{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T09:09:52Z","timestamp":1778231392240,"version":"3.51.4"},"reference-count":20,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Clin Med Insights Endocrinol Diabetes"],"published-print":{"date-parts":[[2026,5]]},"abstract":"\n Variants in the\n Glucokinase Regulator<\/jats:italic>\n \u2009(\n GCKR<\/jats:italic>\n ) gene are increasingly being detected with growing applications of genomic sequencing technologies. Despite the crucial roles of the\n GCKR<\/jats:italic>\n gene in energy homeostasis, the clinical applications of\n GCKR<\/jats:italic>\n variants are currently limited. We observed that a large proportion of\n GCKR<\/jats:italic>\n variants that are available in gnomAD database (\n https:\/\/gnomad.broadinstitute.org\/<\/jats:ext-link>\n ) lacked adequate evidence of pathogenicity or benign impact. We highlight the clinical need for an improved understanding of\n GCKR<\/jats:italic>\n variants by presenting 2 compelling cases of unrelated families (3 individuals in total) who harbor rare\n GCKR<\/jats:italic>\n variants in the context of cornea arcus and hyperlipidemia.\u2009Our observations underscore the burgeoning need for functional as well as family segregation studies to facilitate the clinical applications of\n GCKR<\/jats:italic>\n variants.\n <\/jats:p>","DOI":"10.1177\/11795514261441435","type":"journal-article","created":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T09:19:58Z","timestamp":1778059198000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Cornea Arcus and Dyslipidemia in Unrelated Adults With Monoallelic Germline Variants in the\n Glucokinase Regulator<\/i>\n Gene"],"prefix":"10.1177","volume":"19","author":[{"given":"Bukola A.","family":"Olarewaju","sequence":"first","affiliation":[{"name":"School of Science and Engineering, University of Dundee, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ileana","family":"Trujillo","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics, Mayo Clinic, Phoenix, AZ, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6658-3964","authenticated-orcid":false,"given":"Mayowa A.","family":"Osundiji","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics, Mayo Clinic, Phoenix, AZ, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2026,5,6]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00356171"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.275.14.10597"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/nsmb.2717"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ecl.2012.11.006"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12933-024-02321-z"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.metabol.2025.156150"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2023.1247611"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.628"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1161\/ATVBAHA.122.318445"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI46425"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/hep.24806"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-012-1151-9"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/s11033-012-2470-6"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1155\/2013\/215407"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku1205"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1186\/1476-511X-7-7"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.2337\/dc10-2218"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1177\/20420188241280540"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.3390\/cimb47100850"}],"container-title":["Clinical Medicine Insights: Endocrinology and Diabetes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11795514261441435","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/11795514261441435","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11795514261441435","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T08:16:21Z","timestamp":1778228181000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/11795514261441435"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5]]},"references-count":20,"alternative-id":["10.1177\/11795514261441435"],"URL":"https:\/\/doi.org\/10.1177\/11795514261441435","relation":{},"ISSN":["1179-5514","1179-5514"],"issn-type":[{"value":"1179-5514","type":"print"},{"value":"1179-5514","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5]]},"article-number":"11795514261441435"}}