Hyperinsulinism in infancy: from basic science to clinical disease

MJ Dunne, KE Cosgrove, RM Shepherd… - Physiological …, 2004 - journals.physiology.org
Dunne, Mark J., Karen E. Cosgrove, Ruth M. Shepherd, Albert Aynsley-Green, and Keith J.
Lindley. Hyperinsulinism in Infancy: From Basic Science to Clinical Disease. Physiol Rev 84 …

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

M Bitner-Glindzicz, KJ Lindley, P Rutland, D Blaydon… - Nature …, 2000 - nature.com
Usher syndrome type 1 describes the association of profound, congenital sensorineural
deafness, vestibular hypofunction and childhood onset retinitis pigmentosa 1. It is an …

[HTML][HTML] Oscillations of secretion driven by oscillations of cytoplasmic Ca2+ as evidences in single pancreatic islets.

P Gilon, RM Shepherd, JC Henquin - Journal of Biological Chemistry, 1993 - Elsevier
It is often assumed, but has not been demonstrated, that the oscillations of cytoplasmic
calcium (Ca2+ i) that occur in various secretory cells induce oscillations in secretion. Here …

[HTML][HTML] Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor

MJ Dunne, C Kane, RM Shepherd… - … England Journal of …, 1997 - Mass Medical Soc
Persistent hyperinsulinemic hypoglycemia of infancy is caused by inappropriate and
excessive secretion of insulin. Although the disease is rare in outbred communities …

Loss of functional KATP channels in pancreatic β–cells causes persistent hyperinsulinemic hypoglycemia of infancy

C Kane, RM Shepherd, PE Squires, PRV Johnson… - Nature medicine, 1996 - nature.com
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is a disorder of childhood
associated with inappropriate hypersecretion of insulin by the pancreas. The pathogenesis …

Glucose-dependent modulation of insulin secretion and intracellular calcium ions by GKA50, a glucokinase activator

D Johnson, RM Shepherd, D Gill, T Gorman… - Diabetes, 2007 - Am Diabetes Assoc
Because glucokinase is a metabolic sensor involved in the regulated release of insulin, we
have investigated the acute actions of novel glucokinase activator compound 50 (GKA50) on …

Potassium channels, sulphonylurea receptors and control of insulin release

MJ Dunne, KE Cosgrove, RM Shepherd… - Trends in Endocrinology …, 1999 - cell.com
Clinical profiles of the glucose regulation disorders persistent hyperinsulinaemic
hypoglycaemia of infancy (PHHI) and diabetes mellitus are diametrically opposed …

[HTML][HTML] PAX4 enhances beta-cell differentiation of human embryonic stem cells

CG Liew, NN Shah, SJ Briston, RM Shepherd… - PLoS …, 2008 - journals.plos.org
Background Human embryonic stem cells (HESC) readily differentiate into an apparently
haphazard array of cell types, corresponding to all three germ layers, when their culture …

Hyperinsulinism of infancy: towards an understanding of unregulated insulin release

RM Shepherd, KE Cosgrove, RE O'Brien… - Archives of Disease in …, 2000 - fn.bmj.com
Insulin is synthesised, stored, and secreted from pancreatic β cells. These are located within
the islets of Langerhans, which are distributed throughout the pancreas. Less than 2% of the …

Glucose modulation of insulin mRNA levels is dependent on transcription factor PDX-1 and occurs independently of changes in intracellular Ca2+.

WM Macfarlane, RM Shepherd, KE Cosgrove… - Diabetes, 2000 - Am Diabetes Assoc
Glucose regulates insulin production in pancreatic beta-cells in the long term by stimulating
insulin gene transcription. These effects are partially mediated through the activity of a …