{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:53:14Z","timestamp":1761101594740},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,4,21]],"date-time":"2002-04-21T00:00:00Z","timestamp":1019347200000},"content-version":"vor","delay-in-days":79,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2002,2]]},"abstract":"<jats:p><jats:bold>Abstract:<\/jats:bold> Generalized atrophic benign epidermolysis bullosa [GABEB (OMIM no. 226650)] is an inherited subepidermal blistering disease typically caused by null mutations in <jats:italic>COL17A1<\/jats:italic>, the gene encoding type XVII collagen. Studies of GABEB keratinocytes homozygous for 4003delTC showed that this 2\u2003bp deletion results in markedly reduced <jats:italic>COL17A1<\/jats:italic> transcripts due to nonsense mediated\u2010mRNA decay. To explore consequences of this null mutation in <jats:italic>COL17A1<\/jats:italic> on the expression of other genes, RNA samples from reference GABEB and normal keratinocytes were profiled in comparative screens of microarrays of known cDNAs (<jats:italic>n<\/jats:italic>\u2003=\u20036180) and expressed sequence tags (ESTs) (<jats:italic>n<\/jats:italic>\u2003=\u200315\u2003144). All comparative hybridization experiments were performed\u2003\u2265\u2003twice; data were quantitated by densitometry and analyzed using peak quantification statistical comparative analysis (P\u2010SCAN) software to identify differentially expressed genes. Representative genes found to be differentially expressed were verified using real\u2010time reverse transcription\u2010polymerase chain reaction (RT\u2010PCR). These experiments determined that expression of nonsense\u2010mediated mRNA decay <jats:italic>trans<\/jats:italic>\u2010acting factor (NMD\u2010F), the regulator of nonsense transcripts (i.e. the human homolog of the yeast Upf1 protein), was upregulated in GABEB keratinocytes. NMD\u2010F was subsequently found to be upregulated in cultured keratinocytes from other GABEB patients homozygous for 4003delTC. These findings indicate that the gene responsible for nonsense\u2010mediated mRNA decay is upregulated in keratinocytes known to eliminate mutant <jats:italic>COL17A1<\/jats:italic> transcripts via this highly conserved mechanism.<\/jats:p>","DOI":"10.1034\/j.1600-0625.2002.110108.x","type":"journal-article","created":{"date-parts":[[2003,3,11]],"date-time":"2003-03-11T20:27:17Z","timestamp":1047414437000},"page":"75-81","source":"Crossref","is-referenced-by-count":6,"title":["Comprehensive analysis of gene expression profiles in keratinocytes from patients with generalized atrophic benign epidermolysis bullosa"],"prefix":"10.1111","volume":"11","author":[{"given":"Ariana","family":"Huber","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carole","family":"Yee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas 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