Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection
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Maturity-Onset Diabetes of the Young: What Do Clinicians Need to Know?Structural Basis of Natural Promoter Recognition by a Unique Nuclear Receptor, HNF4 : DIABETES GENE PRODUCTMultiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrationsMacrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A geneHuman genetics as a model for target validation: finding new therapies for diabetes.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.Precision diabetes: learning from monogenic diabetes.Mutations in the coding regions of the hepatocyte nuclear factor 4 alpha in Iranian families with maturity onset diabetes of the youngDiazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.Digenic heterozygous HNF1A and HNF4A mutations in two siblings with childhood-onset diabetes.Genetic causes of high and low serum HDL-cholesterol.Exome sequencing and genetic testing for MODY.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.Association of stearoyl-CoA desaturase 1 activity with familial combined hyperlipidemia.ReNE: a cytoscape plugin for regulatory network enhancement.Clinical features and treatment of maturity onset diabetes of the young (MODY).Monogenic models: what have the single gene disorders taught us?Examination of Rare Variants in HNF4 α in European Americans with Type 2 DiabetesBest practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.Defining the genetic aetiology of monogenic diabetes can improve treatment.Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approachMonogenic diabetes in children and young adults: Challenges for researcher, clinician and patient.Transcriptional Regulation of X-Box-binding Protein One (XBP1) by Hepatocyte Nuclear Factor 4α (HNF4Α) Is Vital to Beta-cell FunctionClinical application of 1,5-anhydroglucitol measurements in patients with hepatocyte nuclear factor-1alpha maturity-onset diabetes of the young.When to consider a diagnosis of MODY at the presentation of diabetes: aetiology matters for correct management.Effects of hepatocyte nuclear factor-1A and -4A on pancreatic stone protein/regenerating protein and C-reactive protein gene expression: implications for maturity-onset diabetes of the young.Molecular diagnosis of maturity onset diabetes of the young in India.Characteristics of maturity onset diabetes of the young in a large diabetes center.Down-regulation of hepatic HNF4alpha gene expression during hyperinsulinemia via SREBPs.Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humansCost-effectiveness of MODY genetic testing: translating genomic advances into practical health applications.Candidate gene association study of coronary artery calcification in chronic kidney disease: findings from the CRIC study (Chronic Renal Insufficiency Cohort).Management of sulfonylurea-treated monogenic diabetes in pregnancy: implications of placental glibenclamide transfer.When is it MODY? Challenges in the Interpretation of Sequence Variants in MODY Genes.Genetic disorders of nuclear receptors.Efficacy and safety of alogliptin in a pediatric patient with maturity-onset diabetes of the young type 1.Evaluation of Apolipoprotein M Serum Concentration as a Biomarker of HNF-1alpha MODYClinical heterogeneity of abnormal glucose homeostasis associated with the HNF4A R311H mutation.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.De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.
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Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection
description
article
@en
im April 2005 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована у квітні 2005
@uk
name
Molecular genetics and phenoty ...... in a large European collection
@en
Molecular genetics and phenoty ...... in a large European collection
@nl
type
label
Molecular genetics and phenoty ...... in a large European collection
@en
Molecular genetics and phenoty ...... in a large European collection
@nl
altLabel
Molecular genetics and phenoty ...... n a large European collection.
@en
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Molecular genetics and phenoty ...... in a large European collection
@en
Molecular genetics and phenoty ...... in a large European collection
@nl
P2093
P50
P1433
P1476
Molecular genetics and phenoty ...... in a large European collection
@en
P2093
A. Johansen
A. S. Wierzbicki
A. T. Hattersley
C. J. Tack
H. A. J. Castleden
O. Pedersen
P. J. Lumb
P. M. Clark
S. Pruhova
P2888
P304
P356
10.1007/S00125-005-1738-Y
P407
P577
2005-04-14T00:00:00Z