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Scholar Results 1 - 10 of about 101 related to Lin: Kir6. 2 Mutations Associated With Neonatal Diabetes Reduce Expression of ATP-Sensitive.... (0.13 sec) 

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


CW Lin, YW Lin, FF Yan, J Casey, M Kochhar, EB Pratt, … - 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 demonstrated that PNDM mutations reduce K ATP channel ...
Cited by 12 - Related articles - BL Direct - All 5 versions

Prenatal diagnosis and postnatal management of diffuse congenital …


WHPAG Laura, SP Thorntonb, MPJLJ Howella, … - Fetal Diagn …, 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
Management of Diffuse Congenital Hyperinsulinism: A Case Report ...
Cited by 5 - Related articles - BL Direct - All 5 versions

Membrane phosphoinositides control insulin secretion through their effects on ATP …


CW Lin, F Yan, S Shimamura, S Barg, SL Shyng - Diabetes, 2005 - Am Diabetes Assoc
ATP-sensitive K + channels (K ATP channels) of pancreatic β-cells play key roles in
glucose-stimulated insulin secretion by linking metabolic signals to cell excitability. Membrane
phosphoinositides, in particular phosphatidylinositol 4,5-bisphosphates (PIP 2 ), stimulate ...
Cited by 16 - Related articles - BL Direct - All 6 versions

Assessment of insulin sensitivity in adults with permanent neonatal diabetes …


J Skupien, MT Malecki, W Mlynarski, T … - The Review of …, 2006 - pubmedcentral.nih.gov
Activating mutations in the KCNJ11 gene encoding the Kir6.2 subunit of ATP-sensitive potassium
channel have been described in patients with permanent neonatal diabetes mellitus
(PNDM). The main pathophysiological feature of PNDM associated with Kir6.2 mutations ...
Cited by 7 - Related articles - All 3 versions

[PDF] Implications in Disease Mechanism and Sulfonylurea Therapy


CW Lin, YW Lin, FF Yan, J Casey, M Kochhar, EB Pratt, … - DIABETES, 2006 - Am Diabetes Assoc
P ancreatic ATP-sensitive K channels (K ATP chan- nels), each consisting of four pore-forming
Kir6.2 subunits and four regulatory sulfonylurea recep- tor one (SUR1) subunits, link -cell metabolism
to insulin secretion (1–3). The activity of K ATP channels is
Related articles

Molecular and immunohistochemical analyses of the focal form of congenital …


M Suchi, CM MacMullen, PS Thornton, NS Adzick, A … - 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 adenomatous hyperplasia, and the patients have been reported to ...
Cited by 12 - Related articles - BL Direct - All 5 versions

Sulfonylureas correct trafficking defects of disease-causing ATP-sensitive …

- jbc.org
FF Yan, J Casey, SL Shyng - Journal of Biological Chemistry, 2006 - ASBMB
ATP-sensitive potassium (K ATP ) channels mediate glucose-induced insulin secretion by coupling
metabolic signals to -cell membrane potential and the secretory machinery. Reduced K ATP
channel expression caused by mutations in the channel proteins: sulfonylurea receptor 1 ( ...
Cited by 13 - Related articles - All 6 versions

Congenital Hyperinsulinism–Associated ABCC8 Mutations That Cause Defective …

- diabetesjournals.org
FF Yan, YW Lin, C MacMullen, A Ganguly, CA Stanley, … - 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) and Kir6.2, encoded by ABCC8 and KCNJ11, ...
Cited by 9 - Related articles - BL Direct - All 5 versions

Low temperature completely rescues the function of two misfolded KATP channel …


K Yang, K Fang, L Fromondi, KW Chan - FEBS letters, 2005 - Elsevier
The pancreatic ATP-sensitive potassium channels comprise two subunits: SUR1 and Kir6.2.
Two SUR1 mutations, A116P and V187D, reduce channel activity causing persistent hyperinsulinemic
hypoglycemia of infancy. We investigated whether these mutations cause temperature ...
Cited by 10 - Related articles - All 4 versions

[PDF] Mutation spectra of ABCC8 gene in Spanish patients with hyperinsulinism of …


A Fernández-Marmiesse, A Salas, A Vega, JR … - Human …, 2006 - hiperinsulinismo.org
1Unidad de Medicina Molecular,Fundación Pública Galega de Medicina Xenómica,
SERGAS, Hospital Clínico Universitario de Santiago, Galicia, Spain; 2Unidad de Genética, Instituto
de Medicina Legal, Facultae de Medicina, Universidad de Santiago de Compostela, ...
Cited by 14 - Related articles - View as HTML - BL Direct - All 3 versions


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