- ►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
AI Tarasov, CA Girard, B Larkin, P Tammaro, … - Diabetes Obes …, 2007 - interscience.wiley.com Heterozygous activating mutations in Kir6.2 (KCNJ11), the pore-forming subunit of the adenosine
triphosphate (ATP)-sensitive potassium (K ATP ) channel, are a common cause of neonatal diabetes
(ND). We assessed the functional effects of two Kir6.2 mutations associated with ND: ... Cited by 2 - Related articles - All 2 versions
YM Chan, LM Laffel - Pediatric Diabetes, 2007 - interscience.wiley.com Abstract: Initial management of neonatal diabetes mellitus consists of insulin and adequate calories
for growth. Once a genetic diagnosis is made, most patients with neonatal diabetes caused by
mutations in the KCNJ11 gene can be successfully managed with a sulfonylurea agent ... Cited by 3 - Related articles - BL Direct - All 3 versions
H de Wet, MG Rees, K Shimomura, J … - Proceedings of the …, 2007 - National Acad Sciences Gain-of-function mutations in the genes encoding the ATP-sensitive potassium (K ATP ) channel
subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) are a common cause of neonatal diabetes
mellitus. Here we investigate the molecular mechanism by which two heterozygous ... Cited by 10 - Related articles - BL Direct - All 7 versions
RM Greer, J Shah, YW Jeske, D Brown, RM … - Pediatric and …, 2007 - pedpath.org In hyperinsulinism of infancy (HI), unregulated insulin secretion causes hypoglycemia. Pancreatectomy
may be required in severe cases, most of which result from a defect in the β-cell K ATP
channel, encoded by ABCC8 and KCNJ11. Pancreatic histology may be classified as ... Cited by 4 - Related articles - All 2 versions
K Hussain, SE Flanagan, VV Smith, M Ashworth, M Day … - Diabetes, 2008 - Am Diabetes Assoc OBJECTIVE— Congenital hyperinsulinism (CHI) may be due to diffuse or focal pancreatic
disease. The diffuse form is associated with an increase in the size of β-cell nuclei throughout
the whole of the pancreas and most commonly results from recessive ATP-sensitive K + ... Cited by 10 - Related articles - BL Direct - All 4 versions
FR Grati, L Turolla, P d'Ajello, A Ruggeri, M Miozzo, … - British Medical …, 2007 - jmg.bmj.com Background: The phenotypic variability in Beckwith–Wiedemann syndrome (BWS) reflects the
genetic heterogeneity of the mechanism which by default leads to the deregulation of genes
located at 11p15.5. Genotype–phenotype correlation studies have demonstrated an ... Cited by 6 - Related articles - BL Direct - All 6 versions
J Santiago, M Muszlak, C Samson, E Goulois, A … - Archives de pédiatrie, 2008 - Elsevier Le syndrome de Wiedemann-Beckwith (SWB) est un syndrome de croissance excessive
prédisposant, a priori, à la survenue de tumeurs embryonnaires dans les premières années
de vie. Si ce risque est globalement évalué entre 7,5 et 10 %, il varie avec les ... Related articles - All 2 versions
I Rica, C Luzuriaga, G Perezdenanclares, I … - Diabetic …, 2007 - interscience.wiley.com It is also possible that your web browser is not configured or not able to display style sheets.
In this case, although the visual presentation will be degraded, the site should continue to be
functional. We recommend using the latest version of Microsoft or Mozilla web browser to ... Cited by 7 - Related articles - BL Direct - All 4 versions
