{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T11:55:52Z","timestamp":1791114952777,"version":"4.1.0"},"reference-count":95,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2008,2,1]],"date-time":"2008-02-01T00:00:00Z","timestamp":1201824000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2008,2,1]],"date-time":"2008-02-01T00:00:00Z","timestamp":1201824000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Best Practice &amp; Research Clinical Endocrinology &amp; Metabolism"],"published-print":{"date-parts":[[2008,2]]},"DOI":"10.1016\/j.beem.2007.08.003","type":"journal-article","created":{"date-parts":[[2008,3,3]],"date-time":"2008-03-03T15:34:28Z","timestamp":1204558468000},"page":"17-40","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":15,"title":["Neonatal hyperglycaemia and abnormal development of the pancreas"],"prefix":"10.1016","volume":"22","author":[{"given":"Isabelle","family":"Flechtner","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Vaxillaire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Cav\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raphael","family":"Scharfmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Froguel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Polak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.beem.2007.08.003_bib1","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1056\/NEJM199509143331105","article-title":"Long-term course of neonatal diabetes","volume":"333","author":"Von M\u00fchlendahl","year":"1995","journal-title":"N Engl J Med"},{"issue":"1","key":"10.1016\/j.beem.2007.08.003_bib2","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/S1084-2756(03)00064-2","article-title":"Neonatal and very-early-onset diabetes mellitus","volume":"9","author":"Polak","year":"2004","journal-title":"Semin Neonatol"},{"key":"10.1016\/j.beem.2007.08.003_bib3","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1136\/adc.45.239.80","article-title":"Transient neonatal diabetes mellitus in sibs","volume":"45","author":"Ferguson","year":"1970","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.beem.2007.08.003_bib4","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1007\/BF01958635","article-title":"Transient and permanent neonatal diabetes","volume":"154","author":"F\u00f6sel","year":"1995","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.beem.2007.08.003_bib5","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1136\/adc.72.1.56","article-title":"Transient neonatal diabetes and later onset diabetes: a case of inherited insulin resistance","volume":"72","author":"Shield","year":"1995","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.beem.2007.08.003_bib6","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1067\/mpd.2002.127089","article-title":"Neonatal Diabetes Mellitus: chromosomal analysis in transient and permanent cases","volume":"141","author":"Metz","year":"2002","journal-title":"J Pediatr"},{"key":"10.1016\/j.beem.2007.08.003_bib7","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.2337\/diabetes.49.8.1359","article-title":"Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes","volume":"49","author":"Temple","year":"2000","journal-title":"Diabetes"},{"key":"10.1016\/j.beem.2007.08.003_bib8","doi-asserted-by":"crossref","first-page":"F341","DOI":"10.1136\/adc.2003.030502","article-title":"An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission","volume":"89","author":"Shield","year":"2004","journal-title":"Arch Dis Child Fetal Neonatal Ed"},{"key":"10.1016\/j.beem.2007.08.003_bib9","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1034\/j.1399-0039.2000.560303.x","article-title":"HLA-DRB1 and DQB1 genotypes in patients with insulin-dependent neonatal diabetes mellitus. A study of 13 cases","volume":"56","author":"Marquis","year":"2000","journal-title":"Tissue Antigens"},{"key":"10.1016\/j.beem.2007.08.003_bib10","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1007\/s00125-002-0837-2","article-title":"Permanent diabetes mellitus in the first year of life","volume":"45","author":"Iafusco","year":"2002","journal-title":"Diabetologia"},{"key":"10.1016\/j.beem.2007.08.003_bib11","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1038\/ng0295-110","article-title":"An imprinted gene(s) for diabetes?","volume":"9","author":"Temple","year":"1995","journal-title":"Nat Genet."