| scholarly article | Q13442814 |
| P50 | author | Valerie M Schwitzgebel | Q89837597 |
| P2093 | author name string | Valerie M Schwitzgebel | |
| 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 |
| Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function | Q21558622 | ||
| Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction | Q21558630 | ||
| A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome) | Q22003951 | ||
| A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis | Q22008477 | ||
| Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus | Q22010745 | ||
| HNF1alpha controls renal glucose reabsorption in mouse and man. | Q24290983 | ||
| PAX6 mutation as a genetic factor common to aniridia and glucose intolerance | Q24292062 | ||
| Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations | Q24294715 | ||
| Rfx6 directs islet formation and insulin production in mice and humans | Q24298978 | ||
| A structurally abnormal insulin causing human diabetes | Q24299942 | ||
| Polymorphic variations in the neurogenic differentiation-1, neurogenin-3, and hepatocyte nuclear factor-1alpha genes contribute to glucose intolerance in a South Indian population | Q24300090 | ||
| Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene | Q24300493 | ||
| Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence | Q24311830 | ||
| An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains | Q24313206 | ||
| A mutation in the Glut2 glucose transporter gene of a diabetic patient abolishes transport activity | Q24313565 | ||
| Diabetes, defective pancreatic morphogenesis, and abnormal enteroendocrine differentiation in BETA2/neuroD-deficient mice | Q24314353 | ||
| Mutations in PTF1A cause pancreatic and cerebellar agenesis | Q24314872 | ||
| Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction | Q24323297 | ||
| Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes | Q24338339 | ||
| The bHLH protein PTF1-p48 is essential for the formation of the exocrine and the correct spatial organization of the endocrine pancreas | Q24595606 | ||
| Control of pancreas and liver gene expression by HNF transcription factors | Q24618003 | ||
| Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes | Q24632382 | ||
| neurogenin3 is required for the development of the four endocrine cell lineages of the pancreas | Q24647944 | ||
| The maturity-onset diabetes of the young (MODY1) transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolism | Q24654815 | ||
| Sirtuins as regulators of metabolism and healthspan | Q26828939 | ||
| Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia | Q44005438 | ||
| Foxp3 programs the development and function of CD4+CD25+ regulatory T cells | Q27860714 | ||
| Activating mutations in the ABCC8 gene in neonatal diabetes mellitus | Q27863930 | ||
| Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness | Q28138591 | ||
| Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome | Q28142013 | ||
| EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome | Q28142981 | ||
| Genetic cause of hyperglycaemia and response to treatment in diabetes | Q28212185 | ||
| Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity | Q28268714 | ||
| New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk | Q28270700 | ||
| Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome | Q28297932 | ||
| Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1) | Q28298538 | ||
| Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus | Q28306503 | ||
| Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene | Q28469173 | ||
| Laron dwarfism and non-insulin-dependent diabetes mellitus in the Hnf-1alpha knockout mouse | Q28512187 | ||
| Glucokinase is the likely mediator of glucosensing in both glucose-excited and glucose-inhibited central neurons | Q28570095 | ||
| Selective deletion of the Hnf1beta (MODY5) gene in beta-cells leads to altered gene expression and defective insulin release | Q28586448 | ||
| Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion | Q28589308 | ||
| Defective insulin secretion in hepatocyte nuclear factor 1alpha-deficient mice | Q28589645 | ||
| Sequence, tissue distribution, and chromosomal localization of mRNA encoding a human glucose transporter-like protein | Q28610076 | ||
| An essential role for Scurfin in CD4+CD25+ T regulatory cells | Q29618395 | ||
| The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 | Q29619324 | ||
| Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities | Q30474286 | ||
| Rfx6 is an Ngn3-dependent winged helix transcription factor required for pancreatic islet cell development | Q30492569 | ||
| Clinical heterogeneity in monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY). | Q33602180 | ||
| Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis | Q33733949 | ||
| GATA6 haploinsufficiency causes pancreatic agenesis in humans | Q33775747 | ||
| A mutation in the insulin 2 gene induces diabetes with severe pancreatic beta-cell dysfunction in the Mody mouse | Q33834161 | ||
| A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta | Q33873845 | ||
| Mutations in the coding region of the neurogenin 3 gene (NEUROG3) are not a common cause of maturity-onset diabetes of the young in Japanese subjects | Q33937730 | ||
| PERK (EIF2AK3) regulates proinsulin trafficking and quality control in the secretory pathway | Q34024253 | ||
| Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. | Q34040436 | ||
| Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations | Q34084456 | ||
| Effects of MK-0941, a novel glucokinase activator, on glycemic control in insulin-treated patients with type 2 diabetes | Q34223737 | ||
| Genetic analysis reveals that PAX6 is required for normal transcription of pancreatic hormone genes and islet development | Q44055107 | ||
| Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene | Q44062484 | ||
| Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes. | Q44085507 | ||
| Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. | Q44582527 | ||
| Disruption of the WFS1 gene in mice causes progressive beta-cell loss and impaired stimulus-secretion coupling in insulin secretion | Q44824148 | ||
| Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes | Q45258087 | ||
| SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. | Q46066743 | ||
| Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young | Q46083091 | ||
| A case of novel de novo paired box gene 6 (PAX6) mutation with early-onset diabetes mellitus and aniridia | Q46447222 | ||
| Increased dosage of mammalian Sir2 in pancreatic beta cells enhances glucose-stimulated insulin secretion in mice | Q46649057 | ||
| Mice conditionally lacking the Wolfram gene in pancreatic islet beta cells exhibit diabetes as a result of enhanced endoplasmic reticulum stress and apoptosis | Q46744627 | ||
| Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11. | Q46914816 | ||
| Pancreas dorsal lobe agenesis and abnormal islets of Langerhans in Hlxb9-deficient mice | Q47932670 | ||
| Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. | Q48041792 | ||
| Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome | Q48043093 | ||
| Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3) | Q48056898 | ||
| Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. | Q48087598 | ||
| BETA2 activates transcription from the upstream glucokinase gene promoter in islet beta-cells and gut endocrine cells | Q48404037 | ||
| A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement | Q49058323 | ||
| Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. | Q50646471 | ||
| A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: a case report. | Q51023251 | ||
| Lipoprotein composition in HNF1A-MODY: differentiating between HNF1A-MODY and type 2 diabetes. | Q51360590 | ||
| Familial hyperinsulinemia due to a structurally abnormal insulin. Definition of an emerging new clinical syndrome. | Q51642513 | ||
| Novel GLIS3 mutations demonstrate an extended multisystem phenotype. | Q51893971 | ||
| Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesis | Q51899509 | ||
| PERK EIF2AK3 control of pancreatic beta cell differentiation and proliferation is required for postnatal glucose homeostasis. | Q52000258 | ||
| A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS). | Q53144464 | ||
| Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1. | Q54542827 | ||
| DIABETES MELLITUS AND HEREDITY | Q55430139 | ||
| PAX4 mutations in Thais with maturity onset diabetes of the young | Q55670529 | ||
| 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 | ||
| GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes | Q57249534 | ||
| Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations | Q57915581 | ||
| The Pax4 gene is essential for differentiation of insulin-producing β cells in the mammalian pancreas | Q59069706 | ||
| Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes | Q61647781 | ||
| A Difference Between the Inheritance of Classical Juvenile-onset and Maturity-onset Type Diabetes of Young People | Q66918191 | ||
| Is maturity onset diabetes at young age (MODY) more common in Europe than previously assumed? | Q72648790 | ||
| Early-onset type-II diabetes mellitus (MODY4) linked to IPF1 | Q73777239 | ||
| Genotype/phenotype relationships in HNF-4alpha/MODY1: haploinsufficiency is associated with reduced apolipoprotein (AII), apolipoprotein (CIII), lipoprotein(a), and triglyceride levels | Q74034127 | ||
