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Scholar Results 1 - 10 of about 101 related to Yan: Congenital Hyperinsulinism–Associated ABCC8 Mutations That Cause Defective Trafficking.... (0.09 sec) 

Congenital Hyperinsulinism–Associated ABCC8 Mutations That Cause Defective Trafficking …

- diabetesjournals.org
FF Yan, YW Lin, C MacMullen, A Ganguly, CA … - Diabetes, 2007 - Am Diabetes Assoc
Congenital hyperinsulinism (CHI) is a disease characterized by persistent
insulin secretion despite severe hypoglycemia. Mutations in the pancreatic
ATP-sensitive K + (K ATP ) channel proteins sulfonylurea receptor 1 (SUR1) ...
Cited by 8 - Related articles - BL Direct - All 5 versions

Identification and Rescue


FF Yan, YW Lin, C MacMullen, A Ganguly, CA … - DIABETES, 2007 - Am Diabetes Assoc
C ongenital hyperinsulinism (CHI) of infancy is characterized by inappropriate
insulin secretion in the face of severe hypoglycemia in neonates and infants
(1–4). Clinical treatments involving the use of diazoxide or somatostatin ...
Related articles

Kir6. 2 Mutations Associated With Neonatal Diabetes Reduce Expression of ATP-Sensitive …

- shouxi.net
CW Lin, YW Lin, FF Yan, J Casey, M Kochhar, … - Diabetes, 2006 - Am Diabetes Assoc
Heterozygous missense mutations in the pore-forming subunit Kir6.2 of
ATP-sensitive K + channels (K ATP channels) have recently been shown to cause
permanent neonatal diabetes mellitus (PNDM). Functional studies ...
Cited by 12 - Related articles - BL Direct - All 5 versions

Molecular and immunohistochemical analyses of the focal form of congenital …


M Suchi, CM MacMullen, PS Thornton, NS … - Modern pathology, 2005 - nature.com
Congenital hyperinsulinism is a rare pancreatic endocrine cell disorder that has
been categorized histologically into diffuse and focal forms. In focal
hyperinsulinism, the pancreas contains a focus of endocrine cell ...
Cited by 12 - Related articles - BL Direct - All 5 versions

Congenital hyperinsulinism-associated ABCC8 mutations that cause defective trafficking of …

- diabetesjournals.org [PDF] 
FF Yan, YW Lin, C MacMullen, A Ganguly, CA … - Diabetes, 2007 - Am Diabetes Assoc
Page 1. 1 Congenital hyperinsulinism-associated ABCC8 mutations that cause defective
trafficking of ATP-sensitive potassium channels: identification and rescue ...
Cited by 1 - Related articles - All 2 versions

Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding …

- nih.gov
H de Wet, MG Rees, K Shimomura, J … - Proceedings of the National Academy of Sciences, 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 ...
Cited by 9 - Related articles - BL Direct - All 7 versions

Update of mutations in the genes encoding the pancreatic beta-cell K (ATP) channel …


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

Genotype-phenotype associations in patients with severe hyperinsulinism of infancy

- pedpath.org
RM Greer, J Shah, YW Jeske, D Brown, RM … - Pediatric and Developmental Pathology, 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 ...
Cited by 4 - Related articles - All 2 versions

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism …


SE Pinney, C MacMullen, S Becker, YW Lin, C … - The Journal of Clinical Investigation, 2008 - pubmedcentral.nih.gov
Congenital hyperinsulinism is a condition of dysregulated insulin secretion
often caused by inactivating mutations of the ATP-sensitive K + (K ATP ) channel
in the pancreatic β cell. Though most disease-causing mutations of the 2 ...
Cited by 12 - Related articles - All 6 versions

Prenatal diagnosis and postnatal management of diffuse congenital hyperinsulinism: a case …


WHPAG Laura, SP Thorntonb, MPJLJ … - Fetal Diagn Ther, 2006 - content.karger.com
Page 1. Fax +41 61 306 12 34 E-Mail karger@karger.ch www.karger.com Fetal Diagn
Ther 2006;21:515–518 DOI: 10.1159/000095664 Prenatal Diagnosis and Postnatal ...
Cited by 5 - Related articles - BL Direct - All 5 versions


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