},{"key":"10.1016\/j.beem.2007.08.003_bib12","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/S0022-3476(99)70370-7","article-title":"Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus","volume":"134","author":"Christian","year":"1999","journal-title":"J Pediatr"},{"key":"10.1016\/j.beem.2007.08.003_bib13","doi-asserted-by":"crossref","first-page":"108","DOI":"10.2337\/diabetes.49.1.108","article-title":"Refinement of the 6q chromosomal region implicated in transient neonatal diabetes","volume":"49","author":"Cave","year":"2000","journal-title":"Diabetes"},{"key":"10.1016\/j.beem.2007.08.003_bib14","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1093\/hmg\/5.8.1117","article-title":"Further evidence for an imprinted gene for neonatal diabetes localized to chromosome 6q22-23","volume":"5","author":"Temple","year":"1996","journal-title":"Human Mol Genet"},{"key":"10.1016\/j.beem.2007.08.003_bib15","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1093\/hmg\/9.4.589","article-title":"An imprinted locus associated with transient neonatal diabetes mellitus","volume":"9","author":"Gardner","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.beem.2007.08.003_bib16","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1093\/hmg\/10.14.1475","article-title":"A conserved imprinting control region at the HYMAI\/ZAC domain is implicated in transient neonatal diabetes mellitus","volume":"10","author":"Arima","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.beem.2007.08.003_bib17","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1172\/JCI200419876","article-title":"Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM","volume":"114","author":"Ma","year":"2004","journal-title":"J Clin Invest"},{"key":"10.1016\/j.beem.2007.08.003_bib18","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1007\/s00439-006-0205-2","article-title":"A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus","volume":"120","author":"Mackay","year":"2006","journal-title":"Hum Genet."},{"issue":"21","key":"10.1016\/j.beem.2007.08.003_bib19","doi-asserted-by":"crossref","first-page":"2699","DOI":"10.2174\/1381612054546879","article-title":"Insulin secretagogues, sulfonylurea receptors and K(ATP) channels","volume":"11","author":"Bryan","year":"2005","journal-title":"Curr Pharm Des"},{"issue":"5","key":"10.1016\/j.beem.2007.08.003_bib20","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1016\/S0896-6273(00)80124-5","article-title":"A family of sulfonylurea receptors determines the pharmacological properties of ATP-sensitive K+ channels","volume":"16","author":"Inagaki","year":"1996","journal-title":"Neuron"},{"issue":"40","key":"10.1016\/j.beem.2007.08.003_bib21","doi-asserted-by":"crossref","first-page":"24321","DOI":"10.1074\/jbc.271.40.24321","article-title":"A novel sulfonylurea receptor forms with BIR (Kir6.2) a smooth muscle type ATP-sensitive K+ channel","volume":"271","author":"Isomoto","year":"1996","journal-title":"J Biol Chem"},{"issue":"5239","key":"10.1016\/j.beem.2007.08.003_bib22","doi-asserted-by":"crossref","first-page":"1166","DOI":"10.1126\/science.270.5239.1166","article-title":"Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor","volume":"270","author":"Inagaki","year":"1995","journal-title":"Science"},{"issue":"Pt 3","key":"10.1016\/j.beem.2007.08.003_bib23","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1111\/j.1469-7793.2000.00509.x","article-title":"Regulation of glucagon release in mouse -cells by KATP channels and inactivation of TTX-sensitive Na+ channels","volume":"528","author":"Gopel","year":"2000","journal-title":"J Physiol"},{"issue":"Pt 3","key":"10.1016\/j.beem.2007.08.003_bib24","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1111\/j.1469-7793.2000.00497.x","article-title":"Patch-clamp characterisation of somatostatin-secreting -cells in intact mouse pancreatic islets","volume":"528","author":"Gopel","year":"2000","journal-title":"J Physiol"},{"issue":"5","key":"10.1016\/j.beem.2007.08.003_bib25","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.2337\/diabetes.52.5.1147","article-title":"A novel glucose-sensing mechanism contributing to glucagon-like peptide-1 secretion from the GLUTag cell line","volume":"52","author":"Gribble","year":"2003","journal-title":"Diabetes"},{"issue":"5209","key":"10.1016\/j.beem.2007.08.003_bib26","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1126\/science.7716547","article-title":"Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion","volume":"268","author":"Aguilar-Bryan","year":"1995","journal-title":"Science"},{"key":"10.1016\/j.beem.2007.08.003_bib27","doi-asserted-by":"crossref","first-page":"1838","DOI":"10.1056\/NEJMoa032922","article-title":"Activating