| A novel mutation, Ser159Pro in the NeuroD1/BETA2 gene contributes to the development of diabetes in a Chinese potential MODY family | Q80172922 | ||
| Mutant neurogenin-3 in congenital malabsorptive diarrhea | Q80219406 | ||
| Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5 | Q81402655 | ||
| Expression of HNF-4alpha (MODY1), HNF-1beta (MODY5), and HNF-1alpha (MODY3) proteins in the developing mouse pancreas | Q81585675 | ||
| Lack of pancreatic body and tail in HNF1B mutation carriers | Q81678416 | ||
| Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia | Q84819465 | ||
| Integrating insulin secretion and ER stress in pancreatic β-cells | Q87406106 | ||
| Pax6 directly down-regulates Pcsk1n expression thereby regulating PC1/3 dependent proinsulin processing | Q34442538 | ||
| Mutant neurogenin-3 in congenital malabsorptive diarrhea | Q34549325 | ||
| NEUROG3 variants and type 2 diabetes in Italians. | Q34587421 | ||
| Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3. | Q34718957 | ||
| Sirtuin-1 targeting promotes Foxp3+ T-regulatory cell function and prolongs allograft survival. | Q34742199 | ||
| Neonatal diabetes and congenital malabsorptive diarrhea attributable to a novel mutation in the human neurogenin-3 gene coding sequence | Q35101836 | ||
| Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus. | Q35150213 | ||
| Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease | Q35266682 | ||
| Repair of diverse diabetic defects of β-cells in man and mouse by pharmacological glucokinase activation | Q35611074 | ||
| Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations | Q35688342 | ||
| Insulin gene mutations as a cause of permanent neonatal diabetes | Q36002587 | ||
| GATA4 and GATA6 control mouse pancreas organogenesis. | Q36290293 | ||
| Pancreas-specific deletion of mouse Gata4 and Gata6 causes pancreatic agenesis | Q36290297 | ||
| Glis3 regulates neurogenin 3 expression in pancreatic β-cells and interacts with its activator, Hnf6. | Q36300219 | ||
| Exploring the therapeutic space around NAD+. | Q36317201 | ||
| A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2 | Q36430774 | ||
| Mitochondrial function and toxicity: role of the B vitamin family on mitochondrial energy metabolism | Q36502621 | ||
| Sustained expression of the transcription factor GLIS3 is required for normal beta cell function in adults | Q36602173 | ||
| GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency | Q36635415 | ||
| Identification of a SIRT1 mutation in a family with type 1 diabetes | Q37101840 | ||
| Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3. | Q37162467 | ||
| Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation | Q37251162 | ||
| Pdx1 (MODY4) regulates pancreatic beta cell susceptibility to ER stress | Q37419139 | ||
| MODY7 gene, KLF11, is a novel p300-dependent regulator of Pdx-1 (MODY4) transcription in pancreatic islet beta cells | Q37479390 | ||
| Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia | Q37605708 | ||
| Wolfram syndrome and WFS1 gene | Q37782389 | ||
| Monogenic autoimmunity | Q37973770 | ||
| Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia | Q37988542 | ||
| beta-cell-specific inactivation of the mouse Ipf1/Pdx1 gene results in loss of the beta-cell phenotype and maturity onset diabetes | Q40444628 | ||
| Transcription factor GATA-6 is expressed in the endocrine and GATA-4 in the exocrine pancreas | Q40503354 | ||
| The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter | Q40944535 | ||
| Liver-enriched transcription factors and hepatocyte differentiation. | Q40993765 | ||
| Identification of transacting factors responsible for the tissue-specific expression of human glucose transporter type 2 isoform gene. Cooperative role of hepatocyte nuclear factors 1alpha and 3beta | Q42803681 | ||
| Mutations in hepatocyte nuclear factor-1beta and their related phenotypes | Q43167987 | ||
| Localization of the pancreatic beta cell glucose transporter to specific plasma membrane domains | Q43512272 | ||
| Neonatal diabetes mellitus due to complete glucokinase deficiency | Q43616701 | ||
| Beta-cell-targeted expression of a dominant-negative hepatocyte nuclear factor-1 alpha induces a maturity-onset diabetes of the young (MODY)3-like phenotype in transgenic mice. | Q43802376 | ||
| Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia | Q43805190 | ||
| Transcription factor gene MNX1 is a novel cause of permanent neonatal diabetes in a consanguineous family | Q43984990 | ||
| P433 | issue | 2 | |
| P304 | page(s) | 121-133 | |
| P577 | publication date | 2014-02-24 | |
| P1433 | published in | Journal of Diabetes Investigation | Q28207066 |
| P1476 | title | Many faces of monogenic diabetes | |
| P478 | volume | 5 |
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