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Scholar Results 1 - 10 of about 101 related to Masia: A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent.... (0.12 sec) 

A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent …

- shouxi.net
R Masia, DD De Leon, C MacMullen, H … - Diabetes, 2007 - Am Diabetes Assoc
RESULTS—L225P-containing K ATP channels were significantly more active in the
intact cell than in wild-type channels. In excised membrane patches, L225P
increased channel sensitivity to stimulatory Mg nucleotides without ...
Cited by 12 - Related articles - BL Direct - All 6 versions

Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause …


AM Patch, SE Flanagan, C Boustred, AT … - Diabetes Obes Metab, 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 ...
Cited by 9 - Related articles - All 3 versions

Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes …

- oxfordjournals.org
P Proks, K Shimomura, TJ Craig, CAJ Girard, … - Human Molecular Genetics, 2007 - Oxford Univ Press
Activating mutations in the genes encoding the ATP-sensitive potassium (K ATP )
channel subunits Kir6.2 and SUR1 are a common cause of neonatal diabetes. Here,
we analyse the molecular mechanism of action of the heterozygous mutation ...
Cited by 12 - Related articles - BL Direct - All 4 versions

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous …

- nih.gov
S Ellard, SE Flanagan, CA Girard, AM Patch, … - The American Journal of Human Genetics, 2007 - Elsevier
Heterozygous activating mutations in the KCNJ11 gene encoding the pore-forming
Kir6.2 subunit of the pancreatic beta cell K ATP channel are the most common
cause of permanent neonatal diabetes (PNDM). Patients with PNDM due to a ...
Cited by 28 - Related articles - BL Direct - All 9 versions

Sulfonylurea Treatment in Young Children With Neonatal Diabetes

- Free from Publisher
E Codner, SE Flanagan, F Ugarte, H García, T … - Diabetes Care, 2007 - Am Diabetes Assoc
In case 1, a girl was transferred from insulin to glibenclamide at 17 months (7)
and had been on this treatment for 2 years. During this period, blood glucose
testing decreased from 5–6 to 2–3 tests/day. As blood glucose levels ...
Cited by 12 - Related articles - All 5 versions

Functional effects of mutations at F35 in the NH2-terminus of Kir6. 2 (KCNJ11), causing …

- shouxi.net
P Proks, C Girard, H Bævre, PR Njølstad, FM … - Diabetes, 2006 - Am Diabetes Assoc
Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming
subunit of the ATP-sensitive K + channel (K ATP channel), cause neonatal
diabetes. To date, all mutations increase whole-cell K ATP channel currents ...
Cited by 16 - Related articles - BL Direct - All 5 versions

Studies of the ATPase activity of the ABC protein SUR1


H de Wet, MV Mikhailov, C Fotinou, M Dreger, … - FEBS JOURNAL, 2007 - interscience.wiley.com
The ATP-sensitive potassium (K ATP ) channel couples glucose metabolism to
insulin secretion in pancreatic β-cells. It comprises regulatory sulfonylurea
receptor 1 and pore-forming Kir6.2 subunits. Binding and/or hydrolysis of ...
Cited by 9 - Related articles - BL Direct - All 4 versions

New ABCC8 mutations in relapsing neonatal diabetes and clinical features

- diabetesjournals.org
M Vaxillaire, A Dechaume, K Busiah, H Cavé, … - Diabetes, 2007 - Am Diabetes Assoc
Activating mutations in the ABCC8 gene that encodes the sulfonylurea receptor 1
(SUR1) regulatory subunit of the pancreatic islet ATP-sensitive K + channel (K
ATP channel) cause both permanent and transient neonatal diabetes. ...
Cited by 24 - Related articles - BL Direct - All 6 versions

Generating new candidate genes for neonatal diabetes: functional and genetic studies of …


GA Rutter - Development of the Pancreas and Neonatal Diabetes: …, 2007 - books.google.com
Shield JPH, Scharfmann R (eds): Development of the Pancreas and Neonatal
Diabetes. Endocr Dev. Basel, Karger, 2007, vol 12, pp 75-85 Generating New
Candidate Genes for Neonatal Diabetes: Functional and Genetic Studies of ...
Cited by 3 - Related articles - BL Direct - All 4 versions

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes …

- oxfordjournals.org
P Proks, AL Arnold, J Bruining, C Girard, SE … - Human molecular genetics, 2006 - Oxford Univ Press
Neonatal diabetes is a genetically heterogeneous disorder with nine different
genetic aetiologies reported to date. Heterozygous activating mutations in the
KCNJ11 gene encoding Kir6.2, the pore-forming subunit of the ATP-sensitive ...
Cited by 76 - Related articles - BL Direct - All 9 versions


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