1000 target enrichment was as described and used a custom primer library (16, 46): Genomic DNA samples were fragmented by nebulization to 2 to 4 kb and 1 mg mixed with all PCR reagents but primers.”
Candidate Genes and Political Behavior (2012, background): “…locus being associated with the disorder; for example, more than 1,400 different mutations on the CFTR gene have been identified thus far that can cause cystic fibrosis, a recessive disorder, and different mutations have been associated with differences in disease phenotype (Bobadilla et al. 2002).”
Common vs. Rare Allele Hypotheses for Complex Diseases (2009, positive): “The identification of a number of rare variations from survey sequencing studies of physiologic important human genes is also consistent with studies of genes known to lead to rare diseases, such as cystic fibrosis and BRCA1 and BRCA2 forms of breast cancer, in which hundreds of rare, yet disease-ca”
Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods (2006, background): “Specific examples where high frequencies of missense mutations are associated with disease include the tumor suppressor TP53 and sporadic cancers (3), CFTR and cystic fibrosis (4) and AVPR2 and neurogenic diabetes insipidus (http://www.”
Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770 (2009, neutral): “The most common CFTR mutation, F508del, accounts for 70% of all CFTR alleles in patients with CF (15).”
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. (2008, neutral): “1% in selected population derived” indicates presence in Europe, and due to immigration also in America, Au References: [4,15,11,30,144–150].”