Condition: Hyperinsulinemic hypoglycemia, familial, 1


rs1008906426 in ABCC8 gene and Hyperinsulinemic hypoglycemia, familial, 1 PMID 24145932 2013 Characterization of the ABCC8 gene mutation and phenotype in patients with congenital hyperinsulinism in western Saudi Arabia.

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

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

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

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

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

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 26545876 2016 Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.

PMID 25720052 2015 Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture.

PMID 12941782 2003 Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor.

PMID 8650576 1996 Adenosine diphosphate as an intracellular regulator of insulin secretion.

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

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

PMID 8751851 1996 Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy.

PMID 9769320 1998 Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.

PMID 24814349 2015 Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.

PMID 8923011 1996 Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

PMID 9618169 1998 Genetic heterogeneity in familial hyperinsulinism.

PMID 11226335 2001 Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy.

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

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

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

PMID 10615958 2000 Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1.

PMID 11018078 2000 Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.

PMID 10202168 1999 Clinical features of 52 neonates with hyperinsulinism.

PMID 10334322 1999 A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.

PMID 23771172 2013 Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.

PMID 16969006 2006 Prenatal diagnosis and postnatal management of diffuse congenital hyperinsulinism: a case report.

PMID 26180531 2015 A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels.

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

PMID 25781672 2015 Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds.

PMID 10400694 1999 The C terminus of SUR1 is required for trafficking of KATP channels.

PMID 23798684 2013 Decomposition of slide helix contributions to ATP-dependent inhibition of Kir6.2 channels.

PMID 11272143 2001 Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations.

PMID 10447255 1999 Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism.

PMID 11999683 2002 Compound heterozygosity for the common sulfonylurea receptor mutations can cause mild diazoxide-sensitive hyperinsulinism.

PMID 21851374 2012 Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene.

PMID 21716120 2011 ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia.

PMID 7716548 1995 Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.

PMID 16860127 2006 Protein-sensitive hypoglycemia without leucine sensitivity in hyperinsulinism caused by K(ATP) channel mutations.

PMID 17378627 2007 Genotype-phenotype associations in patients with severe 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 25765446 2015 Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinism.

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 27889714 2017 Neonatal Diabetes: A Case Series.

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

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

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 27573238 2016 Pharmacological Correction of Trafficking Defects in ATP-sensitive Potassium Channels Caused by Sulfonylurea Receptor 1 Mutations.

PMID 25518065 2015 Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation.

PMID 26740944 2015 Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients.

PMID 19151370 2009 Sulfonylurea receptor 1 mutations that cause opposite insulin secretion defects with chemical chaperone exposure.

PMID 20432820 2010 Rapid genetic analysis, imaging with 18F-DOPA-PET/CT scan and laparoscopic surgery in congenital hyperinsulinism.

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

PMID 24645945 2014 Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia.

PMID 21321069 2011 N-terminal transmembrane domain of SUR1 controls gating of Kir6.2 by modulating channel sensitivity to PIP2.

PMID 23744072 2013 Carbamazepine as a novel small molecule corrector of trafficking-impaired ATP-sensitive potassium channels identified in congenital hyperinsulinism.

PMID 10993895 2000 Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy.

PMID 14593442 2003 Potassium channel regulation.

PMID 26246406 2015 ABCC8 R1420H Loss-of-Function Variant in a Southwest American Indian Community: Association With Increased Birth Weight and Doubled Risk of Type 2 Diabetes.

PMID 28442472 2017 Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets.

PMID 25639667 2016 Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.

PMID 24686051 2014 Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.

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

PMID 30352420 2018 Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia.

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

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

PMID 24616771 2013 Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism.

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

PMID 27810688 2016 Clinical whole exome sequencing in early onset diabetes patients.

PMID 21992908 2011 Congenital hyperinsulinism caused by mutations in ABCC8 (SUR1) gene.

PMID 12199344 2003 ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures.

PMID 21968111 2011 In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions.

PMID 25008049 2014 Mutational analysis of ABCC8, KCNJ11, GLUD1, HNF4A and GCK genes in 30 Chinese patients with congenital hyperinsulinism.

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 26268944 2015 Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.

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

PMID 25584046 2014 Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy.

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

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

PMID 27691052 2016 mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

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

PMID 17919176 2007 Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.

PMID 25931474 2015 Altered Phenotype of β-Cells and Other Pancreatic Cell Lineages in Patients With Diffuse Congenital Hyperinsulinism in Infancy Caused by Mutations in the ATP-Sensitive K-Channel.

PMID 16186397 2005 Serum glucagon counterregulatory hormonal response to hypoglycemia is blunted in congenital hyperinsulinism.

PMID 17384337 2007 Coexistence in the same family of both focal and diffuse forms of hyperinsulinism.

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.