{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T09:14:10Z","timestamp":1776417250323,"version":"3.51.2"},"reference-count":16,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T00:00:00Z","timestamp":1774828800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP24ek0109760"],"award-info":[{"award-number":["JP24ek0109760"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP25ek0109760"],"award-info":[{"award-number":["JP25ek0109760"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,4,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Recent studies have revealed multiple genetic variants affecting a highly conserved \u223c50\u2005bp region encompassing the putative NFAT-, NKX2-, and FOX-binding sites in HK1 intron 2 in congenital hyperinsulinism (CHI) with aberrant HK1 expression in \u03b2 cells. We identified a novel \u201clikely pathogenic\u201d variant (NC_000010.11:g.69348930T&amp;gt;C) within the FOX-binding site in a Japanese boy and his father with CHI. Furthermore, we performed luciferase assays using HEK293T cells transfected by luciferase reporter vector with 8 tandemly repeated 22\u2005bp segment harboring the wild-type or variant FOX-binding site and FOXA2 expression vector, showing a positive transactivation function for the wild-type binding site and an impaired transactivation function for the variant binding site. While it remains unknown how HK1 intronic variants lead to aberrant HK1 expression in \u03b2 cells and resultant development of CHI, the results indicate that the intron variant is associated with functional alteration in terms of FOXA2 stimulation.<\/jats:p>","DOI":"10.1093\/ejendo\/lvag058","type":"journal-article","created":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T12:45:52Z","timestamp":1774615552000},"page":"K15-K19","source":"Crossref","is-referenced-by-count":0,"title":["Novel\n                    <i>HK1<\/i>\n                    intronic variant in congenital hyperinsulinism: impaired transactivation function for FOXA2"],"prefix":"10.1093","volume":"194","author":[{"given":"Kaori","family":"Yamoto","sequence":"first","affiliation":[{"name":"Department of Biochemistry, Hamamatsu University School of Medicine , Hamamatsu 431-3192 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