ABCMdb

PMID: 14670800

Becker MN, Sauer MS, Muhlebach MS, Hirsh AJ, Wu Q, Verghese MW, Randell SH
Cytokine secretion by cystic fibrosis airway epithelial cells.
Am J Respir Crit Care Med. 2004 Mar 1;169(5):645-53. Epub 2003 Dec 11., 2004-03-01 [PubMed]

Sentences

No. Mutations Sentence Comment

20 ABCC7 p.Gly551Asp Excessive cytokine production may reflect a cell stress response caused by mutant, misfolded CFTR accumulation in the endoplasmic reticulum, but cells with the G551D mutation, which express and traffic inactive CFTR to the cell surface, also had enhanced Ca2ϩ signaling and greater NF-␬B activity (17). Login to comment 48 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Asn1303Lys 1 3 TD 37 M 1 3 24 M ⌬F508/W1282X 1 4 NTD 19 M 1 4 25 M W1282X/N1303K 1 5 NTD 40 F 1 5 20 M ⌬F508/⌬F508 1, 2, 3, 5 6 COPD 60 M 1, 3, 4, 5 6 41 M ⌬F508/⌬F508 1, 2, 4, 5 7 NTD 23 M 2, 3 7 10 M ⌬F508/⌬F508 2 8 TD 36 F 2, 3 8 37 M Not genotyped 2 9 TD 21 M 2 9 28 M ⌬F508/⌬F508 2, 3, 4, 5 10 NTD 45 M 2 10 18 F ⌬F508/⌬F508 2, 4, 5 11 NTD 42 M 2 11 29 M ⌬F508/621ϩ1GϾT 3 12 NTD 22 M 2 12 47 F Not genotyped 3 13 COPD 57 M 3, 4 13 42 M ⌬F508/? Login to comment 49 ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly85Glu 3 14 NTD 51 F 3 14 30 F Not genotyped 3 15 TD 48 F 3 15 22 F ⌬F508/⌬F508 3, 4 16 NTD 45 F 3 16 42 M 2789ϩ5GϾA/N1303K 4 17 NTD 28 M 4 17 32 F ⌬F508/⌬F508 4 18 NTD 46 M 4 18 27 F ⌬F508/G542X 4 19 TD 20 M 4 19 21 F ⌬F508/G85E 4 20 PF 63 M 4 20 26 F N1303K/? Login to comment 51 ABCC7 p.Gly551Asp 5 25 NTD 67 F 4 25 41 F ⌬F508/G551D 5 26 NTD 57 M 5 27 NTD 48 M 5 28 NTD 62 F 5 29 NTD 44 F 5 30 NTD 48 M 5 31 NTD 55 F 5 32 NTD 26 M 5 33 NTD 49 M 5 Definition of abbreviations: CF ϭ cystic fibrosis; COPD ϭ chronic obstructive pulmonary disease; NTD ϭ nontransplant donor, lung unsuitable because of acute injury, age, etc.; PF ϭ pulmonary fibrosis; TD ϭ excess airway from lung transplant donor; ? Login to comment