{"id":8789,"date":"2017-04-04T09:41:38","date_gmt":"2017-04-04T07:41:38","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/gen-des-monats-maerz-psenen\/"},"modified":"2017-04-05T15:40:57","modified_gmt":"2017-04-05T13:40:57","slug":"gene-of-month-march-psenen","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-month-march-psenen\/","title":{"rendered":"Gene of the Month &#8211; March: PSENEN"},"content":{"rendered":"<p>Dowling-Degos disease is a skin pigmentation disorder characterized by small dark brown, partly hyperkeratotic spots and papules located in certain areas of the body. It is a genetically very heterogeneous disorder, and underlying mutations have been described in three genes (<em>KRT5<\/em>, <em>POFUT1<\/em> and <em>POGLUT1<\/em>). Researchers now report in the <em>Journal of Clinical Investigations<\/em> on dominant de novo mutations in <em>PSENEN<\/em> in patients with Dowling-Degos disease. <em>PSENEN<\/em> encodes the presinilin enhancer protein 2. Comprehensive functional analyses performed in this study provide fascinating insights into the molecular pathogenesis of the disorder. The results suggest that disturbed migration and differentiation of melanocytes play an important role in the development of the Dowling-Degos disease. Interestingly, patients harboring a <em>PSENEN<\/em> mutation often also present with a specific type of acne (acne inversa) so that the authors assume that PSENEN dysfunction also predisposes to inflammation of hair follicles.[vc_column_text] Ralser DJ, Basmanav FB, Tafazzoli A, \u2026 Betz RC. Mutations in \u03b3-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. <em>J Clin Invest<\/em> 2017 Mar 13. pii: 90667. doi: 10.1172\/JCI90667. [Epub ahead of print][\/vc_column_text][mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28287404&#8243; target=&#8221;_blank&#8221; bg_color=&#8221;#006699&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Article in PubMed[\/mk_button][mk_padding_divider size=&#8221;30&#8243;]\n","protected":false},"excerpt":{"rendered":"<p>Dowling-Degos disease is a skin pigmentation disorder characterized by small dark brown, partly hyperkeratotic spots and papules located in certain areas of the body. It is a genetically very heterogeneous disorder, and underlying mutations have been described in three genes (KRT5, POFUT1 and POGLUT1). Researchers now report in the Journal of Clinical Investigations on dominant [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-8789","post","type-post","status-publish","format-standard","hentry","category-gene-of-the-month"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Gene of the Month - March: PSENEN - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-month-march-psenen\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gene of the Month - March: PSENEN - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"Dowling-Degos disease is a skin pigmentation disorder characterized by small dark brown, partly hyperkeratotic spots and papules located in certain areas of the body. 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