Published in Hum Mutat on November 01, 2009
Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young. Diabetes Care (2012) 1.95
Effects of MK-0941, a novel glucokinase activator, on glycemic control in insulin-treated patients with type 2 diabetes. Diabetes Care (2011) 1.70
Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations. Diabetes Care (2010) 1.58
Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes. Am J Hum Genet (2013) 1.43
Congenital hyperinsulinism: current status and future perspectives. Ann Pediatr Endocrinol Metab (2014) 1.16
Small molecule glucokinase activators disturb lipid homeostasis and induce fatty liver in rodents: a warning for therapeutic applications in humans. Br J Pharmacol (2013) 1.14
Derivation of human induced pluripotent stem cells from patients with maturity onset diabetes of the young. J Biol Chem (2013) 1.06
Diabetes mellitus: The epidemic of the century. World J Diabetes (2015) 1.06
Exome sequencing and genetic testing for MODY. PLoS One (2012) 1.00
Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. Mol Genet Metab (2014) 0.99
Glucokinase activators for diabetes therapy: May 2010 status report. Diabetes Care (2011) 0.96
Homotropic allosteric regulation in monomeric mammalian glucokinase. Arch Biochem Biophys (2011) 0.94
Order-disorder transitions govern kinetic cooperativity and allostery of monomeric human glucokinase. PLoS Biol (2012) 0.94
Moving on from GWAS: functional studies on the G6PC2 gene implicated in the regulation of fasting blood glucose. Curr Diab Rep (2013) 0.92
G6PC2: a negative regulator of basal glucose-stimulated insulin secretion. Diabetes (2012) 0.92
Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans. J Biol Chem (2011) 0.91
New opportunities: harnessing induced pluripotency for discovery in diabetes and metabolism. Cell Metab (2013) 0.90
SUMOylation of pancreatic glucokinase regulates its cellular stability and activity. J Biol Chem (2013) 0.89
Many faces of monogenic diabetes. J Diabetes Investig (2014) 0.89
Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy. PLoS One (2012) 0.89
Solution NMR Spectroscopy for the Study of Enzyme Allostery. Chem Rev (2016) 0.87
Structural basis for regulation of human glucokinase by glucokinase regulatory protein. Biochemistry (2013) 0.87
Metabolite profiling reveals normal metabolic control in carriers of mutations in the glucokinase gene (MODY2). Diabetes (2012) 0.87
Mutational analysis of allosteric activation and inhibition of glucokinase. Biochem J (2011) 0.87
A phospho-BAD BH3 helix activates glucokinase by a mechanism distinct from that of allosteric activators. Nat Struct Mol Biol (2013) 0.85
Binding of ATP at the active site of human pancreatic glucokinase--nucleotide-induced conformational changes with possible implications for its kinetic cooperativity. FEBS J (2011) 0.85
Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2). Theranostics (2014) 0.85
Small molecular glucokinase activators: has another new anti-diabetic therapeutic lost favour? Br J Pharmacol (2013) 0.84
Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia. PLoS One (2012) 0.83
Clinical utility gene card for: Maturity-onset diabetes of the young. Eur J Hum Genet (2014) 0.83
A panel of diverse assays to interrogate the interaction between glucokinase and glucokinase regulatory protein, two vital proteins in human disease. PLoS One (2014) 0.82
Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis. Diabetes Care (2012) 0.82
Susceptibility of glucokinase-MODY mutants to inactivation by oxidative stress in pancreatic β-cells. Diabetes (2011) 0.82
Normal glucose metabolism in carnivores overlaps with diabetes pathology in non-carnivores. Front Endocrinol (Lausanne) (2013) 0.82
Thermal stability of glucokinase (GK) as influenced by the substrate glucose, an allosteric glucokinase activator drug (GKA) and the osmolytes glycerol and urea. Biochim Biophys Acta (2012) 0.81
Functional characterization of MODY2 mutations highlights the importance of the fine-tuning of glucokinase and its role in glucose sensing. PLoS One (2012) 0.81
The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY. Diabetologia (2011) 0.81
Dual allosteric activation mechanisms in monomeric human glucokinase. Proc Natl Acad Sci U S A (2015) 0.81
Pathogenesis of the metabolic syndrome: insights from monogenic disorders. Mediators Inflamm (2013) 0.80
Characterization of the heterozygous glucokinase knockout mouse as a translational disease model for glucose control in type 2 diabetes. Br J Pharmacol (2014) 0.80
Evolution of hepatic glucose metabolism: liver-specific glucokinase deficiency explained by parallel loss of the gene for glucokinase regulatory protein (GCKR). PLoS One (2013) 0.80
Reclassification of diabetes etiology in a family with multiple diabetes phenotypes. J Clin Endocrinol Metab (2014) 0.80
Present status of clinical deployment of glucokinase activators. J Diabetes Investig (2014) 0.80
Mouse models and type 2 diabetes: translational opportunities. Mamm Genome (2011) 0.79
Expression of the human glucokinase gene: important roles of the 5' flanking and intron 1 sequences. PLoS One (2012) 0.79
Analysis of the co-operative interaction between the allosterically regulated proteins GK and GKRP using tryptophan fluorescence. Biochem J (2014) 0.79
Something old, something new and something very old: drugs for treating type 2 diabetes. Br J Pharmacol (2014) 0.79
The role of pancreatic imaging in monogenic diabetes mellitus. Nat Rev Endocrinol (2011) 0.78
