{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T00:29:14Z","timestamp":1782779354197,"version":"3.54.5"},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"20","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,10,15]]},"DOI":"10.1093\/hmg\/ddu269","type":"journal-article","created":{"date-parts":[[2014,5,31]],"date-time":"2014-05-31T04:31:01Z","timestamp":1401510661000},"page":"5570-5578","source":"Crossref","is-referenced-by-count":23,"title":["Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families"],"prefix":"10.1093","volume":"23","author":[{"given":"Matthew G.","family":"Rees","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Raimondo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew R.","family":"Ban","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mindy I.","family":"Davis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Barrett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Ranft","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Jagdhuhn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rica","family":"Waterstradt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Baltrusch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anton","family":"Simeonov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis S.","family":"Collins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert A.","family":"Hegele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna L.","family":"Gloyn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2014,5,30]]},"reference":[{"key":"key\n\t\t\t\t20170522122425_DDU269C1","first-page":"291","article-title":"From genetic discovery to future personalized health research","volume":"30","year":"2013","journal-title":"Nat. Biotechnol."},{"key":"key\n\t\t\t\t20170522122425_DDU269C2","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1038\/ng.1053","article-title":"Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes","volume":"44","year":"2012","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522122425_DDU269C3","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1172\/JCI46425","article-title":"Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes","volume":"122","year":"2012","journal-title":"J. Clin. Invest."},{"key":"key\n\t\t\t\t20170522122425_DDU269C4","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1038\/ng.2303","article-title":"Exome sequencing and the genetic basis of complex traits","volume":"44","year":"2012","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522122425_DDU269C5","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1089\/gtmb.2010.0036","article-title":"Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations","volume":"14","year":"2010","journal-title":"Genet. Test. Mol. Biomarkers"},{"key":"key\n\t\t\t\t20170522122425_DDU269C6","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1093\/oxfordjournals.aje.a115175","article-title":"Genetic heritability and common environmental components of resting and stressed blood pressures, lipids, and body mass index in Utah pedigrees and twins","volume":"129","year":"1989","journal-title":"Am. J. Epidemiol."},{"key":"key\n\t\t\t\t20170522122425_DDU269C7","doi-asserted-by":"crossref","first-page":"1331","DOI":"10.1126\/science.1142358","article-title":"Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels","volume":"316","year":"2007","journal-title":"Science"},{"key":"key\n\t\t\t\t20170522122425_DDU269C8","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1038\/ng.628","article-title":"Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia","volume":"42","year":"2010","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170522122425_DDU269C9","doi-asserted-by":"crossref","first-page":"4081","DOI":"10.1093\/hmg\/ddp357","article-title":"The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver","volume":"18","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170522122425_DDU269C10","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1007\/s00125-011-2348-5","article-title":"Cellular characterisation of the GCKR P446L variant associated with type 2 diabetes risk","volume":"55","year":"2012","journal-title":"Diabetologia"},{"key":"key\n\t\t\t\t20170522122425_DDU269C11","doi-asserted-by":"crossref","first-page":"3523","DOI":"10.1021\/bi4000782","article-title":"Crystal structure of glucokinase regulatory protein","volume":"52","year":"2013","journal-title":"Biochemistry"},{"key":"key\n\t\t\t\t20170522122425_DDU269C12","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1101\/gr.176601","article-title":"Predicting deleterious amino acid substitutions","volume":"11","year":"2001","journal-title":"Genome Res."