mutations in the gene encoding the ATP-sensitive potassium channel subunit Kir6.2 gene are associated and permanent neonatal diabetes","volume":"350","author":"Gloyn","year":"2004","journal-title":"N Engl J Med"},{"issue":"1","key":"10.1016\/j.beem.2007.08.003_bib28","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1679\/aohc.64.59","article-title":"Morphological changes in pancreatic islets of KATP channel-deficient mice: the involvement of KATP channels in the survival of insulin cells and the maintenance of islet architecture","volume":"64","author":"Winarto","year":"2001","journal-title":"Arch Histol Cytol"},{"issue":"Suppl. 1","key":"10.1016\/j.beem.2007.08.003_bib29","doi-asserted-by":"crossref","first-page":"S48","DOI":"10.2337\/diabetes.50.2007.S48","article-title":"Roles of ATP-sensitive K+ channels in cell survival and differentiation in the endocrine pancreas","volume":"50","author":"Miki","year":"2001","journal-title":"Diabetes"},{"issue":"Pt 2","key":"10.1016\/j.beem.2007.08.003_bib30","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1113\/jphysiol.2003.047175","article-title":"Gene targeting approach to clarification of ion channel function: studies of Kir6.x null mice","volume":"554","author":"Seino","year":"2004","journal-title":"J Physiol"},{"issue":"1-2","key":"10.1016\/j.beem.2007.08.003_bib31","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/S0006-8993(98)00956-1","article-title":"Distribution and phenotype of neurons containing the ATP-sensitive K+ channel in rat brain","volume":"814","author":"Dunn-Meynell","year":"1998","journal-title":"Brain Res"},{"issue":"6","key":"10.1016\/j.beem.2007.08.003_bib32","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1016\/j.yjmcc.2004.11.020","article-title":"Neuroprotection by KATP channels","volume":"38","author":"Yamada","year":"2005","journal-title":"J Mol Cell Cardiol"},{"key":"10.1016\/j.beem.2007.08.003_bib33","first-page":"127","article-title":"ATP-sensitive K(+) channels in the brain: sensors of hypoxic conditions","volume":"17","author":"Yamada","year":"2002","journal-title":"News Physiol Sci"},{"issue":"5","key":"10.1016\/j.beem.2007.08.003_bib34","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1038\/87455","article-title":"ATP-sensitive K+ channels in the hypothalamus are essential for the maintenance of glucose homeostasis","volume":"4","author":"Miki","year":"2001","journal-title":"Nat Neurosci"},{"issue":"4","key":"10.1016\/j.beem.2007.08.003_bib35","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1016\/j.physbeh.2006.01.013","article-title":"Behavioral phenotyping of mice lacking the K ATP channel subunit Kir6.2","volume":"87","author":"Deacon","year":"2006","journal-title":"Physiol Behav"},{"issue":"6","key":"10.1016\/j.beem.2007.08.003_bib36","doi-asserted-by":"crossref","first-page":"C1464","DOI":"10.1152\/ajpcell.00278.2003","article-title":"KATP channels depress force by reducing action potential amplitude in mouse EDL and soleus muscle","volume":"285","author":"Gong","year":"2003","journal-title":"Am J Physiol Cell Physiol"},{"issue":"20","key":"10.1016\/j.beem.2007.08.003_bib37","doi-asserted-by":"crossref","first-page":"13278","DOI":"10.1073\/pnas.212315199","article-title":"Kir6.2 is required for adaptation to stress","volume":"99","author":"Zingman","year":"2002","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"4","key":"10.1016\/j.beem.2007.08.003_bib38","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1152\/physrev.1997.77.4.1165","article-title":"ATP-sensitive and inwardly rectifying potassium channels in smooth muscle","volume":"77","author":"Quayle","year":"1997","journal-title":"Physiol Rev"},{"issue":"6","key":"10.1016\/j.beem.2007.08.003_bib39","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1016\/S0092-8674(00)80701-1","article-title":"Targeted overactivity of beta cell K(ATP) channels induces profound neonatal