{"id":5967,"date":"2026-08-04T14:54:09","date_gmt":"2026-08-04T07:54:09","guid":{"rendered":"https:\/\/www2.si.mahidol.ac.th\/department\/biochemistry\/?p=5967"},"modified":"2026-08-04T14:55:24","modified_gmt":"2026-08-04T07:55:24","slug":"identification-of-novel-mutation-in-rankl-by-whole-exome-sequencing-in-a-thai-family-with-osteopetrosis-a-case-report-and-review-of-rankl-osteopetrosis","status":"publish","type":"post","link":"https:\/\/www2.si.mahidol.ac.th\/department\/biochemistry\/identification-of-novel-mutation-in-rankl-by-whole-exome-sequencing-in-a-thai-family-with-osteopetrosis-a-case-report-and-review-of-rankl-osteopetrosis\/","title":{"rendered":"Identification of novel mutation in RANKL by whole-exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis"},"content":{"rendered":"<p>Pongtawat Lertwilaiwittaya, <strong>Bhoom Suktitipat<\/strong>, Phongphak Khongthon, Warut Pongsapich, Chanin Limwongse, Manop Pithukpakorn<\/p>\n<h2 class=\"title\">Abstract<\/h2>\n<div id=\"eng-abstract\" class=\"abstract-content selected\">\n<div class=\"title\">\n<p>The literature surrounding the use of antisense oligonucleotides continues to grow, with new disease and mechanistic applications constantly evolving. Furthermore, the discovery and advancement of novel chemistries continues to improve antisense delivery, stability and effectiveness. For each new application, a rational sequence design is recommended for each oligomer, as is chemistry and delivery optimization. To confirm oligomer delivery and antisense activity, a positive control AO sequence with well characterized target-specific effects is recommended. Here, we describe splice-switching antisense oligomer sequences targeting the ubiquitously expressed human and mouse SMN and Smn genes for use as control AOs for this purpose. We report two AO sequences that induce targeted skipping of SMN1\/SMN2 exon 7 and two sequences targeting the Smn gene, that induce skipping of exon 5 and exon 7. These antisense sequences proved effective in inducing alternative splicing in both in vitro and in vivo models and are therefore broadly applicable as controls. Not surprisingly, we discovered a number of differences in efficiency of exon removal between the two species, further highlighting the differences in splice regulation between species.<\/p>\n<p><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/34069072\/\">https:\/\/pubmed.ncbi.nlm.nih.gov\/34069072\/<\/a><\/p>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>Pongtawat Lertwilaiwittaya, Bhoom Suktitipat, Phongphak [&#8230;]\n","protected":false},"author":6,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3],"tags":[],"class_list":["post-5967","post","type-post","status-publish","format-standard","hentry","category-3"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.3 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Identification of novel mutation in RANKL by whole-exome sequencing in a Thai family with osteopetrosis; a case 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