Many faces of monogenic diabetes

Identification of a SIRT1 Mutation in a Family with Type 1 Diabetes

(2013) Anna Biason-Lauber et al.   Cell Metabolism

Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation

(2013) L. L. Bonnycastle et al.   DIABETES

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

(2013) Kevin Colclough et al.   HUMAN MUTATION

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

(2013) Michael N Weedon et al.   NATURE GENETICS

A homozygousIER3IP1mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)

(2012) Ghada M.H. Abdel-Salam et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Monogenic Autoimmunity

(2012) Mickie H. Cheng et al.   Annual Review of Immunology

Lipoprotein composition in HNF1A-MODY: Differentiating between HNF1A-MODY and Type 2 diabetes

(2012) Tim J. McDonald et al.   CLINICA CHIMICA ACTA

GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency

(2012) E. De Franco et al.   DIABETES

Repair of diverse diabetic defects of β-cells in man and mouse by pharmacological glucokinase activation

(2012) Nicolai M. Doliba et al.   DIABETES OBESITY & METABOLISM

Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes

(2012) A. Bonnefond et al.   DIABETOLOGIA

GATA6 inactivating mutations are associated with heart defects and, inconsistently, with pancreatic agenesis and diabetes

(2012) A. Bonnefond et al.   DIABETOLOGIA

Sustained expression of the transcription factor GLIS3 is required for normal beta cell function in adults

(2012) Yisheng Yang et al.   EMBO Molecular Medicine

Exploring the therapeutic space around NAD+

(2012) Riekelt H. Houtkooper et al.   JOURNAL OF CELL BIOLOGY

Pancreas-specific deletion of mouse Gata4 and Gata6 causes pancreatic agenesis

(2012) Shouhong Xuan et al.   JOURNAL OF CLINICAL INVESTIGATION

GATA4 and GATA6 control mouse pancreas organogenesis

(2012) Manuel Carrasco et al.   JOURNAL OF CLINICAL INVESTIGATION

Glis3 regulates neurogenin 3 expression in pancreatic β-cells and interacts with its activator, Hnf6

(2012) Yong-Sik Kim et al.   MOLECULES AND CELLS

Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion

(2012) Sonya G. Fonseca et al.   NATURE CELL BIOLOGY

Integrating insulin secretion and ER stress in pancreatic β-cells

(2012) Katleen Lemaire et al.   NATURE CELL BIOLOGY

Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia

(2012) Charles Shaw-Smith et al.   PEDIATRIC DIABETES

Pax6 Directly Down-Regulates Pcsk1n Expression Thereby Regulating PC1/3 Dependent Proinsulin Processing

(2012) Ting Liu et al.   PLoS One

Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations

(2011) Ronen Spiegel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement

(2011) M Al-Shammari et al.   CLINICAL GENETICS

Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3

(2011) O. Rubio-Cabezas et al.   DIABETES

Clinical and Metabolic Features of Adult-Onset Diabetes Caused by ABCC8 Mutations

(2011) J.-P. Riveline et al.   DIABETES CARE

Effects of MK-0941, a Novel Glucokinase Activator, on Glycemic Control in Insulin-Treated Patients With Type 2 Diabetes

(2011) G. E. Meininger et al.   DIABETES CARE

Diabetes and Pancreatic Exocrine Dysfunction Due to Mutations in the Carboxyl Ester Lipase Gene-Maturity Onset Diabetes of the Young (CEL-MODY)

(2011) Bente B. Johansson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Disruption of a Novel Krüppel-like Transcription Factor p300-regulated Pathway for Insulin Biosynthesis Revealed by Studies of the c.-331INSMutation Found in Neonatal Diabetes Mellitus

(2011) Amélie Bonnefond et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neonatal Diabetes and Congenital Malabsorptive Diarrhea Attributable to a Novel Mutation in the Human Neurogenin-3 Gene Coding Sequence

(2011) Sara E. Pinney et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Sirtuin-1 Targeting Promotes Foxp3+ T-Regulatory Cell Function and Prolongs Allograft Survival

(2011) U. H. Beier et al.   MOLECULAR AND CELLULAR BIOLOGY

GATA6 haploinsufficiency causes pancreatic agenesis in humans

(2011) Hana Lango Allen et al.   NATURE GENETICS

Wolfram syndrome and WFS1 gene

(2010) L Rigoli et al.   CLINICAL GENETICS

PERK (EIF2AK3) Regulates Proinsulin Trafficking and Quality Control in the Secretory Pathway

(2010) Sounak Gupta et al.   DIABETES

Homozygous Mutations in NEUROD1 Are Responsible for a Novel Syndrome of Permanent Neonatal Diabetes and Neurological Abnormalities

(2010) O. Rubio-Cabezas et al.   DIABETES

Assessment of High-Sensitivity C-Reactive Protein Levels as Diagnostic Discriminator of Maturity-Onset Diabetes of the Young Due to HNF1A Mutations

(2010) K. R. Owen et al.   DIABETES CARE

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

(2010) E. D’Amato et al.   DIABETIC MEDICINE

Novel GLIS3 mutations demonstrate an extended multisystem phenotype

(2010) P Dimitri et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Rfx6 directs islet formation and insulin production in mice and humans

(2010) Stuart B. Smith et al.   NATURE

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

(2010) Josée Dupuis et al.   NATURE GENETICS

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

(2010) I. Garin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Compound heterozygosity for mutations inPAX6in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia

(2009) Benjamin D. Solomon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3

(2009) Rajgopal Govindarajan et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Rfx6 is an Ngn3-dependent winged helix transcription factor required for pancreatic islet cell development

(2009) Josselin Soyer et al.   DEVELOPMENT

Clinical Heterogeneity in Monogenic Diabetes Caused by Mutations in the Glucokinase Gene (GCK-MODY)

(2009) A. L. Cuesta-Munoz et al.   DIABETES CARE

Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene

(2009) A. M. Steele et al.   DIABETIC MEDICINE

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway

(2009) Simon T. Cliffe et al.   HUMAN MOLECULAR GENETICS

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia

(2009) Kara K. Osbak et al.   HUMAN MUTATION

MODY7Gene,KLF11, Is a Novel p300-dependent Regulator ofPdx-1(MODY4) Transcription in Pancreatic Islet β Cells

(2009) Martin E. Fernandez-Zapico et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Expanded Clinical Spectrum in Hepatocyte Nuclear Factor 1B-Maturity-Onset Diabetes of the Young

(2009) Klemens Raile et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

(2009) Jeffrey C Barrett et al.   NATURE GENETICS

Pdx1 (MODY4) regulates pancreatic beta cell susceptibility to ER stress

(2009) Mira M. Sachdeva et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations at the BLK locus linked to maturity onset diabetes of the young and  -cell dysfunction

(2009) M. Borowiec et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lack of pancreatic body and tail inHNF1Bmutation carriers

(2008) I. S. Haldorsen et al.   DIABETIC MEDICINE

Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation inNEUROD1

(2008) Lucie Gonsorčíková et al.   PEDIATRIC DIABETES

Expression of HNF-4α (MODY1), HNF-1β (MODY5), and HNF-1α (MODY3) proteins in the developing mouse pancreas

(2007) Takao Nammo et al.   GENE EXPRESSION PATTERNS