{"id":633,"date":"2014-01-29T18:52:34","date_gmt":"2014-01-29T18:52:34","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=633"},"modified":"2014-01-29T18:52:34","modified_gmt":"2014-01-29T18:52:34","slug":"normal-and-aberrant-splicing-of-lmna","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2014\/01\/29\/normal-and-aberrant-splicing-of-lmna\/","title":{"rendered":"Normal and aberrant splicing of LMNA"},"content":{"rendered":"<p>The <i>LMNA<\/i> gene is ubiquitously expressed and is alternatively spliced to give rise to the nuclear lamina proteins lamin A\/C, as well as the truncated product progerin that accumulates in the Hutchinson-Gilford progeria syndrome. Mutations in <i>LMNA <\/i>can result in a variety of clinical phenotypes, which may involve the skin or skeletal muscles or cause more widespread involvement of other tissues. The review discusses the regulation of <i>LMNA<\/i> splicing, a subgroup of <i>LMNA <\/i>mutations that affect splicing of <i>LMNA<\/i> pre-mRNA, and the manipulation of <i>LMNA<\/i> splicing using antisense oligonucleotides and its therapeutic potential for treatment of this group of laminopathies. (By Professor Steve Wilton, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2014\/01\/23\/jmedgenet-2013-102119\">http:\/\/jmg.bmj.com\/content\/early\/2014\/01\/23\/jmedgenet-2013-102119<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>The LMNA gene is ubiquitously expressed and is alternatively spliced to give rise to the nuclear lamina proteins lamin A\/C, as well as the truncated product progerin that accumulates in the Hutchinson-Gilford progeria syndrome. Mutations in LMNA can result in a variety of clinical phenotypes, which may involve the skin or skeletal muscles or cause [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2014\/01\/29\/normal-and-aberrant-splicing-of-lmna\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-633","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/633","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=633"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/633\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=633"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=633"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=633"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}