{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T13:03:09Z","timestamp":1761310989537},"reference-count":14,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2014,11,13]],"date-time":"2014-11-13T00:00:00Z","timestamp":1415836800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Heinz and Heide D\u00fcrr Stiftung"},{"name":"Deutsche Forschungsgemeinschaft DFG","award":["GRK 1034"],"award-info":[{"award-number":["GRK 1034"]}]},{"name":"Tomsk State University Competitiveness Improvement Program"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The nucleotide excision repair (<jats:styled-content style=\"fixed-case\">NER<\/jats:styled-content>) pathway repairs <jats:styled-content style=\"fixed-case\">UV<\/jats:styled-content>\u2010induced <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> lesions in an accurate fashion and prevents <jats:styled-content style=\"fixed-case\">UV<\/jats:styled-content>\u2010irradiated areas of the skin from tumour formation. The <jats:styled-content style=\"fixed-case\">XPA<\/jats:styled-content> protein plays a major role in <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> damage demarcation as well as stabilization of other <jats:styled-content style=\"fixed-case\">NER<\/jats:styled-content> factors and was found to be defective in xeroderma pigmentosum (<jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>) complementation group A patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>Characterization of four new <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010A patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Genomic and <jats:styled-content style=\"fixed-case\">cDNA<\/jats:styled-content> sequencing, post\u2010UV cell survival of living cells, host\u2010cell reactivation of patients' fibroblasts and Western blotting.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>One of the four investigated patients shows a novel mutation leading to two different truncated protein variants. Three patients contain the already described p.R228X mutation. All patient cell lines exhibit a strong <jats:styled-content style=\"fixed-case\">UVC<\/jats:styled-content> sensitivity and reduced <jats:styled-content style=\"fixed-case\">NER<\/jats:styled-content> capability. In most of the cases stable protein expression was detected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We discovered four new <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010A patients and a novel <jats:italic><jats:styled-content style=\"fixed-case\">XPA<\/jats:styled-content><\/jats:italic> mutation resulting in two diverse patient alleles.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.12841","type":"journal-article","created":{"date-parts":[[2014,11,13]],"date-time":"2014-11-13T10:19:22Z","timestamp":1415873962000},"page":"2479-2482","source":"Crossref","is-referenced-by-count":4,"title":["A novel mutation in the <i><scp>XPA<\/scp><\/i> gene results in two truncated protein variants and leads to a severe <scp>XP<\/scp>\/neurological symptoms phenotype"],"prefix":"10.1111","volume":"29","author":[{"given":"J.","family":"Lehmann","sequence":"first","affiliation":[{"name":"Department of Dermatology, Venereology and Allergology University Medical Center G\u00f6ttingen G\u00f6ttingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Schubert","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Allergology University Medical Center G\u00f6ttingen G\u00f6ttingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Sch\u00e4fer","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Allergology University Medical Center G\u00f6ttingen G\u00f6ttingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Laspe","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Allergology University Medical Center G\u00f6ttingen G\u00f6ttingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.A.","family":"Haenssle","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Allergology University Medical Center G\u00f6ttingen G\u00f6ttingen Germany"},{"name":"Department of Dermatology, Venereology and Allergology University Medical Center Heidelberg Heidelberg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Ohlenbusch","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine Division of Pediatric Neurology University Medical Center Georg August University G\u00f6ttingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Gratchev","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Allergology University Medical Center Mannheim Mannheim Germany"},{"name":"Institute of Carcinogenesis NN Blokhin Cancer Research Center Russian Academy of Medical Sciences Moscow Russia"},{"name":"Laboratory for Translational Cellular and Molecular Biomedicine Tomsk State University Tomsk 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