{"id":9649,"date":"2018-03-01T10:22:58","date_gmt":"2018-03-01T09:22:58","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=9649"},"modified":"2018-03-01T10:22:58","modified_gmt":"2018-03-01T09:22:58","slug":"gene-of-the-month-february-tgfb1","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-february-tgfb1\/","title":{"rendered":"Gene of the Month \u2013 February: TGFB1"},"content":{"rendered":"<p>Transforming growth factors beta (TGF-\u03b2) are vital in embryonic development and the regulation of many fundamental cellular functions in the human body. By binding and activating specific receptors, they control various signaling pathways in a wide range of processes and, as such, are also involved in many pathomechanims leading to cancer, cardiovascular disease, fibrosis or other disorders. Their dual roles have made them the topic of intense scientific study and controversial discussions. TGF-\u03b2, for example, suppresses tumor development, but also promotes tumor progression.<\/p>\n<p>International researchers, including a group from Dr. von Hauner Children\u2019s Hospital at Munich, have now revealed that TGF-\u03b21, a prototypic member of the TGF-\u03b2 family, fulfils an essential and non-redundant function in the development and homeostasis of intestinal immunity and the central nervous system (CNS). In their study, they identified biallelic loss-of-function mutations in <em>TGFB1 <\/em>in three patients from two families presenting with severe infantile inflammatory bowel disease and CNS disease associated with epilepsy, brain atrophy and posterior leukoencephalopathy.<\/p>\n<p>The results of the study have been published in <em>Nature Genetics<\/em>.<\/p>\n[vc_column_text] Kotlarz D, Marquardt B, Bar\u00f8y T, [\u2026] Klein C. Human TGF-\u03b21 deficiency causes severe inflammatory bowel disease and encephalopathy.<em> Nat Genet<\/em>. 2018 Feb 26. doi: 10.1038\/s41588-018-0063-6. [Epub ahead of print] [\/vc_column_text]\n[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\/29483653&#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>Transforming growth factors beta (TGF-\u03b2) are vital in embryonic development and the regulation of many fundamental cellular functions in the human body. By binding and activating specific receptors, they control various signaling pathways in a wide range of processes and, as such, are also involved in many pathomechanims leading to cancer, cardiovascular disease, fibrosis or [&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-9649","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 \u2013 February: TGFB1 - 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-the-month-february-tgfb1\/\" \/>\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 \u2013 February: TGFB1 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"Transforming growth factors beta (TGF-\u03b2) are vital in embryonic development and the regulation of many fundamental cellular functions in the human body. 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