Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA

Validation of a rapid type 1 diabetes autoantibody screening assay for community-based screening of organ donors to identify subjects at increased risk for the disease

(2016) C. Wasserfall et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

2. Classification and Diagnosis of Diabetes

(2016)   DIABETES CARE

Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes

(2016) Maggie Shepherd et al.   DIABETES CARE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Insulitis and β-Cell Mass in the Natural History of Type 1 Diabetes

(2015) Martha Campbell-Thompson et al.   DIABETES

The influence of type 1 diabetes on pancreatic weight

(2015) Martha L. Campbell-Thompson et al.   DIABETOLOGIA

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

(2015) Elisa De Franco et al.   LANCET

Update on Diabetes Classification

(2015) Celeste C. Thomas et al.   MEDICAL CLINICS OF NORTH AMERICA

Novel GATA6 Mutations in Patients with Pancreatic Agenesis and Congenital Heart Malformations

(2015) Christina S. Chao et al.   PLoS One

Nuclear lamina remodelling and its implications for human disease

(2014) Alexandre Chojnowski et al.   CELL AND TISSUE RESEARCH

Human Pancreas Endocrine Cell Populations and Activating ABCC8 Mutations

(2014) Kanetee Busiah et al.   Hormone Research in Paediatrics

Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach

(2014) G. Alkorta-Aranburu et al.   MOLECULAR GENETICS AND METABOLISM

The diagnosis of insulitis in human type 1 diabetes

(2013) M. L. Campbell-Thompson et al.   DIABETOLOGIA

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

Prevalence, Characteristics and Clinical Diagnosis of Maturity Onset Diabetes of the Young Due to Mutations in HNF1A, HNF4A, and Glucokinase: Results From the SEARCH for Diabetes in Youth

(2013) Catherine Pihoker et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Regional Differences in Islet Distribution in the Human Pancreas - Preferential Beta-Cell Loss in the Head Region in Patients with Type 2 Diabetes

(2013) Xiaojun Wang et al.   PLoS One

GLIS3, a Susceptibility Gene for Type 1 and Type 2 Diabetes, Modulates Pancreatic Beta Cell Apoptosis via Regulation of a Splice Variant of the BH3-Only Protein Bim

(2013) Tatiane C. Nogueira et al.   PLoS Genetics

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

Systematic Assessment of Etiology in Adults With a Clinical Diagnosis of Young-Onset Type 2 Diabetes Is a Successful Strategy for Identifying Maturity-Onset Diabetes of the Young

(2012) G. Thanabalasingham et al.   DIABETES CARE

Network for Pancreatic Organ Donors with Diabetes (nPOD): developing a tissue biobank for type 1 diabetes

(2012) Martha Campbell-Thompson et al.   DIABETES-METABOLISM RESEARCH AND REVIEWS

Gata6is required for complete acinar differentiation and maintenance of the exocrine pancreas in adult mice

(2012) Paola Martinelli et al.   GUT

Who should have genetic testing for maturity-onset diabetes of the young?

(2011) Rochelle Naylor et al.   CLINICAL ENDOCRINOLOGY

LMNA cardiomyopathy: cell biology and genetics meet clinical medicine

(2011) J. T. Lu et al.   Disease Models & Mechanisms

Congenital Hyperinsulinism and Glucose Hypersensitivity in Homozygous and Heterozygous Carriers of Kir6.2 (KCNJ11) Mutation V290M Mutation: KATP Channel Inactivation Mechanism and Clinical Management

(2010) K. J. Loechner et al.   DIABETES

Maturity-onset diabetes of the young (MODY): how many cases are we missing?

(2010) B. M. Shields et al.   DIABETOLOGIA

Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene

(2010) Julie Støy et al.   REVIEWS IN ENDOCRINE & METABOLIC DISORDERS

The Krüppel-like zinc finger protein Glis3 directly and indirectly activates insulin gene transcription

(2009) Yisheng Yang et al.   NUCLEIC ACIDS RESEARCH

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations

(2008) Sara E. Pinney et al.   JOURNAL OF CLINICAL INVESTIGATION

Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease

(2008) Dimitri Renard et al.   STROKE