{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T14:52:26Z","timestamp":1781103146381,"version":"3.54.1"},"reference-count":29,"publisher":"Japanese Society for Pediatric Endocrinology","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clin Pediatr Endocrinol"],"published-print":{"date-parts":[[2018]]},"DOI":"10.1297\/cpe.27.59","type":"journal-article","created":{"date-parts":[[2018,4,12]],"date-time":"2018-04-12T18:20:51Z","timestamp":1523557251000},"page":"59-65","source":"Crossref","is-referenced-by-count":22,"title":["Chromosome 6q24-related diabetes mellitus"],"prefix":"10.1297","volume":"27","author":[{"given":"Tohru","family":"Yorifuji","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology and Metabolism, Children\u2019s Medical Center, Osaka City General Hospital, Osaka, Japan"},{"name":"Department of Genetic Medicine, Osaka City General Hospital, Osaka, Japan"},{"name":"Clinical Research Center, Osaka City General Hospital, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinji","family":"Higuchi","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and Metabolism, Children\u2019s Medical Center, Osaka City General Hospital, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Hosokawa","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and Metabolism, Children\u2019s Medical Center, Osaka City General Hospital, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rie","family":"Kawakita","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology and Metabolism, Children\u2019s Medical Center, Osaka City General Hospital, Osaka, Japan"},{"name":"Department of Genetic Medicine, Osaka City General Hospital, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"125","reference":[{"key":"1","unstructured":"1. Temple, IK, James, RS, Crolla, JA, Sitch, FL, Jacobs, PA, Howell, WM, et al. An imprinted gene(s) for diabetes?Nat Genet 1995;9: 110\u20132."},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Gardner, RJ, Mackay, DJ, Mungall, AJ, Polychronakos, C, Siebert, R, Shield, JP, et al. An imprinted locus associated with transient neonatal diabetes mellitus. Hum Mol Genet 2000;9: 589\u201396.","DOI":"10.1093\/hmg\/9.4.589"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Mackay, DJ, Temple, IK. Transient neonatal diabetes mellitus type 1. Am J Med Genet C Semin Med Genet 2010;154C: 335\u201342.","DOI":"10.1002\/ajmg.c.30272"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Mackay, D, Bens, S, Perez de Nanclares, G, Siebert, R, Temple, IK. Clinical utility gene card for: Transient Neonatal Diabetes Mellitus, 6q24-related. Eur J Hum Genet 2014;22: e1\u20134.","DOI":"10.1038\/ejhg.2014.27"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Docherty, LE, Kabwama, S, Lehmann, A, Hawke, E, Harrison, L, Flanagan, SE, et al. Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. Diabetologia 2013;56: 758\u201362.","DOI":"10.1007\/s00125-013-2832-1"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Rubio-Cabezas, O, Hattersley, AT, Nj\u00f8lstad, PR, Mlynarski, W, Ellard, S, White, N, et al. International Society for Pediatric and Adolescent Diabetes. ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes 2014;15(Suppl 20): 47\u201364.","DOI":"10.1111\/pedi.12192"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Shield, JP, Temple, IK, Sabin, M, Mackay, D, Robinson, DO, Betts, PR, et al. An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission. Arch Dis Child Fetal Neonatal Ed 2004;89: F341\u20133.","DOI":"10.1136\/adc.2003.030502"},{"key":"8","doi-asserted-by":"publisher","unstructured":"8. Temple, IK, Gardner, RJ, Mackay, DJ, Barber, JC, Robinson, DO, Shield, JP. Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes. Diabetes 2000;49: 1359\u201366.","DOI":"10.2337\/diabetes.49.8.1359"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Flanagan, SE, Mackay, DJ, Greeley, SA, McDonald, TJ, Mericq, V, Hassing, J, et al. Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype. Diabetologia 2013;56: 218\u201321.","DOI":"10.1007\/s00125-012-2766-z"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Busiah, K, Drunat, S, Vaivre-Douret, L, Bonnefond, A, Simon, A, Flechtner, I, et al. French NDM study group. Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected]. Lancet Diabetes Endocrinol 2013;1: 199\u2013207.","DOI":"10.1016\/S2213-8587(13)70059-7"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Iglesias-Platas, I, Court, F, Camprubi, C, Sparago, A, Guillaumet-Adkins, A, Martin-Trujillo, A, et al. Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF\/cohesin-mediated non-allelic chromatin loop. Nucleic Acids Res 2013;41: 2171\u20139.","DOI":"10.1093\/nar\/gks1355"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Valleley, EM, Cordery, SF, Bonthron, DT. Tissue-specific imprinting of the ZAC\/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters. Hum Mol Genet 2007;16: 972\u201381.","DOI":"10.1093\/hmg\/ddm041"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Mackay, DJ, Callaway, JL, Marks, SM, White, HE, Acerini, CL, Boonen, SE, et al. Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet 2008;40: 949\u201351.","DOI":"10.1038\/ng.187"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Bilanges, B, Varrault, A, Basyuk, E, Rodriguez, C, Mazumdar, A, Pantaloni, C, et al. Loss of expression of the candidate tumor suppressor gene ZAC in breast cancer cell lines and primary tumors. Oncogene 1999;18: 3979\u201388.","DOI":"10.1038\/sj.onc.1202933"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Bilanges, B, Varrault, A, Mazumdar, A, Pantaloni, C, Hoffmann, A, Bockaert, J, et al. Alternative splicing of the imprinted candidate tumor suppressor gene ZAC regulates its antiproliferative and DNA binding activities. Oncogene 2001;20: 1246\u201353.","DOI":"10.1038\/sj.onc.1204237"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Ma, D, Shield, JP, Dean, W, Leclerc, I, Knauf, C, Burcelin R, R, et al. Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. J Clin Invest 2004;114: 339\u201348.","DOI":"10.1172\/JCI200419876"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Blum, D, Dorchy, H, Mouraux, T, Vamos, E, Mardens, Y, Kumps, A, et al. Congenital absence of insulin cells in a neonate with diabetes mellitus and mutase-deficient methylmalonic acidaemia. Diabetologia 1993;36: 352\u20137.","DOI":"10.1007\/BF00400240"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Valerio, G, Franzese, A, Salerno, M, Muzzi, G, Cecere, G, Temple, KI, et al. Beta-cell dysfunction in classic transient neonatal diabetes is characterized by impaired insulin response to glucose but normal response to glucagon. Diabetes Care 2004;27: 2405\u20138.","DOI":"10.2337\/diacare.27.10.2405"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Du, X, Ounissi-Benkalha, H, Loder, MK, Rutter, GA, Polychronakos, C. Overexpression of ZAC impairs glucose-stimulated insulin translation and secretion in clonal pancreatic beta-cells. Diabetes Metab Res Rev 2012;28: 645\u201353.","DOI":"10.1002\/dmrr.2325"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Hoffmann, A, Spengler, D. Role of ZAC1 in transient neonatal diabetes mellitus and glucose metabolism. World J Biol Chem 2015;6: 95\u2013109.","DOI":"10.4331\/wjbc.v6.i3.95"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Hoffmann, A, Spengler, D. Transient neonatal diabetes mellitus gene Zac1 impairs insulin secretion in mice through Rasgrf1. Mol Cell Biol 2012;32: 2549\u201360.","DOI":"10.1128\/MCB.06637-11"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Mackay, DJ, Temple, IK, Shield, JP, Robinson, DO. Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology. Hum Genet 2005;116: 255\u201361.","DOI":"10.1007\/s00439-004-1236-1"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Karges, B, Meissner, T, Icks, A, Kapellen, T, Holl, RW. Management of diabetes mellitus in infants. Nat Rev Endocrinol 2011;8: 201\u201311.","DOI":"10.1038\/nrendo.2011.204"},{"key":"24","doi-asserted-by":"crossref","unstructured":"24. Carmody, D, Beca, FA, Bell, CD, Hwang, JL, Dickens, JT, Devine, NA, et al. Role of noninsulin therapies alone or in combination in chromosome 6q24-related transient neonatal diabetes: sulfonylurea improves but does not always normalize insulin secretion. Diabetes Care 2015;38: e86\u20137.","DOI":"10.2337\/dc14-3056"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Yorifuji, T, Hashimoto, Y, Kawakita, R, Hosokawa, Y, Fujimaru, R, Hatake, K, et al. Relapsing 6q24-related transient neonatal diabetes mellitus successfully treated with a dipeptidyl peptidase-4 inhibitor: a case report. Pediatr Diabetes 2014;15: 606\u201310.","DOI":"10.1111\/pedi.12123"},{"key":"26","doi-asserted-by":"crossref","unstructured":"26. Stanik, J, Dusatkova, P, Cinek, O, Valentinova, L, Huckova, M, Skopkova, M, et al. De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed. Diabetologia 2014;57: 480\u20134.","DOI":"10.1007\/s00125-013-3119-2"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27. Bittencourt, MC, Morris, MA, Chabod, J, Gos, A, Lamy, B, Fellmann, F, et al. Fortuitous detection of uniparental isodisomy of chromosome 6. J Med Genet 1997;34: 77\u20138.","DOI":"10.1136\/jmg.34.1.77"},{"key":"28","doi-asserted-by":"publisher","unstructured":"28. Boonen, SE, Mackay, DJ, Hahnemann, JM, Docherty, L, Gr\u00f8nskov, K, Lehmann, A, et al. Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up. Diabetes Care 2013;36: 505\u201312.","DOI":"10.2337\/dc12-0700"},{"key":"29","doi-asserted-by":"crossref","unstructured":"29. Yorifuji, T, Matsubara, K, Sakakibara, A, Hashimoto, Y, Kawakita, R, Hosokawa, Y, et al. Abnormalities in chromosome 6q24 as a cause of early-onset, non-obese, non-autoimmune diabetes mellitus without history of neonatal diabetes. Diabet Med 2015;32: 963\u20137.","DOI":"10.1111\/dme.12758"}],"container-title":["Clinical Pediatric Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/cpe\/27\/2\/27_2018-0001\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,10,31]],"date-time":"2020-10-31T13:21:44Z","timestamp":1604150504000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/cpe\/27\/2\/27_2018-0001\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"references-count":29,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018]]}},"URL":"https:\/\/doi.org\/10.1297\/cpe.27.59","relation":{},"ISSN":["0918-5739","1347-7358"],"issn-type":[{"value":"0918-5739","type":"print"},{"value":"1347-7358","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018]]}}}