diabetes","volume":"100","author":"Koster","year":"2000","journal-title":"Cell"},{"issue":"2","key":"10.1016\/j.beem.2007.08.003_bib40","doi-asserted-by":"crossref","first-page":"568","DOI":"10.2337\/diabetes.52.2.568","article-title":"Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes","volume":"52","author":"Gloyn","year":"2003","journal-title":"Diabetes"},{"issue":"5","key":"10.1016\/j.beem.2007.08.003_bib41","doi-asserted-by":"crossref","first-page":"1360","DOI":"10.2337\/diabetes.53.5.1360","article-title":"Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region","volume":"53","author":"Florez","year":"2004","journal-title":"Diabetes"},{"issue":"9","key":"10.1016\/j.beem.2007.08.003_bib42","doi-asserted-by":"crossref","first-page":"2854","DOI":"10.2337\/diabetes.51.9.2854","article-title":"The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.2) gene is associated with impaired glucagon suppression in response to hyperglycemia","volume":"51","author":"Tschritter","year":"2002","journal-title":"Diabetes"},{"key":"10.1016\/j.beem.2007.08.003_bib43","doi-asserted-by":"crossref","first-page":"2719","DOI":"10.2337\/diabetes.53.10.2719","article-title":"Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients","volume":"53","author":"Vaxillaire","year":"2004","journal-title":"Diabetes"},{"issue":"1","key":"10.1016\/j.beem.2007.08.003_bib44","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/humu.20124","article-title":"KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes","volume":"25","author":"Massa","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1016\/j.beem.2007.08.003_bib45","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1093\/hmg\/ddi086","article-title":"Relapsing diabetes can result from moderately activating mutations in KCNJ11","volume":"14","author":"Gloyn","year":"2005","journal-title":"Hum Mol Genet"},{"issue":"8","key":"10.1016\/j.beem.2007.08.003_bib46","doi-asserted-by":"crossref","first-page":"3932","DOI":"10.1210\/jc.2004-0568","article-title":"Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel","volume":"89","author":"Gloyn","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"issue":"50","key":"10.1016\/j.beem.2007.08.003_bib47","doi-asserted-by":"crossref","first-page":"17539","DOI":"10.1073\/pnas.0404756101","article-title":"Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features","volume":"101","author":"Proks","year":"2004","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"2","key":"10.1016\/j.beem.2007.08.003_bib48","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1038\/sj.emboj.7600487","article-title":"Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit","volume":"24","author":"Antcliff","year":"2005","journal-title":"Embo J"},{"issue":"Pt 1","key":"10.1016\/j.beem.2007.08.003_bib49","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1113\/jphysiol.2003.048843","article-title":"Molecular mechanism for ATP-dependent closure of the K+ channel Kir6.2","volume":"552","author":"John","year":"2003","journal-title":"J Physiol"},{"issue":"1","key":"10.1016\/j.beem.2007.08.003_bib50","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1016\/S0006-3495(03)74847-4","article-title":"Molecular basis for Kir6.2 channel inhibition by adenine nucleotides","volume":"84","author":"Ribalet","year":"2003","journal-title":"Biophys J"},{"issue":"11","key":"10.1016\/j.beem.2007.08.003_bib51","doi-asserted-by":"crossref","first-page":"2439","DOI":"10.1007\/s00125-005-1958-1","article-title":"Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation","volume":"48","author":"Colombo","year":"2005","journal-title":"Diabetologia"},{"issue":"Pt 1","key":"10.1016\/j.beem.2007.08.003_bib52","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1113\/jphysiol.2005.099168","article-title":"Functional effects of naturally occurring KCNJ11 mutations causing neonatal diabetes on cloned cardiac KATP channels","volume":"571","author":"Tammaro","year":"2006","journal-title":"J Physiol"},{"issue":"9","key":"10.1016\/j.beem.2007.08.003_bib53","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.2337\/diabetes.47.9.1412","article-title":"Tissue specificity of sulfonylureas: studies on cloned cardiac and beta-cell K(ATP) channels","volume":"47","author":"Gribble","year":"1998","journal-title":"Diabetes"},{"key":"10.1016\/j.beem.2007.08.003_bib54","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1056\/NEJMoa055068","article-title":"Activating Mutations in ABCC8 gene in neonatal diabetes mellitus","volume":"355","author":"Babenko","year":"2006","journal-title":"N Engl J