Associated Papers
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
The Elusive Nature of ABCC8-related Maturity-Onset Diabetes of the Young (ABCC8-MODY). A Review of the Literature and Case Discussion.
Marassi M et al.
Current Diabetes Reports, 2024
Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic.
Hopkins JJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.
Wyatt RC et al.
Diabetologia, 2022
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.
Bansal V et al.
Bmc Medicine, 2017
Diagnosis of ABCC8 Congenital Hyperinsulinism of Infancy in a 20-Year-Old Man Evaluated for Factitious Hypoglycemia.
Gutgold A et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
Kapoor RR et al.
European Journal of Endocrinology, 2013
K(ATP) channelopathies in the pancreas.
Remedi MS et al.
Pflugers Archiv : European Journal of Physiology, 2010
The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetes.
Lang V et al.
Pharmacogenomics and Personalized Medicine, 2010
Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Gloyn AL et al.
Human Mutation, 2006
Insight in eukaryotic ABC transporter function by mutation analysis.
Frelet A et al.
Febs Letters, 2006
K(ATP) channels and insulin secretion disorders.
Huopio H et al.
American Journal of Physiology. Endocrinology and Metabolism, 2002
Persistent hyperinsulinaemic hyperglycaemia of infancy-derived cells; implications for beta-cells that replicate in vitro.
Dunne MJ et al.
Journal of Molecular Endocrinology, 2000
Molecular biology of adenosine triphosphate-sensitive potassium channels.
Aguilar-Bryan L et al.
Endocrine Reviews, 1999
Congenital hyperinsulinism: molecular basis of a heterogeneous disease.
Meissner T et al.
Human Mutation, 1999
Genetic heterogeneity in familial hyperinsulinism.
Nestorowicz A et al.
Human Molecular Genetics, 1998
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.
Shyng SL et al.
Diabetes, 1998