{"id":1307,"date":"2025-09-24T02:00:00","date_gmt":"2025-09-24T02:00:00","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=8f46834dec9ba927f41059d95b8d020b"},"modified":"2025-09-24T23:00:00","modified_gmt":"2025-09-24T23:00:00","slug":"unraveling-the-impact-of-vhl-exon-2-mutations-in-erythrocytosis-or-von-hippel-lindau-disease-identified-rna-binding-proteins-involved-in-vhl-splicing","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2025\/09\/24\/unraveling-the-impact-of-vhl-exon-2-mutations-in-erythrocytosis-or-von-hippel-lindau-disease-identified-rna-binding-proteins-involved-in-vhl-splicing\/","title":{"rendered":"Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing"},"content":{"rendered":"Mutations in VHL exon 2 associated with erythrocytosis or VHL disease affect both splicing and protein stability. This study uncovers regulatory splicing elements and implicates RNA-binding proteins hnRNPF and hnRNPAB in VHL exon 2 regulation, highlighting limitations of current prediction tools and providing insights into VHL-related molecular pathogenesis.","protected":false},"excerpt":{"rendered":"<p>Mutations in VHL exon 2 associated with erythrocytosis or VHL disease affect both splicing and protein stability. This study uncovers regulatory splicing elements and implicates RNA-binding proteins hnRNPF and hnRNPAB in VHL exon 2 regulation, highligh&#8230;<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,41],"tags":[48],"class_list":["post-1307","post","type-post","status-publish","format-standard","hentry","category-articulos","category-the-american-journal-of-human-genetics","tag-amjhumgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1307","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=1307"}],"version-history":[{"count":23,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1307\/revisions"}],"predecessor-version":[{"id":2431,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1307\/revisions\/2431"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=1307"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=1307"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=1307"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}