Condition: Hyperglycemia
rs1057524900 in
GCK gene and
Hyperglycemia
PMID 14517956 2003 Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).
PMID 22035297 2012 Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort.
PMID 20337973 2010 Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.
PMID 16602010 2006 Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents.
PMID 17204055 2007 Six novel mutations in the GCK gene in MODY patients.
PMID 19150152 2009 Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.
PMID 19790256 2009 Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
PMID 14517946 2003 Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
PMID 19339519 2009 Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
PMID 19187021 2009 The glucokinase V62M and G72R mutations are naturally occurring and known to associate with hyperglycemia in humans.
PMID 17389332 2007 These results suggest that cellular loss of GK catalytic activity rather than impaired translation or enhanced protein degradation may account for the hyperglycemia in subjects with V62M and G72R mutations.
PMID 18399931 2008 Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.
PMID 27271189 2016 Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes.
PMID 15677479 2005 We studied the GCK V62M mutation identified in two families and co-segregating with hyperglycemia to understand how this mutation resulted in reduced function.
PMID 9736233 1998 A missense mutation, Val62Ala, in the glucokinase gene in a Norwegian family with maturity-onset diabetes of the young.
PMID 16731834 2006 From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.
PMID 11079754 2000 "MODY 2 presenting as neonatal hyperglycaemia: a need to reshape the definition of ""neonatal diabetes""?"
PMID 25182307 2014 ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents.
PMID 11508276 2001 High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI.
PMID 17573900 2007 Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.
PMID 25015100 2014 Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
PMID 22493702 2012 Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.
PMID 19358091 2009 Glucokinase gene mutation screening in Argentinean clinically characterized MODY patients.
PMID 11942313 2002 To: Lindner T, Cockburn BN, Bell GI (1999). Molecular genetics of MODY in Germany. Diabetologia 42: 121-123.
PMID 22611063 2012 Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.
rs1057524903 in
GCK;LOC105375258 gene and
Hyperglycemia
PMID 21104275 2011 Insight into the biochemical characteristics of a novel glucokinase gene mutation.
PMID 18399931 2008 Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.
PMID 16731834 2006 From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.
PMID 10753050 2000 A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.
PMID 16965331 2006 Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.
PMID 18411240 2008 Long-term follow-up of oral glucose tolerance test-derived glucose tolerance and insulin secretion and insulin sensitivity indexes in subjects with glucokinase mutations (MODY2).
PMID 16632067 2006 Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients.
PMID 22060211 2012 Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus.
PMID 11508276 2001 High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI.
PMID 23295292 2012 Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects.
PMID 18382660 2008 Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.
PMID 19309449 2009 Mild fasting hyperglycemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus.
PMID 16444761 2006 Glucokinase mutations in young children with hyperglycemia.
PMID 19790256 2009 Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
rs1057524908 in
HNF1A gene and
Hyperglycemia
PMID 11463573 2001 Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences.
PMID 11058894 2000 Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.
PMID 23348805 2013 Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.
PMID 18003757 2008 The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3.
PMID 9032114 1997 Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4.
PMID 15726414 2005 Homeodomain revisited: a lesson from disease-causing mutations.
PMID 19150152 2009 Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.
PMID 9313763 1997 Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM.
PMID 10585442 1999 Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations.
PMID 19339519 2009 Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
PMID 12453976 2002 Determinants of the development of diabetes (maturity-onset diabetes of the young-3) in carriers of HNF-1alpha mutations: evidence for parent-of-origin effect.
PMID 9439666 1997 A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes.
PMID 11272211 2001 beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.
PMID 25414397 2014 Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital.
PMID 9075818 1997 Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K.
rs1375557127 in
HNF4A gene and
Hyperglycemia
PMID 24947580 2014 Clinical heterogeneity of abnormal glucose homeostasis associated with the HNF4A R311H mutation.
PMID 10768098 2000 Analysis of the HNF4 alpha gene in Caucasian type II diabetic nephropathic patients.
PMID 23485969 2013 Multidomain integration in the structure of the HNF-4α nuclear receptor complex.
PMID 16917892 2006 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.
PMID 26059258 2016 Characteristics of maturity onset diabetes of the young in a large diabetes center.
PMID 23348805 2013 Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.
PMID 15830177 2005 Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection.
PMID 193395 1977 Cancer in chronic ulcerative colitis. Diagnostic role of segmental colonic lavage.
PMID 17407387 2007 Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.
rs1057524907 in
INS-IGF2;INS gene and
Hyperglycemia
PMID 25542748 2015 INS-gene mutations: from genetics and beta cell biology to clinical disease.
PMID 18192540 2008 Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
PMID 18162506 2008 Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
PMID 20226046 2010 Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).
PMID 17855560 2007 Insulin gene mutations as a cause of permanent neonatal diabetes.
rs1564865302 in
KCNJ11 gene and
Hyperglycemia
PMID 22701567 2012 Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.
PMID 21210267 2011 Neonatal diabetes mellitus due to L233F mutation in the KCNJ11 gene.
PMID 27033559 2016 Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.
PMID 21054355 2011 Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants.
rs11575937 in
LMNA gene and
Hyperglycemia
PMID 10739751 2000 Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.
PMID 16364671 2006 Laminopathies: multisystem dystrophy syndromes.
PMID 10868844 2000 Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance.
PMID 10999845 2000 Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy.
PMID 23853504 2013 Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.
PMID 23313286 2013 Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.
PMID 10587585 2000 Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
PMID 19201734 2009 The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation.
PMID 22700598 2012 Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.
PMID 10655060 2000 LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
PMID 16415042 2006 Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy.
PMID 2007407 1991 Isolation and characterization of catalytic and calmodulin-binding domains of Bordetella pertussis adenylate cyclase.
PMID 15219508 2004 Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.
PMID 24080738 2013 Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA.
PMID 20074070 2010 Genotype-phenotype correlations in laminopathies: how does fate translate?
PMID 2270059 1990 Diagnostic validity of the MAST and the alcohol dependence scale in the assessment of DSM-III alcohol disorders.
rs1057524904 in
LOC105375258;GCK gene and
Hyperglycemia
PMID 17204055 2007 Six novel mutations in the GCK gene in MODY patients.
PMID 19790256 2009 Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.
PMID 19564454 2009 Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families.
PMID 14517946 2003 Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.
PMID 19339519 2009 Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
PMID 16965331 2006 Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.
PMID 24735133 2015 Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype.
PMID 18382660 2008 Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.
PMID 12442280 2002 GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY).
PMID 16731834 2006 From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.
PMID 22820548 2012 GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.
rs369841551 in
MC4R gene and
Hyperglycemia
PMID 10199800 1999 Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans.
PMID 10592235 2000 The Protein Data Bank.
PMID 27654141 2017 Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort.
PMID 12646665 2003 Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.
rs1385251852 in
MIR3646;HNF4A gene and
Hyperglycemia
PMID 23348805 2013 Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.
PMID 16917892 2006 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.
PMID 10592235 2000 The Protein Data Bank.
PMID 23485969 2013 Multidomain integration in the structure of the HNF-4α nuclear receptor complex.