DataSet Record GDS4844: Expression Profiles Data Analysis Tools Sample Subsets
Title: Cystic fibrosis: rectal epithelia
Cluster AnalysisGDS4844 Cluster Image
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Summary: Analysis of rectal mucosal epithelia from cystic fibrosis patients homozygous for the three-base-pair deletion c.1521_1523delCTT (p.Phe508del, F508del) in the cystic fibrosis transmembrane conductance regulator (CFTR). Results provide insight into molecular mechanisms underlying CF.
Organism: Homo sapiens
Platform: GPL96: [HG-U133A] Affymetrix Human Genome U133A Array
Citations:
  • Stanke F, van Barneveld A, Hedtfeld S, Wölfl S et al. The CF-modifying gene EHF promotes p.Phe508del-CFTR residual function by altering protein glycosylation and trafficking in epithelial cells. Eur J Hum Genet 2014 May;22(5):660-6. PMID: 24105369
  • Labenski H, Hedtfeld S, Becker T, Tümmler B et al. Initial interrogation, confirmation and fine mapping of modifying genes: STAT3, IL1B and IFNGR1 determine cystic fibrosis disease manifestation. Eur J Hum Genet 2011 Dec;19(12):1281-8. PMID: 21731057
  • Stanke F, Becker T, Ismer HS, Dunsche I et al. Consistent Assignment of Risk and Benign Allele at rs2303153 in the CF Modifier Gene <i>SCNN1B</i> in Three Independent F508del-<i>CFTR</i> Homozygous Patient Populations. Genes (Basel) 2021 Sep 29;12(10). PMID: 34680949
Reference Series: GSE15568 Sample count: 29
Value type: count Series published: 2013/11/28