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Scholar Results 1 - 10 of about 68 citing Molven: Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of.... (0.07 sec) 

ATP-sensitive potassium channelopathies: focus on insulin secretion

- nih.gov
FM Ashcroft - Journal of Clinical Investigation, 2005 - Am Soc Clin Investig
ATP-sensitive potassium (K ATP ) channels, so named because they are inhibited
by intracellular ATP , play key physiological roles in many tissues. In
pancreatic β cells, these channels regulate glucose-dependent insulin ...
Cited by 142 - Related articles - BL Direct - All 14 versions

Foxa2 regulates multiple pathways of insulin secretion

- nih.gov
KA Lantz, MZ Vatamaniuk, JE Brestelli, JR … - Journal of Clinical Investigation, 2004 - Am Soc Clin Investig
The regulation of insulin secretion by pancreatic β cells is perturbed in
several diseases, including adult-onset (type 2) diabetes and persistent
hyperinsulinemic hypoglycemia of infancy (PHHI). The first mouse model for ...
Cited by 68 - Related articles - BL Direct - All 8 versions

Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations …


ER Pearson, SF Boj, AM Steele, T Barrett, K … - PLoS Medicine, 2007 - medicine.plosjournals.org
Macrosomia is associated with considerable neonatal and maternal morbidity.
Factors that predict macrosomia are poorly understood. The increased rate of
macrosomia in the offspring of pregnant women with diabetes and in ...
Cited by 58 - Related articles - Cached - BL Direct - All 15 versions

Fatty acid signaling in the β-cell and insulin secretion

- diabetesjournals.org
CJ Nolan, MSR Madiraju, V Delghingaro- … - Diabetes, 2006 - Am Diabetes Assoc
Fatty acids (FAs) and other lipid molecules are important for many cellular
functions, including vesicle exocytosis. For the pancreatic β-cell, while the
presence of some FAs is essential for glucose-stimulated insulin secretion, ...
Cited by 54 - Related articles - BL Direct - All 5 versions

Pancreatic islet adaptation to fasting is dependent on peroxisome proliferator-activated …


S Gremlich, C Nolan, R Roduit, R Burcelin, … - Endocrinology, 2005 - Endocrine Soc
The cellular response to fasting and starvation in tissues such as heart,
skeletal muscle, and liver requires peroxisome proliferator-activated receptor-
(PPAR )-dependent up-regulation of energy metabolism toward fatty acid ...
Cited by 45 - Related articles - All 5 versions

[PDF] Winged-helix transcription factors and pancreatic development


KA Lantz, KH Kaestner - Clinical Science, 2005 - cs.portlandpress.com
The forkhead gene family, named after the founding gene member in Drosophila, is
characterized by a unique DNA-binding domain. This so-called forkhead box
encodes a winged-helix DNA-binding motif, the name of which describes the ...
Cited by 34 - Related articles - View as HTML - All 9 versions

Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency


E Christensen, A Ribes, B Merinero, J … - Journal of inherited metabolic disease, 2004 - Springer
Summary: We have investigated the correlation between genotype and phenotype in
a large number of patients with glutaric aciduria type I (GA I). The de¢ciency
of glutaryl-CoA dehydrogenase has been con¢rmed in the Rigshospitalet's ...
Cited by 32 - Related articles - BL Direct - All 4 versions

Congenital hyperinsulinism


K Hussain - Seminars in Fetal and Neonatal Medicine, 2005 - Elsevier
Congenital hyperinsulinism is a cause of persistent hypoglycaemia in the
neonatal period. It is a heterogeneous disease with respect to clinical
presentation, molecular biology, genetic aetiology and response to medical ...
Cited by 28 - Related articles - All 10 versions

Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene


K Hussain, PT Clayton, S Krywawych, I … - The Journal of pediatrics, 2005 - Elsevier
Short-, medium-, and long-chain 3-hydroxyacyl-CoA dehydrogenase activity was
measured in fibroblasts as described previously. 6 The protein was normalized to
supernatant protein rather than total cellular protein. Proteins were ...
Cited by 27 - Related articles - All 5 versions

Mechanisms of disease: advances in diagnosis and treatment of hyperinsulinism in …


DD De León, CA Stanley - Nature Clinical Practice Endocrinology & Metabolism, 2007 - nature.com
Diva D De León is an Assistant Professor of Pediatrics at the University of
Pennsylvania, Philadelphia, PA, USA, and an Attending Physician in the Division
of Endocrinology, The Children's Hospital of Philadelphia. Her research ...
Cited by 28 - Related articles - BL Direct - All 4 versions


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