Med"},{"issue":"4","key":"10.1016\/j.beem.2007.08.003_bib55","doi-asserted-by":"crossref","first-page":"1276","DOI":"10.1210\/jc.2006-2490","article-title":"Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers","volume":"92","author":"Stanik","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2007.08.003_bib56","doi-asserted-by":"crossref","first-page":"1930","DOI":"10.2337\/db07-0043","article-title":"Mutations in KATP channel genes cause transient neonatal diabetes and permanent diabetes in childhood and adulthood","volume":"56","author":"Flanagan","year":"2007","journal-title":"Diabetes"},{"key":"10.1016\/j.beem.2007.08.003_bib57","doi-asserted-by":"crossref","first-page":"1737","DOI":"10.2337\/db06-1540","article-title":"New ABCC8 mutations in relapsing neonatal diabetes and clinical features","volume":"56","author":"Vaxillaire","year":"2007","journal-title":"Diabetes"},{"key":"10.1016\/j.beem.2007.08.003_bib58","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1038\/371606a0","article-title":"Insulin-promoter-factor 1 is required for pancreas development in mice","volume":"371","author":"Jonsson","year":"1994","journal-title":"Nature"},{"key":"10.1016\/j.beem.2007.08.003_bib59","doi-asserted-by":"crossref","first-page":"31555","DOI":"10.1074\/jbc.R000016200","article-title":"Glucose regulation of gene transcription","volume":"275","author":"Vaulont","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1016\/j.beem.2007.08.003_bib60","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1038\/ng0197-106","article-title":"Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF-1 coding sequence","volume":"15","author":"Stoffers","year":"1997","journal-title":"Nat Genet"},{"key":"10.1016\/j.beem.2007.08.003_bib61","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1172\/JCI2242","article-title":"Insulin Promoter Factor-1 gene mutation linked to early onset type 2 diabetes mellitus directs expression of dominant negative isoprotein","volume":"102","author":"Stoffers","year":"1998","journal-title":"J Clin Invest"},{"key":"10.1016\/j.beem.2007.08.003_bib62","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1136\/jmg.36.9.700","article-title":"Neonatal diabetes mellitus and cerebellar hypoplasia\/agenesis: report of a new recessive syndrome","volume":"36","author":"Hoveyda","year":"1999","journal-title":"J Med Genet"},{"key":"10.1016\/j.beem.2007.08.003_bib63","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1038\/ng1475","article-title":"et al Mutations in PTF1A cause pancreatic and cerebellar agenesis","volume":"36","author":"Sellick","year":"2004","journal-title":"Nat Genet"},{"key":"10.1016\/j.beem.2007.08.003_bib64","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1111\/j.1399-543X.2005.00114.x","article-title":"Unusual case of neonatal diabetes mellitus due to congenital pancreas agenesis","volume":"6","author":"Ashraf","year":"2005","journal-title":"Pediatric diabetes"},{"key":"10.1016\/j.beem.2007.08.003_bib65","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1530\/eje.0.1380233","article-title":"Genetic, metabolic and clinical characteristics of maturity onset diabetes of the young","volume":"138","author":"Velho","year":"1998","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.beem.2007.08.003_bib66","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1056\/NEJM200105243442104","article-title":"Neonatal diabetes mellitus due to complete glucokinase deficiency","volume":"344","author":"Njolstad","year":"2001","journal-title":"N Engl J Med"},{"key":"10.1016\/j.beem.2007.08.003_bib67","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1007\/s00125-001-0746-9","article-title":"Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes","volume":"45","author":"Gloyn","year":"2002","journal-title":"Diabetologia"},{"key":"10.1016\/j.beem.2007.08.003_bib68","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1007\/s00125-001-0741-1","article-title":"Glucokinase gene mutations are not a common cause of permanent neonatal diabetes in France","volume":"45","author":"Vaxillaire","year":"2002","journal-title":"Diabetologia"},{"key":"10.1016\/j.beem.2007.08.003_bib69","doi-asserted-by":"crossref","first-page":"F195","DOI":"10.1136\/fn.74.3.F195","article-title":"X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea","volume":"74","author":"Peake","year":"1996","journal-title":"Arch Dis Child Fetal Neonatal Ed"},{"key":"10.1016\/j.beem.2007.08.003_bib70","doi-asserted-by":"crossref","first-page":"477","DOI":"10.3109\/15513819509026984","article-title":"Neonatal