ABCMdb

PMID: 23483918

van Meegen MA, Terheggen-Lagro SW, Koymans KJ, van der Ent CK, Beekman JM
Apical CFTR expression in human nasal epithelium correlates with lung disease in cystic fibrosis.
PLoS One. 2013;8(3):e57617. doi: 10.1371/journal.pone.0057617. Epub 2013 Mar 6., [PubMed]

Sentences

No. Mutations Sentence Comment

66 ABCC7 p.Ala455Glu 62% yes insufficient 3 F508del/A455E F 18. Login to comment 67 ABCC7 p.Ser1251Asn 48% yes sufficient 4 F508del/S1251N F 14. Login to comment 70 ABCC7 p.Arg553* 90% yes insufficient 7 F508del/R553X F 14. Login to comment 119 ABCC7 p.Arg553* High and low apical CFTR expression was observed in F508del-CFTR compound heterozygous patients (see Table 3 for classification of mutations) that carried class I mutations as second allele (1717-1G.A and R553X, respectively), suggesting that mono-allelic expression of F508del-CFTR could be sufficient to drive high levels of apical expression (Fig. 3, right scatter plots). Login to comment 120 ABCC7 p.Ser1251Asn Apical expression in a subject with S1251N was somewhat lower than anticipated since we expected that CFTR mutations that affect gating or conductivity would be expressed at levels of healthy control subjects. Login to comment 125 ABCC7 p.Ser1251Asn A similar trend was observed when the subject containing F508del/S1251N that contained a gating mutant that can be expected to be expressed at levels of wt-CFTR, was excluded from analysis. Login to comment 204 ABCC7 p.Ser1251Asn A subject that expresses a CFTR allele associated with reduced gating is indicated in green (F508del/S1251N). Login to comment 208 ABCC7 p.Ala455Glu ABCC7 p.Arg553* 1717-1G.A Class I altered splicing 365insT Class I frameshift 4243-3T.A Class V altered splicing A455E Class II, V missense F508del Class II, III, VI amino acid deletion IVS11-1G.C Class I altered splicing R553X Class I nonsense S1252N Class III missense doi:10.1371/journal.pone.0057617.t003 Supporting Information Figure S1 Bland-Altman plots. Login to comment