R Murphy, S Ellard, AT Hattersley - Nature Clinical Practice Endocrinology …, 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 Hattersley in 1995. Her research is ... Cited by 31 - Related articles - BL Direct - All 6 versions
JPH Shield - Hormone Research, 2007 - content.karger.com Background: Nine distinct genetic conditions have been identified in the last 12 years causing
neonatal diabetes mellitus through failure of normal pancreatic development, islet cell dysfunction
or -cell destruction. This review will focus on the three conditions about which our ... Cited by 21 - Related articles - BL Direct - All 8 versions
- ►diabetesjournals.org M Rafiq, SE Flanagan, AM Patch, BM Shields, S … - Diabetes Care, 2008 - Am Diabetes Assoc OBJECTIVE—Neonatal diabetes can result from mutations in the Kir6.2 or sulfonylurea receptor
1 (SUR1) subunits of the ATP-sensitive K + channel. Transfer from insulin to oral sulfonylureas
in patients with neonatal diabetes due to Kir6.2 mutations is well described, but less is ... Cited by 19 - Related articles - BL Direct - All 5 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 increased understanding of genes involved in the entire ... Cited by 15 - Related articles - BL Direct - All 6 versions
- ►diabetesjournals.org M Polak, A Dechaume, H Cavé, R Nimri, H Crosnier, V … - Diabetes, 2008 - Am Diabetes Assoc OBJECTIVE—Permanent neonatal diabetes (PND) is defined by chronic hyperglycemia due
to severe nonautoimmune insulin deficiency diagnosed in the first months of life. Several
genes, including KCNJ11 and ABCC8, which encode the two subunits of the ... Cited by 12 - Related articles - BL Direct - All 5 versions
I Flechtner, M Vaxillaire, H Cav├®, R … - Endocrine …, 2007 - content.karger.com Shield JPH, Scharfmann R (eds): Development of the Pancreas and Neonatal Diabetes. Endocr
Dev. Basel, Karger, 2007, vol 12, pp 86–98 ... Abstract ATP-sensitive potassium (K ATP ) channels
regulate the flux of K + ions across the cell membranes and cou- ... Isabelle Flechtner a ... Cited by 9 - Related articles - BL Direct - All 4 versions
- ►diabetesjournals.org JPH Shield, SE Flanagan, DJ Mackay, LW Harries, P … - Diabetes, 2008 - Am Diabetes Assoc OBJECTIVE— Activating mutations in the KCNJ11 and ABCC8 genes encoding the Kir6.2 and
SUR1 subunits of the pancreatic ATP-sensitive K + channel are the most common cause of permanent
neonatal diabetes. In contrast to KCNJ11, where only dominant heterozygous mutations ... Cited by 6 - Related articles - BL Direct - All 5 versions
J Støy, SAW Greeley, VP Paz, H Ye, AN … - Pediatric …, 2008 - pubmedcentral.nih.gov Mutations in KCNJ11, ABCC8, or INS are the cause of permanent neonatal diabetes mellitus
in about 50% of patients diagnosed with diabetes before 6 months of age and in a small fraction
of those diagnosed between 6 and 12 months. The aim of this study was to identify the ... Cited by 5 - Related articles - All 4 versions
SE Flanagan, S Clauin, C Bellanné-Chantelot, P de … - 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. Given the critical role of this channel in glucose ... Cited by 5 - Related articles - All 3 versions
O Rubio-Cabezas, F Díaz González, A … - Pediatr …, 2008 - interscience.wiley.com Abstract: Glucokinase deficiency is an unfrequent cause of permanent neonatal diabetes
(PND), as only seven patients have been reported, either homozygous for a missense or frameshift
mutation or compound heterozygous for both of them. We report here the first known case ... Cited by 6 - Related articles - All 2 versions