diabetes mellitus associated with severe diarrhoea, hyperimmunoglobulin E syndrome, and absence of islets of Langerhans","volume":"15","author":"Roberts","year":"1995","journal-title":"Pediat Pathol Lab Med"},{"key":"10.1016\/j.beem.2007.08.003_bib71","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1007\/BF01956741","article-title":"A Japanese family of X-linked auto-imune enteropathy with haemolytic anaemia and polyendocrinopathy","volume":"152","author":"Satake","year":"1993","journal-title":"Eur J Pediat"},{"key":"10.1016\/j.beem.2007.08.003_bib72","doi-asserted-by":"crossref","first-page":"1758","DOI":"10.1056\/NEJM200106073442304","article-title":"Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation","volume":"344","author":"Baud","year":"2001","journal-title":"New Eng J Med"},{"key":"10.1016\/j.beem.2007.08.003_bib73","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1038\/83713","article-title":"The immune dysregulation, poly-endocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3","volume":"27","author":"Bennett","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.beem.2007.08.003_bib74","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/83784","article-title":"Disruption of a new forkhead\/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse","volume":"27","author":"Brunkow","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.beem.2007.08.003_bib75","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/S0022-3476(72)80596-1","article-title":"Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia","volume":"80","author":"Wolcott","year":"1972","journal-title":"J Pediatr"},{"key":"10.1016\/j.beem.2007.08.003_bib76","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1038\/78085","article-title":"EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome","volume":"25","author":"Delepine","year":"2000","journal-title":"Nat Genet"},{"key":"10.1016\/j.beem.2007.08.003_bib77","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1016\/S1097-2765(00)80330-5","article-title":"Perk is essential for translational regulation and cell survival during unfolded protein response","volume":"5","author":"Harding","year":"2000","journal-title":"Mol Cell"},{"key":"10.1016\/j.beem.2007.08.003_bib78","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1016\/j.cmet.2006.11.002","article-title":"PERK EIF2AK3 control pancreatic beta cell differentiation and proliferation is required for postnatal glucose homeostasis","volume":"4","author":"Zhang","year":"2006","journal-title":"Cell Metabolism"},{"key":"10.1016\/j.beem.2007.08.003_bib79","doi-asserted-by":"crossref","first-page":"1153","DOI":"10.1016\/S1097-2765(01)00264-7","article-title":"Diabetes mellitus and exocrine pancreatic dysfunction in perk-\/- mice reveals a role for translational control in secretory cell survival","volume":"7","author":"Harding","year":"2001","journal-title":"Mol Cell"},{"key":"10.1016\/j.beem.2007.08.003_bib80","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1016\/0140-6736(92)93202-X","article-title":"Distinct neurological syndrome in two brothers with hyperuricaemia","volume":"340","author":"Christen","year":"1992","journal-title":"Lancet"},{"key":"10.1016\/j.beem.2007.08.003_bib81","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1136\/jmg.31.4.331","article-title":"Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome?","volume":"31","author":"Yorifuji","year":"1994","journal-title":"J Med Genet"},{"key":"10.1016\/j.beem.2007.08.003_bib82","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1038\/ng1802","article-title":"Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism","volume":"38","author":"Senee","year":"2006","journal-title":"Nat Genet"},{"key":"10.1016\/j.beem.2007.08.003_bib83","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1007\/s001250051518","article-title":"Neonatal type 1 diabetes associated with maternal echovirus 6 infection: a case report","volume":"43","author":"Otonkoski","year":"2000","journal-title":"Diabetologia"},{"issue":"Suppl. 