The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism

The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism is …
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scholarly articleQ13442814

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P356DOI10.3389/FENDO.2019.00111
P932PMC publication ID6401612
P698PubMed publication ID30873120

P2093author name stringKhalid Hussain
Hüseyin Demirbilek
Sara Al-Khawaga
Sonya Galcheva
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Compound heterozygosity for the common sulfonylurea receptor mutations can cause mild diazoxide-sensitive hyperinsulinismQ43985793
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The MODY1 gene HNF-4alpha regulates selected genes involved in insulin secretionQ28513687
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Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenaseQ34181596
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Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activationQ34319932
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronismQ34361657
Glucose modulation of glucokinase activation by small moleculesQ46089715
Neurological aspects of hyperinsulinism-hyperammonaemia syndromeQ46221266
Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinismQ46363716
Hyperinsulinism in tyrosinaemia type I.Q46475210
Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutationQ46616481
ATP enhances exocytosis of insulin secretory granules in pancreatic islets under Ca2+-depleted conditionQ46649104
Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutationsQ46759019
Hepatocyte nuclear factor-4alpha is essential for glucose-stimulated insulin secretion by pancreatic beta-cellsQ46868194
An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinismQ46945297
Congenital Hyperinsulinism: Diagnosis and Treatment UpdateQ47894084
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancyQ47903960
Molecular basis of the long-QT syndrome associated with deafnessQ48049583
Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)Q48056898
Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor geneQ48150412
Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia.Q48169448
Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.Q48181466
Expression of Calcium Channel mRNAs in Rat Pancreatic Islets and Downregulation After Glucose InfusionQ48264512
Congenital central hypoventilation syndrome and hypoglycaemiaQ48273121
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Mosaic Turner syndrome and hyperinsulinaemic hypoglycaemiaQ48298110
Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalitiesQ49653037
A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancyQ49884842
Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?Q50060793
Congenital Hyperinsulinism and Hypopituitarism Attributable to a Novel Mutation in FOXA2.Q50062725
Nutrient sensing in pancreatic islets: lessons from congenital hyperinsulinism and monogenic diabetesQ50088043
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.Q50211745
Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomyQ37370991
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Hyperinsulinism in developmental syndromesQ37417001
Dominant form of congenital hyperinsulinism maps to HK1 region on 10q.Q37422505
Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over timeQ37465263
Asymptomatic Congenital Hyperinsulinism due to a Glucokinase-Activating Mutation, Treated as Adrenal Insufficiency for Twelve YearsQ37598114
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemiaQ37605708
The structure and allosteric regulation of glutamate dehydrogenaseQ37808783
Genetics of congenital hyperinsulinemic hypoglycemiaQ37824089
KATP channel mutations in congenital hyperinsulinismQ37824090
Morphological mosaicism of the pancreatic islets: a novel anatomopathological form of persistent hyperinsulinemic hypoglycemia of infancyQ37940268
Novel insights into fatty acid oxidation, amino acid metabolism, and insulin secretion from studying patients with loss of function mutations in 3-hydroxyacyl-CoA dehydrogenase.Q38068635
Integrating genetic and imaging investigations into the clinical management of congenital hyperinsulinism.Q38076506
Metabolic signaling in fuel-induced insulin secretionQ38116234
Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literatureQ38129372
Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutationsQ38247221
Molecular mechanisms of congenital hyperinsulinismQ38367078
Hyperinsulinemic Hypoglycemia.Q38554245
Biomarkers of Insulin for the Diagnosis of Hyperinsulinemic Hypoglycemia in Infants and Children.Q38613445
Molecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations in ABCC8.Q38861985
The Pancreatic β-Cell: A Bioenergetic PerspectiveQ38943061
Hyperinsulinaemic hypoglycaemia in children and adults.Q39028483