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. Hum Mol Genet (2014) 0.78
GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation. Biochim Biophys Acta (2012) 0.78
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes. Endocr Rev (2016) 0.78
Maturity-Onset Diabetes of the Young: What Do Clinicians Need to Know? Diabetes Metab J (2015) 0.78
Current understanding of K ATP channels in neonatal diseases: focus on insulin secretion disorders. Acta Pharmacol Sin (2011) 0.77
Insight into the biochemical characteristics of a novel glucokinase gene mutation. Hum Genet (2010) 0.77
Lack of glibenclamide response in a case of permanent neonatal diabetes caused by incomplete inactivation of glucokinase. JIMD Rep (2015) 0.77
Chronic glucokinase activator treatment at clinically translatable exposures gives durable glucose lowering in two animal models of type 2 diabetes. Br J Pharmacol (2014) 0.77
Diagnosis of monogenic diabetes: 10-Year experience in a large multi-ethnic diabetes center. J Diabetes Investig (2015) 0.77
Adolescent non-adherence reveals a genetic cause for diabetes. Diabet Med (2015) 0.77
When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes. Rev Diabet Stud (2016) 0.76
A glucokinase gene mutation in a young boy with diabetes mellitus, hyperinsulinemia, and insulin resistance. Int Med Case Rep J (2017) 0.75
GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation. ISRN Pediatr (2011) 0.75
Hyperglycemia Induced by Glucokinase Deficiency Accelerates Atherosclerosis Development and Impairs Lesion Regression in Combined Heterozygous Glucokinase and the Apolipoprotein E-Knockout Mice. J Diabetes Res (2016) 0.75
A Single Nucleotide Variant in HNF-1β is Associated with Maturity-Onset Diabetes of the Young in a Large Chinese Family. Iran J Public Health (2016) 0.75
Clinical assessment of HNF1A and GCK variants and identification of a novel mutation causing MODY2. Diabetes Res Clin Pract (2012) 0.75
Role of connecting loop I in catalysis and allosteric regulation of human glucokinase. Protein Sci (2014) 0.75
A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins. Diabetol Metab Syndr (2015) 0.75
Dissecting diabetes/metabolic disease mechanisms using pluripotent stem cells and genome editing tools. Mol Metab (2015) 0.75
Cloning and characterization of feline islet glucokinase. BMC Vet Res (2014) 0.75
GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated. Acta Diabetol (2016) 0.75
Asymptomatic Congenital Hyperinsulinism due to a Glucokinase-Activating Mutation, Treated as Adrenal Insufficiency for Twelve Years. Case Rep Endocrinol (2017) 0.75
Association of prediabetes-associated single nucleotide polymorphisms with microalbuminuria. PLoS One (2017) 0.75
GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey. Clin Endocrinol (Oxf) (2016) 0.75
Insights into the role of neuronal glucokinase. Am J Physiol Endocrinol Metab (2016) 0.75
Monogenic diabetes and pregnancy. Obstet Med (2015) 0.75
Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing. Endocrinol Metab (Seoul) (2017) 0.75
Tryptophan Fluorescence Yields and Lifetimes as a Probe of Conformational Changes in Human Glucokinase. J Fluoresc (2017) 0.75
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science (2007) 37.88
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science (2007) 32.97
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med (2004) 8.62
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med (2006) 7.31
Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab (2008) 3.80
Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A (2007) 3.77
Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia. Blood (2007) 3.73
PTEN mutations as a cause of constitutive insulin sensitivity and obesity. N Engl J Med (2012) 3.39
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med (2007) 3.17
AIP mutation in pituitary adenomas in the 18th century and today. N Engl J Med (2011) 3.14
Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat Genet (2004) 3.09
The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver. Hum Mol Genet (2009) 3.07
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet (2008) 3.06
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes (2007) 3.00
Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group. Haematologica (2005) 2.66
Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care (2007) 2.62
Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia. N Engl J Med (2014) 2.47
A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med (2009) 2.30
Human β cell transcriptome analysis uncovers lncRNAs that are tissue-specific, dynamically regulated, and abnormally expressed in type 2 diabetes. Cell Metab (2012) 2.22
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. Diabetes (2011) 2.21
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes (2004) 2.10
Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genet Test Mol Biomarkers (2010) 2.09
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. Hum Mutat (2009) 2.07
Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome. PLoS One (2010) 1.99
Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young. Diabetes Care (2012) 1.95
Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet (2011) 1.94
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nat Genet (2013) 1.91
Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev (2011) 1.89
The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development. Diabetes (2008) 1.88
