Condition: Hyperinsulinemic hypoglycemia, familial, 2


rs1057516281 in ABCC8 gene and Hyperinsulinemic hypoglycemia, familial, 2 PMID 18339976 2008 Glucose intolerance and diabetes are observed in the long-term follow-up of nonpancreatectomized patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene.

PMID 23275527 2013 Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

PMID 16429405 2006 Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).

PMID 20943781 2011 Molecular and clinical analysis of Japanese patients with persistent congenital hyperinsulinism: predominance of paternally inherited monoallelic mutations in the KATP channel genes.

PMID 23345197 2013 Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

PMID 16357843 2006 Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.

PMID 22802590 2012 A universally conserved residue in the SUR1 subunit of the KATP channel is essential for translating nucleotide binding at SUR1 into channel opening.

PMID 14715863 2004 Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation.

PMID 19475716 2009 The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.

PMID 17378627 2007 Genotype-phenotype associations in patients with severe hyperinsulinism of infancy.

PMID 25117148 2014 Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia.

PMID 27682711 2016 Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center.

PMID 25323548 2014 Congenital hyperinsulinism.

PMID 18073294 2008 Evaluation of [18F]fluoro-L-DOPA positron emission tomography-computed tomography for surgery in focal congenital hyperinsulinism.

PMID 21411514 2011 In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy.

PMID 18767144 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.

PMID 20943779 2011 Familial focal congenital hyperinsulinism.

PMID 15579781 2004 Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

PMID 10202168 1999 Clinical features of 52 neonates with hyperinsulinism.

PMID 1021286 1976 Spectrophotometric determination of quinine, emethine and ephedrine in pharmaceutical preparations with tetrabromophenolphthalein ethyl ester by solvent extraction.

PMID 9618169 1998 Genetic heterogeneity in familial hyperinsulinism.

PMID 17575084 2007 Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue.

PMID 16416420 2006 Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.

PMID 10685980 2000 Hyperinsulinism of infancy: towards an understanding of unregulated insulin release. European Network for Research into Hyperinsulinism in Infancy.

PMID 9648840 1998 Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.

PMID 20685672 2010 ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.

PMID 14692646 2004 Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations.

PMID 21378087 2011 The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism.

PMID 22855730 2012 GLP-1 receptor antagonist exendin-(9-39) elevates fasting blood glucose levels in congenital hyperinsulinism owing to inactivating mutations in the ATP-sensitive K+ channel.

PMID 25201519 2014 Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.

PMID 23652837 2013 Genetic analysis of Italian patients with congenital hyperinsulinism of infancy.

PMID 10338089 1999 Congenital hyperinsulinism: molecular basis of a heterogeneous disease.

PMID 17236890 2007 Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan.

PMID 24750227 2014 Occurrence of giant focal forms of congenital hyperinsulinism with incorrect visualization by (18) F DOPA-PET/CT scanning.

PMID 10204114 1999 Molecular biology of adenosine triphosphate-sensitive potassium channels.

PMID 15562009 2005 Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.

PMID 20799350 2010 Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.

PMID 11867634 2002 Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels.

PMID 10720932 2000 Familial hyperinsulinism and pancreatic beta-cell ATP-sensitive potassium channels.

PMID 14764815 2004 Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism.

PMID 17466004 2007 Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies.

PMID 18988933 2008 Case report: pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations.

PMID 21422196 2011 Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.

PMID 23067144 2013 Efficacy and safety of long-term, continuous subcutaneous octreotide infusion for patients with different subtypes of KATP-channel hyperinsulinism.

PMID 24401662 2014 Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism.

PMID 17668386 2007 Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.

rs104894237 in KCNJ11 gene and Hyperinsulinemic hypoglycemia, familial, 2 PMID 16357843 2006 Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.

PMID 16332676 2006 A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels.

PMID 7847376 1995 Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy.

PMID 10204114 1999 Molecular biology of adenosine triphosphate-sensitive potassium channels.

PMID 15807877 2005 Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy.

PMID 19357197 2009 Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism.

PMID 15562009 2005 Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.

PMID 8923010 1996 Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy.

PMID 15998776 2005 Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function.

PMID 18596924 2008 Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

PMID 15579781 2004 Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

PMID 12364426 2002 Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism.

PMID 21422196 2011 Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.

PMID 21812132 2011 Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Geneva, Switzerland. August 30-September 2, 2011.

PMID 11395395 2001 Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11.

PMID 22311976 2012 Role of Derlin-1 protein in proteostasis regulation of ATP-sensitive potassium channels.

PMID 18250167 2008 Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism.

PMID 20685672 2010 ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.

PMID 23345197 2013 Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

PMID 23275527 2013 Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

PMID 12524280 2003 Molecular basis for Kir6.2 channel inhibition by adenine nucleotides.

PMID 17446535 2007 Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.

PMID 27908292 2016 Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.