Novel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2.Q39102009
Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinismQ39862542
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.Q50503545
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Costello syndrome and hyperinsulinemic hypoglycemia.Q51924302
Conditional Tissue-Specific Foxa2 Ablation in Mouse Pancreas Causes Hyperinsulinemic Hypoglycemia.Q53175598
Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies.Q53618272
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Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.Q54382062
Hypoglycemia in Kabuki syndrome.Q54482735
Large Islets, Beta-Cell Proliferation, and a Glucokinase MutationQ55071701
Muscle glycogenosis due to phosphoglucomutase 1 deficiencyQ55670370
Hyperinsulinemic Hypoglycemia in Beckwith-Wiedemann Syndrome due to Defects in the Function of Pancreatic β-Cell Adenosine Triphosphate-Sensitive Potassium ChannelsQ56111008
Three Human Glutamate Dehydrogenase Genes (GLUD1, GLUDP2, and GLUDP3) Are Located on Chromosome 10q, but Are Not Closely Physically LinkedQ57239996
Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing InvestigatorsQ57499728
Functional Analysis of a Mutant Sulfonylurea Receptor, SUR1-R1420C, That Is Responsible for Persistent Hyperinsulinemic Hypoglycemia of InfancyQ58449724
Intracellular ATP directly blocks K+ channels in pancreatic B-cellsQ59072807
Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F MutationQ64235767
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Banting Lecture 1995. A lesson in metabolic regulation inspired by the glucokinase glucose sensor paradigmQ34370210
KCNQ1 long QT syndrome patients have hyperinsulinemia and symptomatic hypoglycemiaQ34393350
Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasiaQ34412550
Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancyQ34502736
Mitochondrial GTP insensitivity contributes to hypoglycemia in hyperinsulinemia hyperammonemia by inhibiting glucagon releaseQ34545472
Dynamic regulation of Pdx1 enhancers by Foxa1 and Foxa2 is essential for pancreas development.Q34657904
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigreesQ35001535
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Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1Q35043418
Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutationsQ35201578
Multiple phenotypes in phosphoglucomutase 1 deficiencyQ35216844
Tissue-specific expression of glucokinase: identification of the gene product in liver and pancreatic isletsQ35596671
Hyperinsulinemic Hypoglycaemia in a Turner Syndrome with Ring (X).Q35598895
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DNA methylation directs functional maturation of pancreatic β cellsQ36040239
Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutationQ36292438
Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescueQ36428374
Regulation of KATP channel activity by diazoxide and MgADP. Distinct functions of the two nucleotide binding folds of the sulfonylurea receptorQ36436008
Open state destabilization by ATP occupancy is mechanism speeding burst exit underlying KATP channel inhibition by ATP.Q36445257
Genotype and phenotype correlations in 417 children with congenital hyperinsulinismQ36589427
Heterogeneity in phenotype of usher-congenital hyperinsulinism syndrome: hearing loss, retinitis pigmentosa, and hyperinsulinemic hypoglycemia ranging from severe to mild with conversion to diabetesQ36629599
The inward rectifier potassium channel family.Q36684014
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinismQ36688839
Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism DisordersQ36716020
L-glutamate dehydrogenases: distribution, properties and mechanism.Q36761805
The molecular mechanisms, diagnosis and management of congenital hyperinsulinismQ36862232
Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.Q36906935
Uncoupling proteins: role in insulin resistance and insulin insufficiencyQ37065665
Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutationsQ37193748
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 hyperinsulinismQ37259401
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.Q37270892
Foxa2 regulates multiple pathways of insulin secretion.Q37286330
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P407language of work or nameEnglishQ1860
P921main subjecthyperinsulinismQ477390
HypoglycaemiaQ42004365
P304page(s)111
P577publication date2019-01-01
P1433published inFrontiers in EndocrinologyQ27723680
P1476titleThe Genetic and Molecular Mechanisms of Congenital Hyperinsulinism
P478volume10

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Q90115285Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenasecites workP2860

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