Condition: Monogenic diabetes


rs1057524900 in GCK gene and Monogenic diabetes 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 17204055 2007 Six novel mutations in the GCK gene in MODY patients.

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 14517956 2003 Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).

PMID 16602010 2006 Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents.

PMID 14517946 2003 Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

PMID 19790256 2009 Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

PMID 19150152 2009 Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.

PMID 19339519 2009 Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

PMID 19358091 2009 Glucokinase gene mutation screening in Argentinean clinically characterized MODY patients.

PMID 17573900 2007 Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

PMID 22493702 2012 Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.

PMID 25015100 2014 Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

PMID 11942313 2002 To: Lindner T, Cockburn BN, Bell GI (1999). Molecular genetics of MODY in Germany. Diabetologia 42: 121-123.

PMID 22611063 2012 Both our functional and genetic studies support R43H as the cause of GCK-MODY and G68D as a neutral rare variant.

rs1057524903 in GCK;LOC105375258 gene and Monogenic diabetes PMID 16731834 2006 From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.

PMID 18399931 2008 Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.

PMID 21104275 2011 Insight into the biochemical characteristics of a novel glucokinase gene mutation.

rs1057524908 in HNF1A gene and Monogenic diabetes 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 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 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 10585442 1999 Anatomy of a homeoprotein revealed by the analysis of human MODY3 mutations.

PMID 9313763 1997 Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM.

PMID 15726414 2005 Homeodomain revisited: a lesson from disease-causing mutations.

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 19150152 2009 Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype.

rs1057524896 in HNRNPUL2-BSCL2;BSCL2 gene and Monogenic diabetes PMID 23430896 2012 A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction.

rs1057524907 in INS-IGF2;INS gene and Monogenic diabetes PMID 20226046 2010 Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).

PMID 18192540 2008 Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.

PMID 17855560 2007 Insulin gene mutations as a cause of permanent neonatal diabetes.

PMID 25542748 2015 INS-gene mutations: from genetics and beta cell biology to clinical disease.

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.

rs11575937 in LMNA gene and Monogenic diabetes PMID 16415042 2006 Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy.

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 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 23853504 2013 Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.

PMID 10587585 2000 Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

PMID 22700598 2012 Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.

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 2007407 1991 Isolation and characterization of catalytic and calmodulin-binding domains of Bordetella pertussis adenylate cyclase.

PMID 10655060 2000 LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

PMID 23313286 2013 Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.

PMID 10999845 2000 Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy.

PMID 15219508 2004 Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.

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.

PMID 24080738 2013 Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA.

rs1057524904 in LOC105375258;GCK gene and Monogenic diabetes PMID 19790256 2009 Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

PMID 17204055 2007 Six novel mutations in the GCK gene in MODY patients.

PMID 19564454 2009 Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families.

PMID 16965331 2006 Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.

PMID 19339519 2009 Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

PMID 14517946 2003 Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

rs369841551 in MC4R gene and Monogenic diabetes PMID 10592235 2000 The Protein Data Bank.

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 12646665 2003 Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene.

PMID 27654141 2017 Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort.