Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

BACKGROUND: Patients with permanent neonatal diabetes usually present within the first three months of life and require insulin treatment. In most, the cause is unknown. Because ATP-sensitive potassium (K(ATP)) channels mediate glucose-stimulated insulin secretion from the pancreatic beta cells, we...

Deskribapen osoa

Xehetasun bibliografikoak
Egile Nagusiak:	Gloyn, A, Pearson, E, Antcliff, J, Proks, P, Bruining, G, Slingerland, A, Howard, N, Srinivasan, S, Silva, J, Molnes, J, Edghill, E, Frayling, T, Temple, I, Mackay, D, Shield, J, Sumnik, Z, van Rhijn, A, Wales, J, Clark, P, Gorman, S, Aisenberg, J, Ellard, S, Njølstad, P, Ashcroft, F, Hattersley, A
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	2004

Antzeko izenburuak

Molecular basis of Kir6.2 mutations causing neonatal diabetes and neonatal diabetes with neurological features
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Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.
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Focus on Kir6.2: a key component of the ATP-sensitive potassium channel.
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Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.
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Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit.
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A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.
nork: Proks, P, et al.
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Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.
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Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.
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Effects of mitiglinide (S 21403) on Kir6.2/SUR1, Kir6.2/SUR2A and Kir6.2/SUR2B types of ATP-sensitive potassium channel.
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Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.
nork: Edghill, E, et al.
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Phentolamine block of KATP channels is mediated by Kir6.2.
nork: Proks, P, et al.
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Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.
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Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
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Permanent neonatal diabetes caused by an in-frame deletion in the N-terminus of Kir6.2
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The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation
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Quantitative traits associated with the Type 2 diabetes susceptibility allele in Kir6.2.
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Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes, and response to sulfonylurea therapy.
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Relapsing diabetes can result from moderately activating mutations in KCNJ11.
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Erratum: Mutations in ATP-sensitive K+ cannel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (Diabetes (2007) 56 (1930-1937))
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Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (vol 56, pg 1930, 2007)
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Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
nork: Flanagan, SE, et al.
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Involvement of the n-terminus of Kir6.2 in coupling to the sulphonylurea receptor.
nork: Reimann, F, et al.
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The N-terminus of Kir6.2 is involved in coupling to SUR1
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Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.
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A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated.
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Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.
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The ligand-sensitive gate of a potassium channel lies close to the selectivity filter
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The ligand-sensitive gate of a potassium channel lies close to the selectivity filter.
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The ligand-sensitive gate of a potassium channel lies close to the selectivity filter
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Involvement of the N-terminus of Kir6.2 in the inhibition of the KATP channel by ATP.
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Structure-function studies of the fast gating kinetics of the cloned ATP-sensitive potassium channel, Kir6.2/SUR1
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Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.
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Filter flexibility in a mammalian K channel: models and simulations of Kir6.2 mutants.
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Mutations within the P-loop of Kir6.2 modulate the intraburst kinetics of the ATP-sensitive potassium channel.
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Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.
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A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
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A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications.
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An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1.
nork: Craig, T, et al.
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Crystal structure of the potassium channel KirBac1.1 in the closed state.
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