},{"key":"key\n\t\t\t\t20170522122425_DDU269C13","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","year":"2010","journal-title":"Nat. Methods"},{"key":"key\n\t\t\t\t20170522122425_DDU269C14","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.ajhg.2011.03.004","article-title":"Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel","volume":"88","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170522122425_DDU269C15","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1038\/nature09270","article-title":"Biological, clinical and population relevance of 95 loci for blood lipids","volume":"466","year":"2010","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522122425_DDU269C16","doi-asserted-by":"crossref","first-page":"1916","DOI":"10.1161\/ATVBAHA.111.226365","article-title":"An increased burden of common and rare lipid-associated risk alleles contributes to the phenotypic spectrum of hypertriglyceridemia","volume":"31","year":"2011","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"key\n\t\t\t\t20170522122425_DDU269C17","doi-asserted-by":"crossref","first-page":"3112","DOI":"10.2337\/db08-0516","article-title":"Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations","volume":"57","year":"2008","journal-title":"Diabetes"},{"key":"key\n\t\t\t\t20170522122425_DDU269C18","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1038\/nrd2850","article-title":"Assessing the potential of glucokinase activators in diabetes therapy","volume":"8","year":"2009","journal-title":"Nat. Rev. Drug Discov."},{"key":"key\n\t\t\t\t20170522122425_DDU269C19","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1042\/BJ20120163","article-title":"Effects of a glucokinase activator on hepatic intermediary metabolism: study with (13)C-isotopomer-based metabolomics","volume":"444","year":"2012","journal-title":"Biochem. J."},{"key":"key\n\t\t\t\t20170522122425_DDU269C20","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1111\/j.1476-5381.2012.02201.x","article-title":"Small molecular glucokinase activators: has another new anti-diabetic therapeutic lost favour?","volume":"168","year":"2013","journal-title":"Br. J. Pharmacol."},{"key":"key\n\t\t\t\t20170522122425_DDU269C21","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1111\/j.1476-5381.2012.02184.x","article-title":"Small molecule glucokinase activators disturb lipid homeostasis and induce fatty liver in rodents: a warning for therapeutic applications in humans","volume":"168","year":"2013","journal-title":"Br. J. Pharmacol."},{"key":"key\n\t\t\t\t20170522122425_DDU269C22","doi-asserted-by":"crossref","first-page":"2560","DOI":"10.2337\/dc11-1200","article-title":"Effects of MK-0941, a novel glucokinase activator, on glycemic control in insulin-treated patients with type 2 diabetes","volume":"34","year":"2011","journal-title":"Diabetes Care"},{"key":"key\n\t\t\t\t20170522122425_DDU269C23","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.2337\/diabetes.51.4.1240","article-title":"The second activating glucokinase mutation (A456 V): implications for glucose homeostasis and diabetes therapy","volume":"51","year":"2002","journal-title":"Diabetes"},{"key":"key\n\t\t\t\t20170522122425_DDU269C24","doi-asserted-by":"crossref","first-page":"2433","DOI":"10.2337\/diabetes.52.9.2433","article-title":"Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations","volume":"52","year":"2003","journal-title":"Diabetes"},{"key":"key\n\t\t\t\t20170522122425_DDU269C25","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1038\/nature12724","article-title":"Antidiabetic effects of glucokinase regulatory protein small-molecule disruptors","volume":"504","year":"2013","journal-title":"Nature"},{"key":"key\n\t\t\t\t20170522122425_DDU269C26","first-page":"554","article-title":"Glucose-induced dissociation of glucokinase from its regulatory protein in the nucleus of hepatocytes prior to nuclear export","volume":"1843","year":"2013","journal-title":"Biochim. Biophys. Acta"},{"key":"key\n\t\t\t\t20170522122425_DDU269C27","doi-asserted-by":"crossref","first-page":"e89335","DOI":"10.1371\/journal.pone.0089335","article-title":"A Panel of Diverse Assays to Interrogate the Interaction between Glucokinase and Glucokinase Regulatory Protein, Two Vital Proteins in Human Disease","volume":"9","year":"2014","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20170522122425_DDU269C28","doi-asserted-by":"crossref","first-page":"2829","DOI":"10.2337\/diabetes.54.10.2829","article-title":"Interaction of glucokinase with the liver regulatory protein is conferred by leucine\u2013asparagine motifs of the enzyme","volume":"54","year":"2005","journal-title":"Diabetes"},{"issue":"Pt 1","key":"key\n\t\t\t\t20170522122425_DDU269C29","first-page":"167","article-title":"Variable effects of maturity-onset-diabetes-of-youth (MODY)-associated glucokinase mutations on substrate interactions and stability of the enzyme","volume":"309","year":"1995","journal-title":"Biochem. J."},{"key":"key\n\t\t\t\t20170522122425_DDU269C30","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1089\/adt.2005.3.189","article-title":"Piezo- and solenoid valve-based liquid dispensing for miniaturized assays","volume":"3","year":"2005","journal-title":"Assay Drug Dev. Technol."},{"key":"key\n\t\t\t\t20170522122425_DDU269C31","doi-asserted-by":"crossref","first-page":"10656","DOI":"10.1002\/anie.201204268","article-title":"Label-free microscale thermophoresis discriminates sites and affinity of protein-ligand binding","volume":"51","year":"2012","journal-title":"Angew. Chem. Int. Ed. Engl."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","deposited":{"date-parts":[[2017,6,22]],"date-time":"2017-06-22T14:08:52Z","timestamp":1498140532000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddu269"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,30]]},"references-count":31,"journal-issue":{"issue":"20","published-online":{"date-parts":[[2014,5,30]]},"published-print":{"date-parts":[[2014,10,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddu269","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,5,30]]}}}