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Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation.
(Karger, 2015)Neonatal diabetes is a rare form of diabetes, characterized by onset in the first 6 months of life. A number of cases are due to pancreas agenesis. Recently, PTF1A enhancer mutations have been shown to cause neonatal ... -
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency.
(Highwire, 2013-03)We recently reported de novo GATA6 mutations as the most common cause of pancreatic agenesis, accounting for 15 of 27 (56%) patients with insulin-treated neonatal diabetes and exocrine pancreatic insufficiency requiring ... -
Stopping insulin injections following genetic testing in diabetes: impact on identity.
(Wiley, 2010-07)Identification of genes causing monogenic diabetes has led to treatment change, from insulin to sulphonylureas for many previously considered insulin dependent. Changing treatment has led to improved glycaemic control and ... -
beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.
(Highwire, 2001-02)beta-Cell transcription factor genes are important in the pathophysiology of the beta-cell, with mutations in hepatocyte nuclear factor (HNF)-1alpha, HNF-4alpha, insulin promoter factor (IPF)-1, HNF-1beta, and NeuroD1/BETA2, ... -
Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene.
(Highwire, 2002-07)Monogenic human disorders have been used as paradigms for complex genetic disease and as tools for establishing important insights into mechanisms of gene regulation and transcriptional control. Maturity-onset diabetes of ... -
Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young.
(Springer, 2002-10)Mutations in the HNF-1 alpha gene result in maturity-onset diabetes of the young (MODY); an early-onset, dominantly inherited form of diabetes caused by pancreatic beta-cell dysfunction. Splice site mutations represent ... -
Heterogeneity in young adult onset diabetes: aetiology alters clinical characteristics.
(Wiley, 2002-09)To describe the characteristics of hepatocyte nuclear factor (HNF) 1 alpha mutation carriers diagnosed with diabetes after 25 years and compare them with young-onset Type 2 diabetic patients (YT2D) diagnosed at the same age. -
A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.
(Springer, 2000-02)Patients with glucokinase mutations are characterised by mild, persistent fasting hyperglycaemia, a small increment in glucose in response to an oral load and a dominant family history. These patients frequently present ... -
Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers.
(Highwire, 2002-12)In animals, experimentally induced maternal hyperglycemia during pregnancy results in hyperglycemic offspring. Similarly, Pima Indian offspring with mothers who are diabetic at the time of pregnancy have increased risk of ... -
Predictive genetic testing in diabetes: a case study of multiple perspectives.
(Sage, 2000-03)Genetic testing is now possible in maturity onset diabetes of the young (MODY), an unusual genetic subtype of diabetes. To date, there has been no research into the implications of genetic testing for MODY families. The ...