Published in J Clin Endocrinol Metab on September 01, 2004
ATP-sensitive potassium channelopathies: focus on insulin secretion. J Clin Invest (2005) 3.56
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. J Clin Invest (2008) 1.66
Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue. Diabetes (2007) 1.45
A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels. J Biol Chem (2005) 1.16
Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion. PLoS One (2008) 1.13
Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism. J Biol Chem (2008) 1.03
Leucine metabolism in regulation of insulin secretion from pancreatic beta cells. Nutr Rev (2010) 1.03
K(ATP) channel pharmacogenomics: from bench to bedside. Clin Pharmacol Ther (2007) 0.97
A novel atypical presentation of insulin autoimmune syndrome (Hirata's disease) in a child. J Pediatr Endocrinol Metab (2013) 0.93
Dominant versus recessive: molecular mechanisms in metabolic disease. J Inherit Metab Dis (2008) 0.92
Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations. Diabetologia (2011) 0.90
Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence. Diabetes (2008) 0.90
Dominant form of congenital hyperinsulinism maps to HK1 region on 10q. Horm Res Paediatr (2013) 0.87
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Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation. BMJ Case Rep (2013) 0.81
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism. Clin Genet (2014) 0.75
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. Nature (2007) 6.10
Regulation of NKT cell development by SAP, the protein defective in XLP. Nat Med (2005) 3.62
A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study. Diabetes (2008) 2.90
Role of cytogenetics in management of uveal melanoma. Arch Ophthalmol (2008) 2.73
Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med (2014) 2.62
Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates. Nat Clin Pract Endocrinol Metab (2007) 2.03
Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics (2008) 2.02
Diagnosis and localization of focal congenital hyperinsulinism by 18F-fluorodopa PET scan. J Pediatr (2007) 1.92
Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects. Hum Mol Genet (2010) 1.81
Chromosome 3 analysis of uveal melanoma using fine-needle aspiration biopsy at the time of plaque radiotherapy in 140 consecutive cases: the Deborah Iverson, MD, Lectureship. Arch Ophthalmol (2007) 1.68
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. J Biol Chem (2010) 1.68
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. J Clin Invest (2008) 1.66
Human embryonic and neuronal stem cell markers in retinoblastoma. Mol Vis (2007) 1.66
Green tea polyphenols modulate insulin secretion by inhibiting glutamate dehydrogenase. J Biol Chem (2006) 1.64
Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency. Mol Genet Metab (2002) 1.63
Protein-sensitive hypoglycemia without leucine sensitivity in hyperinsulinism caused by K(ATP) channel mutations. J Pediatr (2006) 1.57
Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes. Diabetes (2008) 1.56
Regulation of leucine-stimulated insulin secretion and glutamine metabolism in isolated rat islets. J Biol Chem (2002) 1.53
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. Am J Med Genet A (2010) 1.49
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. J Clin Invest (2008) 1.46
Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue. Diabetes (2007) 1.45
Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels. J Biol Chem (2002) 1.38
Hyperinsulinism in infancy and childhood: when an insulin level is not always enough. Clin Chem (2007) 1.37
A signaling role of glutamine in insulin secretion. J Biol Chem (2004) 1.33
Clinical features and insulin regulation in infants with a syndrome of prolonged neonatal hyperinsulinism. J Pediatr (2006) 1.29
The structure of apo human glutamate dehydrogenase details subunit communication and allostery. J Mol Biol (2002) 1.27
Stabilization of the activity of ATP-sensitive potassium channels by ion pairs formed between adjacent Kir6.2 subunits. J Gen Physiol (2003) 1.26
Accuracy of [18F]fluorodopa positron emission tomography for diagnosing and localizing focal congenital hyperinsulinism. J Clin Endocrinol Metab (2007) 1.25
Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations. Diabetes (2009) 1.23
TP53, BRCA1, and BRCA2 tumor suppressor genes are not commonly mutated in survivors of Hodgkin's disease with second primary neoplasms. J Clin Oncol (2003) 1.23
Necrotizing enterocolitis in neonates receiving octreotide for the management of congenital hyperinsulinism. Pediatr Diabetes (2009) 1.20