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Hum Mutat (2006) 1.88
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. J Clin Endocrinol Metab (2011) 1.87
High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood (2012) 1.84
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science (2008) 1.84
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum Mol Genet (2006) 1.83
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet (2011) 1.77
Transcription factor HNF1beta and novel partners affect nephrogenesis. Kidney Int (2008) 1.73
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. Proc Natl Acad Sci U S A (2004) 1.72
A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One (2012) 1.72
Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol (2005) 1.70
Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. Diabet Med (2011) 1.68
HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months. Diabetes (2006) 1.66
Congenital hyperinsulinism: current trends in diagnosis and therapy. Orphanet J Rare Dis (2011) 1.63
Reduced insulin exocytosis in human pancreatic β-cells with gene variants linked to type 2 diabetes. Diabetes (2012) 1.61
Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome. Haematologica (2012) 1.59
Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations. Diabetes Care (2010) 1.58
Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys. J Am Soc Nephrol (2007) 1.56
Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum Mol Genet (2005) 1.52
Mesangiocapillary glomerulonephritis type 2 associated with familial partial lipodystrophy (Dunnigan-Kobberling syndrome). Nephron Clin Pract (2004) 1.51
Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes. Diabetes Care (2003) 1.50
Persistently autoantibody negative (PAN) type 1 diabetes mellitus in children. Pediatr Diabetes (2010) 1.48
Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1-{alpha}/hepatocyte nuclear factor 4-{alpha} maturity-onset diabetes of the young from long-duration type 1 diabetes. Diabetes Care (2011) 1.48
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Hum Mutat (2005) 1.47
Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms. Blood (2009) 1.47
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. J Clin Endocrinol Metab (2007) 1.47
Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3. Diabetes (2011) 1.47
Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes (2004) 1.43
Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. Kidney Int (2003) 1.39
Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis. J Exp Med (2012) 1.39
Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers. Diabetes Care (2002) 1.38
Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel. J Clin Endocrinol Metab (2004) 1.38
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proc Natl Acad Sci U S A (2010) 1.36
3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity. J Clin Endocrinol Metab (2009) 1.36
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. Diabetes (2012) 1.36
Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. J Clin Endocrinol Metab (2009) 1.35
Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations. Diabetes (2003) 1.33
Concordance of assays designed for the quantification of JAK2V617F: a multicenter study. Haematologica (2008) 1.33
A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome. EMBO Rep (2005) 1.32
Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities. Diabetes (2010) 1.30
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet A (2008) 1.30
Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat (2006) 1.29
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol (2009) 1.29
A putative functional polymorphism in the IGF-I gene: association studies with type 2 diabetes, adult height, glucose tolerance, and fetal growth in U.K. populations. Diabetes (2002) 1.29
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11. Rev Endocr Metab Disord (2010) 1.28
High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes. Diabetes Care (2011) 1.28
Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations. Diabetes (2008) 1.27
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. Eur J Endocrinol (2013) 1.26
Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth. J Clin Endocrinol Metab (2013) 1.26
A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis. Am J Med Genet A (2008) 1.25
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. Eur J Hum Genet (2006) 1.25
Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes. Hum Mol Genet (2006) 1.25
The miRNA profile of human pancreatic islets and beta-cells and relationship to type 2 diabetes pathogenesis. PLoS One (2013) 1.25
Antenatal diagnosis of fetal genotype determines if maternal hyperglycemia due to a glucokinase mutation requires treatment. Diabetes Care (2012) 1.25
Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. Eur J Endocrinol (2009) 1.23
Coexpression of the type 2 diabetes susceptibility gene variants KCNJ11 E23K and ABCC8 S1369A alter the ATP and sulfonylurea sensitivities of the ATP-sensitive K(+) channel. Diabetes (2009) 1.22
Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. Hum Mol Genet (2005) 1.22
Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet (2004) 1.19
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. BMC Genet (2007) 1.19
Evaluation of serum 1,5 anhydroglucitol levels as a clinical test to differentiate subtypes of diabetes. Diabetes Care (2009) 1.18