ABCMdb

PMID: 16014420

Bensalem N, Ventura AP, Vallee B, Lipecka J, Tondelier D, Davezac N, Dos Santos A, Perretti M, Fajac A, Sermet-Gaudelus I, Renouil M, Lesure JF, Halgand F, Laprevote O, Edelman A
Down-regulation of the anti-inflammatory protein annexin A1 in cystic fibrosis knock-out mice and patients.
Mol Cell Proteomics. 2005 Oct;4(10):1591-601. Epub 2005 Jul 12., [PubMed]

Sentences

No. Mutations Sentence Comment

8 ABCC7 p.Tyr122* More importantly, annexin A1 was down-regulated in nasal epithelial cells from CF patients bearing homozygous nonsense mutations in the CFTR gene (Y122X, 489delC) and differentially expressed in F508del patients. Login to comment 48 ABCC7 p.Tyr122* ABCC7 p.Tyr122* Nasal Epithelial Cells from CF Patients-Six CF patients with a Y122X/Y122X nonsense mutation were followed up in the CF centers at the Saint Pierre Children Hospital and at Saint Denis Children Hospital (La Re´ union, France). Login to comment 156 ABCC7 p.Tyr122* ABCC7 p.Tyr122* Six CF patients, bearing the Y122X/Y122X nonsense mutation and one homozygous for 489delC, both predicted to encode a truncated protein ending at part of the second transmembrane domain of the CFTR protein, were analyzed. Login to comment 160 ABCC7 p.Tyr122* ABCC7 p.Tyr122* First, we conducted an immunocytochemistry investigation to confirm the absence of CFTR in nasal epithelial cells from Y122X/Y122X and 489delC patients (data not shown). Login to comment 259 ABCC7 p.Tyr122* ABCC7 p.Tyr122* ABCC7 p.Tyr122* ABCC7 p.Tyr122* d-f, annexin A1 staining could not be detected in CF patients bearing the Y122X/ Y122X mutation (d and f); slight staining was observed in another Y122X/Y122X CF patient (e). Login to comment 262 ABCC7 p.Tyr122* ABCC7 p.Tyr122* ABCC7 p.Tyr122* ABCC7 p.Tyr122* ABCC7 p.Tyr122* ABCC7 p.Tyr122* ABCC7 p.Tyr122* ABCC7 p.Tyr122* ABCC7 p.Tyr122* ABCC7 p.Tyr122* CF patients Age Sweat test FEV1 a Annexin A1 staining Severity yr meq/liter % Y122X/Y122X 18 126 99 - Mild Y122X/Y122X 13 103 78 ϩ/- Mild Y122X/Y122X 22 108 80 - Mild Y122X/Y122X 14 116 76 - Mild Y122X/Y122X 15 90 62 - Mild 489delC/489delC 12 130 89 - Severe F508del/ F508del 15 98 77 ϩϩ Mild F508del/ F508del 2 ND ND ϩϩ Mild F508del/ F508del 11 110 60 ϩ Severe a Forced expiratory volume. Login to comment