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A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity
TLDR
A genome-wide search for type 2 diabetes–susceptibility genes identified a common variant in the FTO (fat mass and obesity associated) gene that predisposes to diabetes through an effect on body mass index (BMI). Expand
Replication of Genome-Wide Association Signals in UK Samples Reveals Risk Loci for Type 2 Diabetes
TLDR
These findings provide insight into the genetic architecture of type 2 diabetes, emphasizing the contribution of multiple variants of modest effect and underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 1 diabetes. Expand
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
TLDR
Heterozygous activating mutations in the gene encoding Kir6.2 cause permanent neonatal diabetes and may also be associated with developmental delay, muscle weakness, and epilepsy, and Identification of the genetic cause of permanent newborn diabetes may facilitate the treatment of this disease with sulfonylureas. Expand
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.
TLDR
Sulfonylurea therapy is safe in the short term for patients with diabetes caused by KCNJ11 mutations and is probably more effective than insulin therapy, and may result from the closing of mutant K(ATP) channels, thereby increasing insulin secretion in response to incretins and glucose metabolism. Expand
Update on mutations in glucokinase (GCK), which cause maturity‐onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia
TLDR
The identification of a GCK mutation in patients with both hyper‐ and hypoglycemia has implications for the clinical course and clinical management of their disorder. Expand
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
TLDR
It is reported that mutations in ZFP57, which encodes a zinc-finger transcription factor expressed in early development, are reported in seven pedigrees with a shared pattern of mosaic hypomethylation and a conserved range of clinical features. Expand
Maturity-onset diabetes of the young (MODY): how many cases are we missing?
TLDR
The regional distribution of confirmed MODY cases in the UK is compared and the minimum prevalence is estimated to be 108 cases per million, assuming >80% of MODY is not diagnosed by molecular testing. Expand
Insulin gene mutations as a cause of permanent neonatal diabetes
TLDR
Ten heterozygous mutations in the human insulin gene are reported in 16 probands with neonatal diabetes, and it is predicted that they prevent normal folding and progression of proinsulin in the insulin secretory pathway. Expand
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
TLDR
Best practice guidelines have been established for monogenic forms of diabetes caused by mutations in the GCK, HNF1A and HNF4A genes, which include both diagnostic and predictive genetic tests and interpretation of the results. Expand
Clinical implications of a molecular genetic classification of monogenic β-cell diabetes
TLDR
It is proposed that the old clinical classifications of maturity-onset diabetes of the young and neonatal diabetes are obsolete and that specific genetic etiologies should be sought in four broad clinical situations because of their specific treatment implications. Expand
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