Sulfonylureas correct trafficking defects of ATP-sensitive potassium channels caused by mutations in the sulfonylurea receptor. J Biol Chem (2004) 1.18
A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels. J Biol Chem (2005) 1.16
Prognosis of uveal melanoma in 500 cases using genetic testing of fine-needle aspiration biopsy specimens. Ophthalmology (2011) 1.16
Effects of a GTP-insensitive mutation of glutamate dehydrogenase on insulin secretion in transgenic mice. J Biol Chem (2006) 1.15
Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene. Hum Mutat (2005) 1.13
Untangling the glutamate dehydrogenase allosteric nightmare. Trends Biochem Sci (2008) 1.13
Enhanced sensitivity for detection of low-level germline mosaic RB1 mutations in sporadic retinoblastoma cases using deep semiconductor sequencing. Hum Mutat (2013) 1.12
Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young. J Biol Chem (2005) 1.11
Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1. Diabetes (2011) 1.10
Elimination of KATP channels in mouse islets results in elevated [U-13C]glucose metabolism, glutaminolysis, and pyruvate cycling but a decreased gamma-aminobutyric acid shunt. J Biol Chem (2008) 1.10
Structural studies on ADP activation of mammalian glutamate dehydrogenase and the evolution of regulation. Biochemistry (2003) 1.10
Recent advances in retinoblastoma genetic research. Curr Opin Ophthalmol (2009) 1.10
Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation. J Clin Endocrinol Metab (2004) 1.09
Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor. Diabetes (2003) 1.09
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM). Diabetes (2007) 1.09
Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A. J Clin Endocrinol Metab (2012) 1.09
Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis. Pediatrics (2003) 1.09
Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations. Biochem J (2002) 1.08
Role of ubiquitin-proteasome degradation pathway in biogenesis efficiency of {beta}-cell ATP-sensitive potassium channels. Am J Physiol Cell Physiol (2005) 1.08
Sulfonylureas correct trafficking defects of disease-causing ATP-sensitive potassium channels by binding to the channel complex. J Biol Chem (2006) 1.06
The hyperinsulinism/hyperammonemia syndrome. Rev Endocr Metab Disord (2010) 1.06
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. J Clin Endocrinol Metab (2004) 1.05
Kir6.2 mutations associated with neonatal diabetes reduce expression of ATP-sensitive K+ channels: implications in disease mechanism and sulfonylurea therapy. Diabetes (2006) 1.04
Advances in diagnosis and treatment of hyperinsulinism in infants and children. J Clin Endocrinol Metab (2002) 1.04
Role of Hsp90 in biogenesis of the beta-cell ATP-sensitive potassium channel complex. Mol Biol Cell (2010) 1.03
Exendin-(9-39) corrects fasting hypoglycemia in SUR-1-/- mice by lowering cAMP in pancreatic beta-cells and inhibiting insulin secretion. J Biol Chem (2008) 1.03
Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. Hum Genet (2010) 1.03
Glucokinase activation repairs defective bioenergetics of islets of Langerhans isolated from type 2 diabetics. Am J Physiol Endocrinol Metab (2011) 1.03
The structure and allosteric regulation of mammalian glutamate dehydrogenase. Arch Biochem Biophys (2011) 1.03
Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism. J Biol Chem (2008) 1.03
Multiple primary melanoma revisited. Cancer (2002) 1.02
Sulfonylurea receptor 1 mutations that cause opposite insulin secretion defects with chemical chaperone exposure. J Biol Chem (2009) 1.01
Regulation of glucagon secretion in normal and diabetic human islets by γ-hydroxybutyrate and glycine. J Biol Chem (2012) 1.00
Down-regulation of ZnT8 expression in INS-1 rat pancreatic beta cells reduces insulin content and glucose-inducible insulin secretion. PLoS One (2009) 0.99
Evolution of glutamate dehydrogenase regulation of insulin homeostasis is an example of molecular exaptation. Biochemistry (2004) 0.99
Central nervous system hyperexcitability associated with glutamate dehydrogenase gain of function mutations. J Pediatr (2005) 0.99
Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism. Mod Pathol (2006) 0.98
Green tea polyphenols control dysregulated glutamate dehydrogenase in transgenic mice by hijacking the ADP activation site. J Biol Chem (2011) 0.98
Leptin regulates KATP channel trafficking in pancreatic β-cells by a signaling mechanism involving AMP-activated protein kinase (AMPK) and cAMP-dependent protein kinase (PKA). J Biol Chem (2013) 0.97
The diagnosis of ectopic focal hyperinsulinism of infancy with [18F]-dopa positron emission tomography. J Clin Endocrinol Metab (2006) 0.97