3","key":"10.1016\/j.beem.2007.08.003_bib84","doi-asserted-by":"crossref","first-page":"S48","DOI":"10.2337\/diabetes.53.suppl_3.S48","article-title":"Pathways in beta-cell stimulus-secretion coupling as targets for therapeutic insulin secretagogues","volume":"53","author":"Henquin","year":"2004","journal-title":"Diabetes"},{"issue":"7","key":"10.1016\/j.beem.2007.08.003_bib85","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1007\/s001250051236","article-title":"Differential sensitivity of beta-cell and extrapancreatic K(ATP) channels to gliclazide","volume":"42","author":"Gribble","year":"1999","journal-title":"Diabetologia"},{"issue":"Pt 1","key":"10.1016\/j.beem.2007.08.003_bib86","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1111\/j.1469-7793.1997.00035.x","article-title":"The interaction of nucleotides with the tolbutamide block of cloned ATP-sensitive K+ channel currents expressed in Xenopus oocytes: a reinterpretation","volume":"504","author":"Gribble","year":"1997","journal-title":"J Physiol"},{"issue":"Suppl. 1","key":"10.1016\/j.beem.2007.08.003_bib87","doi-asserted-by":"crossref","first-page":"S75","DOI":"10.1016\/j.diabres.2003.12.011","article-title":"Sulfonylurea and non-sulfonylurea hypoglycemic agents: pharmachological properties and tissue selectivity","volume":"66","author":"Nagashima","year":"2004","journal-title":"Diabetes Res Clin Pract"},{"issue":"11","key":"10.1016\/j.beem.2007.08.003_bib88","doi-asserted-by":"crossref","first-page":"5504","DOI":"10.1210\/jc.2004-1241","article-title":"Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2","volume":"89","author":"Zung","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"issue":"3","key":"10.1016\/j.beem.2007.08.003_bib89","doi-asserted-by":"crossref","first-page":"758","DOI":"10.2337\/diacare.28.3.758","article-title":"High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation","volume":"28","author":"Codner","year":"2005","journal-title":"Diabetes Care"},{"key":"10.1016\/j.beem.2007.08.003_bib90","doi-asserted-by":"crossref","first-page":"2713","DOI":"10.2337\/diabetes.53.10.2713","article-title":"Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy","volume":"53","author":"Sagen","year":"2004","journal-title":"Diabetes"},{"issue":"5","key":"10.1016\/j.beem.2007.08.003_bib91","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1007\/s00125-005-1731-5","volume":"48","author":"Klupa","year":"2005","journal-title":"Diabetologia"},{"key":"10.1016\/j.beem.2007.08.003_bib92","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1056\/NEJMoa061759","article-title":"Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations","volume":"355","author":"Pearson","year":"2006","journal-title":"N Engl J Med"},{"issue":"1","key":"10.1016\/j.beem.2007.08.003_bib93","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1210\/jc.2004-0699","article-title":"Sulfonylurea induced beta-cell apoptosis in cultured human islets","volume":"90","author":"Maedler","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"issue":"9","key":"10.1016\/j.beem.2007.08.003_bib94","doi-asserted-by":"crossref","first-page":"1733","DOI":"10.1016\/j.bcp.2004.01.016","article-title":"Beta-cell toxicity of ATP-sensitive K+ channel-blocking insulin secretagogues","volume":"67","author":"Rustenbeck","year":"2004","journal-title":"Biochem Pharmacol"},{"key":"10.1016\/j.beem.2007.08.003_bib95","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/S0022-3476(96)70406-7","article-title":"Ultralente insulin treatment of transient neonatal diabetes mellitus","volume":"128","author":"Mitamura","year":"1996","journal-title":"J Pediatr"}],"container-title":["Best Practice &amp; Research Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X07000802?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X07000802?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T16:39:35Z","timestamp":1761496775000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521690X07000802"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2]]},"references-count":95,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2008,2]]}},"alternative-id":["S1521690X07000802"],"URL":"https:\/\/doi.org\/10.1016\/j.beem.2007.08.003","relation":{},"ISSN":["1521-690X"],"issn-type":[{"value":"1521-690X","type":"print"}],"subject":[],"published":{"date-parts":[[2008,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Neonatal hyperglycaemia and abnormal development of the pancreas","name":"articletitle","label":"Article Title"},{"value":"Best Practice & Research Clinical Endocrinology & Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.beem.2007.08.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2007 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}