Associated Papers
Modelling the effects of human SUR1 R1420H variation on insulin secretory function using isogenic iPSC-derived pancreatic islets.
Nair AK et al.
Diabetologia, 2026
AI-based discovery and cryoEM structural elucidation of a KATP channel pharmacochaperone.
Elsheikh A et al.
Elife, 2025
Molecular Genetic Architecture of Morbid Obesity in Russian Children.
Minniakhmetov IR et al.
Biomedicines, 2025
AI-Based Discovery and CryoEM Structural Elucidation of a KATP Channel Pharmacochaperone.
ElSheikh A et al.
Biorxiv : the Preprint Server for Biology, 2025
Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study.
Velde CD et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.
Llorin H et al.
Genetics in Medicine Open, 2024
KATP channel mutations in congenital hyperinsulinism: Progress and challenges towards mechanism-based therapies.
ElSheikh A et al.
Frontiers in Endocrinology, 2023
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
Stem Cell-Derived β Cells: A Versatile Research Platform to Interrogate the Genetic Basis of β Cell Dysfunction.
Bartolomé A
International Journal of Molecular Sciences, 2022
Stem Cell Based Models in Congenital Hyperinsulinism - Perspective on Practicalities and Possibilities.
Lithovius V et al.
Frontiers in Endocrinology, 2022
Functional Regulation of KATP Channels and Mutant Insight Into Clinical Therapeutic Strategies in Cardiovascular Diseases.
Wang Z et al.
Frontiers in Pharmacology, 2022
Long-Term Outcome and Treatment in Persistent and Transient Congenital Hyperinsulinism: A Finnish Population-Based Study.
Männistö JME et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
SUR1-mutant iPS cell-derived islets recapitulate the pathophysiology of congenital hyperinsulinism.
Lithovius V et al.
Diabetologia, 2021
A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening.
Leung ML et al.
The Journal of Molecular Diagnostics : Jmd, 2021
The difficult management of persistent, non-focal congenital hyperinsulinism: A retrospective review from a single, tertiary center.
Rasmussen AG et al.
Pediatric Diabetes, 2020
Clinical and Genetic Characterization of 153 Patients with Persistent or Transient Congenital Hyperinsulinism.
Männistö JME et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Pharmacological chaperones of ATP-sensitive potassium channels: Mechanistic insight from cryoEM structures.
Martin GM et al.
Molecular and Cellular Endocrinology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
KCNJ11, ABCC8 and TCF7L2 polymorphisms and the response to sulfonylurea treatment in patients with type 2 diabetes: a bioinformatics assessment.
Song J et al.
Bmc Medical Genetics, 2017
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms.
Nessa A et al.
Frontiers in Endocrinology, 2016
5'-adenosine monophosphate mediated cooling treatment enhances ΔF508-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) stability in vivo.
Zhang Y et al.
Journal of Biomedical Science, 2015
Structurally distinct ligands rescue biogenesis defects of the KATP channel complex via a converging mechanism.
Devaraneni PK et al.
The Journal of Biological Chemistry, 2015
Pharmacological rescue of trafficking-impaired ATP-sensitive potassium channels.
Martin GM et al.
Frontiers in Physiology, 2013
Detection of carriers in the Ashkenazi Jewish population: an objective comparison of high-throughput genotyping versus gene-by-gene testing.
Klugman S et al.
Genetic Testing and Molecular Biomarkers, 2013
Carbamazepine as a novel small molecule corrector of trafficking-impaired ATP-sensitive potassium channels identified in congenital hyperinsulinism.
Chen PC et al.
The Journal of Biological Chemistry, 2013
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
Kapoor RR et al.
European Journal of Endocrinology, 2013
Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell lines.
Sampson HM et al.
Orphanet Journal of Rare Diseases, 2013
In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions.
Henquin JC et al.
The Journal of Clinical Investigation, 2011
Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.
Park SE et al.
European Journal of Endocrinology, 2011
Current understanding of K ATP channels in neonatal diseases: focus on insulin secretion disorders.
Quan Y et al.
Acta Pharmacologica Sinica, 2011
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
KATP channel mutations in congenital hyperinsulinism.
Saint-Martin C et al.
Seminars in Pediatric Surgery, 2011
Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management.
Loechner KJ et al.
Diabetes, 2011
K(ATP) channelopathies in the pancreas.
Remedi MS et al.
Pflugers Archiv : European Journal of Physiology, 2010
ATP-sensitive potassium channels in health and disease.
Clark R et al.
Advances in Experimental Medicine and Biology, 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
The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.
Sandal T et al.
Clinical Genetics, 2009
Sulfonylurea receptor 1 mutations that cause opposite insulin secretion defects with chemical chaperone exposure.
Pratt EB et al.
The Journal of Biological Chemistry, 2009
Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Flanagan SE et al.
Human Mutation, 2009
An overview of trafficking and assembly of neurotransmitter receptors and ion channels (Review).
Schwappach B
Molecular Membrane Biology, 2008
Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue.
Yan FF et al.
Diabetes, 2007
Sulfonylureas correct trafficking defects of disease-causing ATP-sensitive potassium channels by binding to the channel complex.
Yan FF et al.
The Journal of Biological Chemistry, 2006
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
Proks P et al.
Human Molecular Genetics, 2006