R Murphy, S Ellard, AT Hattersley - Nature Clinical Practice Endocrinology & Metabolism, 2008 - nature.com Sian Ellard is Professor of Human Molecular Genetics, Peninsula Medical School,
Exeter, UK. Following research training at the University of Swansea (UK), she
set up the Molecular Genetics Laboratory in Exeter with Professor Andrew ... Cited by 31 - Related articles - BL Direct - All 6 versions
- ►endojournals.org L Aguilar-Bryan, J Bryan - Endocrine Reviews, 2008 - Endocrine Soc An explosion of work over the last decade has produced insight into the multiple
hereditary causes of a nonimmunological form of diabetes diagnosed most
frequently within the first 6 months of life. These studies are providing ... Cited by 15 - Related articles - BL Direct - All 6 versions
K Shimomura, F Horster, H de Wet, SE Flanagan … - Neurology, 2007 - AAN Enterprises Objectives: Activating mutations in the human KCNJ11 gene, encoding the
pore-forming subunit (Kir6.2) of the ATP-sensitive potassium (K ATP ) channel,
are one cause of neonatal diabetes mellitus. In a few patients, KCNJ11 ... Cited by 15 - Related articles - All 4 versions
- ►physiology.org FM Ashcroft - American Journal of Physiology- Endocrinology And …, 2007 - Am Physiological Soc This essay is based on a lecture given to the American Physiological Society in
honor of Walter B. Cannon, an advocate of homeostasis. It focuses on the role of
the ATP-sensitive potassium K + (K ATP ) channel in glucose homeostasis ... Cited by 12 - Related articles - BL Direct - All 2 versions
C Colombo, O Porzio, M Liu, O Massa, M Vasta, … - The Journal of Clinical Investigation, 2008 - pubmedcentral.nih.gov 1 Laboratory of Molecular Endocrinology and Metabolism, Bambino Gesù Children's
Hospital, Scientific Institute (IRCCS), Rome, Italy. 2 Department of Internal
Medicine, University of Tor Vergata, Rome, Italy. 3 Division of Metabolism, ... Cited by 13 - Related articles - BL Direct - All 8 versions
- ►endojournals.org JC Koster, F Cadario, C Peruzzi, C Colombo, … - Journal of Clinical Endocrinology & Metabolism, 2008 - Endocrine Soc Context: Mutations in the Kir6.2 subunit (KCNJ11) of the ATP-sensitive potassium
channel (K ATP ) underlie neonatal diabetes mellitus. In severe cases, Kir6.2
mutations underlie developmental delay, epilepsy, and neonatal diabetes ... Cited by 12 - Related articles - BL Direct - All 5 versions
- ►shouxi.net R Masia, DD De Leon, C MacMullen, H … - Diabetes, 2007 - Am Diabetes Assoc RESULTS—L225P-containing K ATP channels were significantly more active in the
intact cell than in wild-type channels. In excised membrane patches, L225P
increased channel sensitivity to stimulatory Mg nucleotides without ... Cited by 12 - Related articles - BL Direct - All 6 versions
- ►nih.gov P Tammaro, SE Flanagan, B Zadek, S … - Diabetologia, 2008 - Springer Abstract Aims/hypothesis Heterozygous activating mutations in the pancreatic
ATP-sensitive K+ channel cause permanent neonatal diabetes mellitus (PNDM). This
results from a decrease in the ability of ATP to close the channel, which ... Cited by 4 - Related articles - BL Direct - All 7 versions
SE Flanagan, S Clauin, C Bellanné-Chantelot, … - Hum Mutat, 2009 - interscience.wiley.com The beta-cell ATP-sensitive potassium (K ATP ) channel is a key component of
stimulus-secretion coupling in the pancreatic beta-cell. The channel couples
metabolism to membrane electrical events bringing about insulin secretion. ... Cited by 4 - Related articles - All 3 versions
F Barbetti, 2007 - content.karger.com Abstract: Until 1995, the etiology of 'neonatal' diabetes was totally unknown.
In about a decade, mutations in 8 different genes (IPF1, EIF2AK3, GK, FOXP3,
KCNJ11, ABCC8, PTF1A and GLIS3) have been discovered in patients with the ... Cited by 3 - Related articles - BL Direct - All 2 versions
