{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T05:52:33Z","timestamp":1790229153142,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2014,7,16]],"date-time":"2014-07-16T00:00:00Z","timestamp":1405468800000},"content-version":"vor","delay-in-days":15,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Grants-in-Aid for Scientific Research and Strategic Research Basis Formation Supporting Project from the Ministry of Education, Culture, Sports, Science and Technology of Japan"},{"name":"Health and Labour Sciences Research Grants and grants for Research on Measures for Intractable Diseases from the Ministry of Health, Labour and Welfare of Japan"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hailey\u2013Hailey disease (HHD) is a dominantly inherited skin disease caused by mutations in <jats:italic>ATP2C1<\/jats:italic> gene, which encodes secretory pathway Ca<jats:sup>2+<\/jats:sup>\/Mn<jats:sup>2+<\/jats:sup>\u2010ATPase protein 1. The precise mechanism remains unclear. In this study, to understand molecular basis of HHD, we examined expression of mRNA and protein in cultured keratinocytes derived from three HHD patients with different mutations. We showed that reduced expression of mRNA and protein in patient with p.Gln504X, but not in patients with p.Pro307His and c.1308+1G&gt;A. RT\u2010PCR analysis for patient with c.1308+1G&gt;A revealed in\u2010frame exon skipping. Reduction of mRNA and protein in p.Gln504X was considered to be caused by nonsense\u2010mediated mRNA decay. p.Pro307His located adjacent to Ca<jats:sup>2+<\/jats:sup>\u2010binding residue may induced conformational change, which leads to defective Ca<jats:sup>2+<\/jats:sup> transport. In\u2010frame shorter transcript caused by c.1308+1G&gt;A may have slightly reduced activity, which accounted for mild phenotype of the patient. These results clarified the pathogenic effects of different causative mutations in development of skin lesions.<\/jats:p>","DOI":"10.1111\/exd.12410","type":"journal-article","created":{"date-parts":[[2014,4,3]],"date-time":"2014-04-03T15:33:37Z","timestamp":1396539217000},"page":"514-516","source":"Crossref","is-referenced-by-count":13,"title":["Mutation\u2010dependent effects on mRNA and protein expressions in cultured keratinocytes of Hailey\u2013Hailey disease"],"prefix":"10.1111","volume":"23","author":[{"given":"Mitsuhiro","family":"Matsuda","sequence":"first","affiliation":[{"name":"Department of Dermatology Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology Kurume Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahiro","family":"Hamada","sequence":"additional","affiliation":[{"name":"Department of Dermatology Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology 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