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Scholar Results 1 - 10 of about 101 related to Proks: Functional effects of mutations at F35 in the NH2-terminus of Kir6. 2 (KCNJ11), causing.... (0.12 sec) 

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

Mutations at the same residue (R50) of Kir6. 2 (KCNJ11) that cause neonatal diabetes produce …

- diabetesjournals.org
K Shimomura, CAJ Girard, P Proks, J Nazim, JD … - 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), are a common cause of
neonatal diabetes. We identified a novel KCNJ11 mutation, R50Q, that causes ...
Cited by 21 - Related articles - BL Direct - All 6 versions

Functional effects of naturally occurring KCNJ11 mutations causing neonatal diabetes on …

- nih.gov
P Tammaro, P Proks, FM Ashcroft - The Journal of Physiology, 2006 - Physiological Soc
ATP-sensitive K + (K ATP ) channels are hetero-octamers of inwardly rectifying K
+ channel (Kir6.2) and sulphonylurea receptor subunits (SUR1 in pancreatic
β-cells, SUR2A in heart). Heterozygous gain-of-function mutations in ...
Cited by 15 - Related articles - BL Direct - All 9 versions

Kir6. 2 mutations causing neonatal diabetes provide new insights into Kir6. 2–SUR1 …


P Tammaro, C Girard, J Molnes, PR Njølstad, … - The EMBO Journal, 2005 - pubmedcentral.nih.gov
ATP-sensitive K (K ATP ) channels, comprised of pore-forming Kir6.2 and
regulatory SUR1 subunits, play a critical role in regulating insulin secretion.
Binding of ATP to Kir6.2 inhibits, whereas interaction of MgATP with SUR1 ...
Cited by 35 - Related articles - All 7 versions

Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation …

- oxfordjournals.org
P Proks, C Girard, FM Ashcroft - Human Molecular Genetics, 2005 - Oxford Univ Press
Recent studies have shown that heterozygous mutations in KCNJ11, which encodes
Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K ATP )
channel, cause permanent neonatal diabetes either alone (R201C, R201H) or ...
Cited by 33 - Related articles - BL Direct - All 6 versions

Functional analysis of six Kir6. 2 (KCNJ11) mutations causing neonatal diabetes


CAJ Girard, K Shimomura, P Proks, N Absalom … - Pflügers Archiv European Journal of Physiology, 2006 - Springer
Abstract ATP-sensitive potassium (K ATP ) channels, com- posed of pore-forming
Kir6.2 and regulatory sulphonylurea receptor (SUR) subunits, play an essential
role in insulin secretion from pancreatic beta cells. Binding of ATP to ...
Cited by 20 - Related articles - BL Direct - All 4 versions

Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients …


G Tonini, C Bizzarri, R Bonfanti, M Vanelli, F … - Diabetologia, 2006 - Springer
To the Editor, Activating missense mutations in the gene encoding potassium
inwardly rectifying channel, subfamily J, mem- ber 11 (KCNJ11) represent the
most common cause (40 to 64%, depending on populations) of permanent ...
Cited by 16 - Related articles - BL Direct - All 3 versions

Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of …

- endojournals.org
J Stanik, D Gasperikova, M Paskova, L Barak, … - Journal of Clinical Endocrinology & Metabolism, 2007 - Endocrine Soc
Context: Mutations in the KCNJ11 and ABCC8 genes encoding the pancreatic ß-cell
K ATP channel have recently been shown to be the most common cause of permanent
neonatal diabetes mellitus (PNDM). Information regarding the frequency of ...
Cited by 30 - Related articles - BL Direct - All 4 versions

A gating mutation at the internal mouth of the Kir6. 2 pore is associated with DEND …


P Proks, C Girard, S Haider, AL Gloyn, AT … - EMBO reports, 2005 - pubmedcentral.nih.gov
Inwardly rectifying potassium (Kir) channels control cell membrane K fluxes and
electrical signalling in diverse cell types. Heterozygous mutations in the human
Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensitive (K ATP ...
Cited by 59 - Related articles - BL Direct - All 4 versions

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


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