| P50 | author | Graeme I. Bell | Q60572593 |
| P2093 | author name string | Louis H Philipson | |
| | Siri Atma W Greeley | |
| | Rochelle N Naylor | |
| P2860 | cites work | Neonatal Diabetes Mellitus and Neonatal Polycystic, Dysplastic Kidneys: Phenotypically Discordant Recurrence of a Mutation in the Hepatocyte Nuclear Factor-1β Gene Due to Germline Mosaicism | Q21558532 |
| | Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1? in human pancreatic development | Q21558580 |
| | The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy | Q24302959 |
| | Mutations in PTF1A cause pancreatic and cerebellar agenesis | Q24314872 |
| | Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes | Q24338339 |
| | Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM | Q24562990 |
| | Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis | Q24609915 |
| | Intensive blood-glucose control with sulphonylureas or insulin compared with conventional treatment and risk of complications in patients with type 2 diabetes (UKPDS 33). UK Prospective Diabetes Study (UKPDS) Group | Q27860882 |
| | Activating mutations in the ABCC8 gene in neonatal diabetes mellitus | Q27863930 |
| | Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects | Q27865195 |
| | The cell cycle control gene ZAC/PLAGL1 is imprinted--a strong candidate gene for transient neonatal diabetes | Q28143868 |
| | The PERK eukaryotic initiation factor 2 alpha kinase is required for the development of the skeletal system, postnatal growth, and the function and viability of the pancreas | Q28505821 |
| | Diabetes mellitus and exocrine pancreatic dysfunction in perk-/- mice reveals a role for translational control in secretory cell survival | Q28593963 |
| | Genetics of type 1A diabetes | Q30448199 |
| | Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities | Q30474286 |
| | Misfolded proinsulin affects bystander proinsulin in neonatal diabetes | Q33581459 |
| | Entities and frequency of neonatal diabetes: data from the diabetes documentation and quality management system (DPV). | Q33603590 |
| | A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency | Q33688569 |
| | Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention | Q33688645 |
| | In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes | Q33727455 |
| | Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis | Q33733949 |
| | Neonatal diabetes mellitus: a model for personalized medicine | Q34037120 |
| | The cost-effectiveness of personalized genetic medicine: the case of genetic testing in neonatal diabetes | Q34583285 |
| | Transient neonatal diabetes, a disorder of imprinting. | Q35019826 |
| | Pancreatic Duodenal Homeobox (PDX-1) in health and disease | Q35035058 |
| | Aetiopathology and genetic basis of neonatal diabetes | Q35285260 |
| | An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission | Q35295001 |
| | Insulin gene mutations as a cause of permanent neonatal diabetes | Q36002587 |
| | Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus | Q36597501 |
| | Tissue-specific regulation of the insulin gene by a novel basic helix-loop-helix transcription factor | Q36706855 |
| | Reduction of Ptf1a gene dosage causes pancreatic hypoplasia and diabetes in mice | Q36842602 |
| | Islet-specific antibody seroconversion in patients with long duration of permanent neonatal diabetes caused by mutations in the KCNJ11 gene | Q64129281 |
| | Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood | Q64355396 |
| | An imprinted gene(s) for diabetes? | Q72161192 |
| | HLA-DRB1 and DQB1 genotypes in patients with insulin-dependent neonatal diabetes mellitus. A study of 13 cases | Q73085104 |
| | Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes | Q74102330 |
| | Permanent diabetes mellitus in the first year of life | Q74433444 |
| | ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children | Q79525404 |
| | Letter Re: Neonatal diabetes mellitus and mutation in the HNF-1beta gene | Q81316942 |
| | HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months | Q83862323 |
| | Neonatal diabetes in a child positive for islet cell antibodies at onset and Kir6.2 activating mutation | Q84431589 |
| | Diagnosis and treatment of neonatal diabetes: a United States experience | Q36953066 |
| | Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes | Q37022929 |
| | Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes | Q37095214 |
| | Neonatal and late-onset diabetes mellitus caused by failure of pancreatic development: report of 4 more cases and a review of the literature | Q37179921 |
| | Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect | Q37269451 |
| | Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families | Q37417478 |
| | Medicinal chemistry approaches for glucokinase activation to treat type 2 diabetes | Q37595595 |
| | Update in neonatal diabetes | Q37642496 |
| | Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists | Q37656500 |
| | Peroxisome proliferator-activated receptor gamma is a Zac target gene mediating Zac antiproliferation | Q38306388 |
| | Discovery, structure-activity relationships, pharmacokinetics, and efficacy of glucokinase activator (2R)-3-cyclopentyl-2-(4-methanesulfonylphenyl)-N-thiazol-2-yl-propionamide (RO0281675). | Q39712854 |
| | Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted | Q39759180 |
| | Genetic, metabolic and clinical characteristics of maturity onset diabetes of the young. | Q41737246 |
| | Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy | Q42437724 |
| | A murine model of neonatal diabetes mellitus in Glis3-deficient mice | Q42454563 |
| | Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin | Q42994252 |
| | A small-molecule glucokinase activator lowers blood glucose in the sulfonylurea-desensitized rat. | Q43064519 |
| | Mutations in hepatocyte nuclear factor-1beta and their related phenotypes | Q43167987 |
| | Neonatal diabetes mellitus due to complete glucokinase deficiency | Q43616701 |
| | Dominant negative pathogenesis by mutant proinsulin in the Akita diabetic mouse | Q44286381 |
| | Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers | Q44560854 |
| | Misfolded proinsulin accumulates in expanded pre-Golgi intermediates and endoplasmic reticulum subdomains in pancreatic beta cells of Akita mice | Q44807384 |
| | 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 | Q45006049 |
| | High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation | Q45285781 |
| | Glibenclamide treatment in relapsed transient neonatal diabetes as a result of a KCNJ11 activating mutation (N48D). | Q45914719 |
| | Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. | Q45982681 |
| | Familial permanent neonatal diabetes with KCNJ11 mutation and the response to glyburide therapy--a three-year follow-up. | Q46314005 |
| | Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections | Q46545702 |
| | Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation. | Q46728079 |
| | Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes | Q46810133 |
| | Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group | Q46825878 |
| | Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations | Q46891680 |
| | Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11. | Q46914816 |
| | Sulphonylurea treatment does not improve psychomotor development in children with KCNJ11 mutations causing permanent neonatal diabetes mellitus accompanied by developmental delay and epilepsy (DEND syndrome). | Q46987549 |
| | Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. | Q48087598 |
| | A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation. | Q48495705 |
| | KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features | Q48557897 |
| | A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus | Q48561080 |
| | Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. | Q50646471 |
| | Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay. | Q51917568 |
| | Molecular basis of neonatal diabetes in Japanese patients. | Q51980698 |
| | Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood | Q55671354 |
| | Dominant-Negative Effects of a Novel Mutated Ins2 Allele Causes Early-Onset Diabetes and Severe -Cell Loss in Munich Ins2C95S Mutant Mice | Q57198017 |
| | Glibenclamide controls ketosis-prone diabetes in a 38-year-old woman with Kir6.2 mutation | Q57917228 |
| | Genetic Testing in Diabetes Mellitus | Q57929285 |
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | pathophysiology | Q1135939 |
| | neonatal diabetes mellitus | Q2898645 |
| P304 | page(s) | 158-69 | |
| P577 | publication date | 2011-06-05 | |
| P1433 | published in | Journal of Diabetes Investigation | Q28207066 |
| P1476 | title | Genetics and pathophysiology of neonatal diabetes mellitus | |
| P478 | volume | 2 | |