Associated Papers
ABCC8 Missense Variants and Disease: Loss or Gain? This Is the Question.
Barbetti F et al.
Diabetes, 2026
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.
Minniakhmetov IR et al.
International Journal of Molecular Sciences, 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
A loss-of-function mutation in KCNJ11 causing sulfonylurea-sensitive diabetes in early adult life.
Vedovato N et al.
Diabetologia, 2024
Generation of Human Isogenic Induced Pluripotent Stem Cell Lines with CRISPR Prime Editing.
Bonnycastle LL et al.
The Crispr Journal, 2024
Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.
Clemente M et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Personalized Therapeutics for KATP-Dependent Pathologies.
Nichols CG
Annual Review of Pharmacology and Toxicology, 2023
Genetics of osteopontin in patients with chronic kidney disease: The German Chronic Kidney Disease study.
Cheng Y et al.
Plos Genetics, 2022
ATP-Sensitive Potassium Channels in Hyperinsulinism and Type 2 Diabetes: Inconvenient Paradox or New Paradigm?
Nichols CG et al.
Diabetes, 2022
The short form of the SUR1 and its functional implications in the damaged brain.
Alquisiras-Burgos I et al.
Neural Regeneration Research, 2022
Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?
Ali Khan I
Heliyon, 2021
Genetic variants of ABCC8 and phenotypic features in Chinese early onset diabetes.
Li M et al.
Journal of Diabetes, 2021
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
A Transparent Approach to Calculate Detection Rate and Residual Risk for Carrier Screening.
Leung ML et al.
The Journal of Molecular Diagnostics : Jmd, 2021
Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review.
Li M et al.
Journal of Diabetes Research, 2021
SUR1-E1506K mutation impairs glucose tolerance and promotes vulnerable atherosclerotic plaque phenotype in hypercholesterolemic mice.
Gurzeler E et al.
Plos One, 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
Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
De Franco E et al.
Human Mutation, 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
Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism.
Houghton JA et al.
The Journal of Pathology. Clinical Research, 2020
ATP binding without hydrolysis switches sulfonylurea receptor 1 (SUR1) to outward-facing conformations that activate KATP channels.
Sikimic J et al.
The Journal of Biological Chemistry, 2019
Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia.
Xu ZD et al.
Endocrine Connections, 2018
ATP-Sensitive Potassium Channels and Their Physiological and Pathophysiological Roles.
Tinker A et al.
Comprehensive Physiology, 2018
SLC35B4, an Inhibitor of Gluconeogenesis, Responds to Glucose Stimulation and Downregulates Hsp60 among Other Proteins in HepG2 Liver Cell Lines.
Wex B et al.
Molecules (basel, Switzerland), 2018
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.
Bansal V et al.
Bmc Medicine, 2017
Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan.
Hashimoto Y et al.
Pediatric Diabetes, 2017
Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India.
Doddabelavangala Mruthyunjaya M et al.
Plos One, 2017
Current Status of Childhood Hyperinsulinemic Hypoglycemia in Turkey.
Şıklar Z et al.
Journal of Clinical Research in Pediatric Endocrinology, 2016
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.
Yang Y et al.
Endocrine Reviews, 2016
Clinical and genetic characterization of congenital hyperinsulinism in Spain.
Martínez R et al.
European Journal of Endocrinology, 2016
Hyperinsulinemic Hypoglycemia - The Molecular Mechanisms.
Nessa A et al.
Frontiers in Endocrinology, 2016
ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes.
Baier LJ et al.
Diabetes, 2015
Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients.
Fan ZC et al.
Molecular Genetics & Genomic Medicine, 2015
Neonatal Diabetes and Congenital Hyperinsulinism Caused by Mutations in ABCC8/SUR1 are Associated with Altered and Opposite Affinities for ATP and ADP.
Ortiz D et al.
Frontiers in Endocrinology, 2015
Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism.
Mohnike K et al.
Hormone Research in Paediatrics, 2014
A mouse model of human hyperinsulinism produced by the E1506K mutation in the sulphonylurea receptor SUR1.
Shimomura K et al.
Diabetes, 2013
Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort.
Faletra F et al.
Gene, 2013
Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation.
Khoriati D et al.
Bmj Case Reports, 2013
Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations.
Faletra F et al.
Gene, 2013
Nateglinide is Effective for Diabetes Mellitus with Reactive Hypoglycemia in a Child with a Compound Heterozygous ABCC8 Mutation.
Saito-Hakoda A et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2012
Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations.
Kapoor RR et al.
Diabetologia, 2011
Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.
Flanagan SE et al.
Clinical Genetics, 2011
Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes.
Männikkö R et al.
Diabetes, 2011
Association of indices of liver and adipocyte insulin resistance with 19 confirmed susceptibility loci for type 2 diabetes in 6,733 non-diabetic Finnish men.
Vangipurapu J et al.
Diabetologia, 2011
Glucose metabolism and neurological outcome in congenital hyperinsulinism.
Ludwig A et al.
Seminars in Pediatric Surgery, 2011
Molecular and clinical analysis of Japanese patients with persistent congenital hyperinsulinism: predominance of paternally inherited monoallelic mutations in the KATP channel genes.
Yorifuji T et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell.
Oçal G et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation.
Vieira TC et al.
Pediatric Diabetes, 2010