{"id":225254,"date":"2025-11-17T13:10:11","date_gmt":"2025-11-17T19:10:11","guid":{"rendered":"https:\/\/lifeboat.com\/blog\/2025\/11\/xp140br-6-year-old-girl-with-xp-j"},"modified":"2025-11-17T13:10:11","modified_gmt":"2025-11-17T19:10:11","slug":"xp140br-6-year-old-girl-with-xp-j","status":"publish","type":"post","link":"https:\/\/lifeboat.com\/blog\/2025\/11\/xp140br-6-year-old-girl-with-xp-j","title":{"rendered":"XP140BR: 6-year-old girl with XP-J"},"content":{"rendered":"<p><a class=\"aligncenter blog-photo\" href=\"https:\/\/lifeboat.com\/blog.images\/xp140br-6-year-old-girl-with-xp-j.jpg\"><\/a><\/p>\n<p>This issue\u2019s cover features companion papers that exemplify how understanding a rare disease can inform treatment strategies in other conditions.<\/p>\n<p>Fassihi et al. and Nakazawa et al. report on the C-terminal deletion of transcription factor TFIIH-p52 subunit as a cause of xeroderma pigmentosum.<\/p>\n<p>The cover art was created using PyMOL; TFIIH-p52 subunit (blue; C-terminus in white). Image credit: Keiko Itano.<\/p>\n<p><a href=\"https:\/\/www.jci.org\/articles\/view\/195731\">https:\/\/www.jci.org\/articles\/view\/195731<\/a> <a href=\"https:\/\/www.jci.org\/articles\/view\/195732\">https:\/\/www.jci.org\/articles\/view\/195732<\/a><\/p>\n<hr>\n<p>\n<sup>1<\/sup>National Xeroderma Pigmentosum Service, Rare Disease Centre, Guy\u2019s and St Thomas\u2019 NHS Trust, London, United Kingdom.<\/p>\n<p><sup>2<\/sup>Department of Molecular Genetics, Nagoya University Graduate School of Medicine, Nagoya, Japan.<\/p>\n<div class=\"more-link-wrapper\"> <a class=\"more-link\" href=\"https:\/\/lifeboat.com\/blog\/2025\/11\/xp140br-6-year-old-girl-with-xp-j\">Continue reading \u201cXP140BR: 6-year-old girl with XP-J\u201d | &gt;<\/a><\/div><\/p>\n","protected":false},"excerpt":{"rendered":"<p>This issue\u2019s cover features companion papers that exemplify how understanding a rare disease can inform treatment strategies in other conditions. Fassihi et al. and Nakazawa et al. report on the C-terminal deletion of transcription factor TFIIH-p52 subunit as a cause of xeroderma pigmentosum. The cover art was created using PyMOL; TFIIH-p52 subunit (blue; C-terminus in [\u2026]<\/p>\n","protected":false},"author":662,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11,412],"tags":[],"class_list":["post-225254","post","type-post","status-publish","format-standard","hentry","category-biotech-medical","category-genetics"],"_links":{"self":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/225254","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/users\/662"}],"replies":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/comments?post=225254"}],"version-history":[{"count":0,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/225254\/revisions"}],"wp:attachment":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/media?parent=225254"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/categories?post=225254"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/tags?post=225254"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}