{"id":473393,"date":"2025-10-04T11:03:31","date_gmt":"2025-10-04T11:03:31","guid":{"rendered":"https:\/\/www.europesays.com\/uk\/473393\/"},"modified":"2025-10-04T11:03:31","modified_gmt":"2025-10-04T11:03:31","slug":"one-size-fits-nearly-all-fix-for-v2r-mutations","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/uk\/473393\/","title":{"rendered":"One-size-fits-(nearly)-all fix for V2R mutations"},"content":{"rendered":"<p>Genetic\/congenital<\/p>\n<p>Genetic mutations are the primary cause of most rare diseases. Although each condition affects a small fraction of the population, the global impact is significant, with an estimated 300 million individuals affected worldwide. A large proportion of pathogenic missense variants \u2013 estimated at 40%-60% \u2013 cause rare diseases by impairing protein stability. This underscores protein restoration as a promising therapeutic strategy. <\/p>\n<p><a class=\"topic\" href=\"https:\/\/www.bioworld.com\/topics\/520-bioworld-science\" target=\"_blank\" rel=\"noopener\">BioWorld Science<\/a> <a class=\"topic\" href=\"https:\/\/www.bioworld.com\/topics\/548-genetic-congenital\" target=\"_blank\" rel=\"noopener\">Genetic\/congenital<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"Genetic\/congenital Genetic mutations are the primary cause of most rare diseases. Although each condition affects a small fraction&hellip;\n","protected":false},"author":2,"featured_media":473394,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3846],"tags":[130417,157406,130419,267,157409,6448,70,157408,16,15,157407],"class_list":{"0":"post-473393","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-bioworld-science","9":"tag-centre-for-genomic-regulation","10":"tag-genetic-congenital","11":"tag-genetics","12":"tag-nephrogenic-diabetes-insipidus","13":"tag-rare-disease","14":"tag-science","15":"tag-tolvaptan","16":"tag-uk","17":"tag-united-kingdom","18":"tag-vasopressin-v2-receptor"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@uk\/115315566414718823","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/473393","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/comments?post=473393"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/473393\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media\/473394"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media?parent=473393"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/categories?post=473393"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/tags?post=473393"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}