The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation

The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation

Key Clinical Message: In infants, especially with novel previously undescribed mutations of the KATP channel causing neonatal diabetes, in vitro studies can be used to both predict the response to sulphonylurea treatment and support a second trial of glibenclamide at higher than standard doses if th...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	O'Connell, S, Proks, P, Kramer, H, Mattis, K, Sachse, G, Joyce, C, Houghton, J, Ellard, S, Hattersley, A, Ashcroft, F, O'Riordan, S
التنسيق:	Journal article
منشور في:	John Wiley and Sons Ltd 2015

مواد مشابهة

Molecular basis of Kir6.2 mutations causing neonatal diabetes and neonatal diabetes with neurological features
حسب: Proks, P, وآخرون
منشور في: (2005)

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.
حسب: Proks, P, وآخرون
منشور في: (2004)

Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.
حسب: Männikkö, R, وآخرون
منشور في: (2010)

Permanent neonatal diabetes caused by an in-frame deletion in the N-terminus of Kir6.2
حسب: Craig, T, وآخرون
منشور في: (2008)

Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.
حسب: Shimomura, K, وآخرون
منشور في: (2006)

Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.
حسب: Shimomura, K, وآخرون
منشور في: (2009)

Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.
حسب: Hattersley, A, وآخرون
منشور في: (2005)

A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.
حسب: Proks, P, وآخرون
منشور في: (2005)

A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated.
حسب: Männikkö, R, وآخرون
منشور في: (2011)

Effects of mitiglinide (S 21403) on Kir6.2/SUR1, Kir6.2/SUR2A and Kir6.2/SUR2B types of ATP-sensitive potassium channel.
حسب: Reimann, F, وآخرون
منشور في: (2001)

Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.
حسب: Girard, C, وآخرون
منشور في: (2006)

Phentolamine block of KATP channels is mediated by Kir6.2.
حسب: Proks, P, وآخرون
منشور في: (1997)

Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions.
حسب: Tammaro, P, وآخرون
منشور في: (2005)

An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1.
حسب: Craig, T, وآخرون
منشور في: (2009)

A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications.
حسب: Tammaro, P, وآخرون
منشور في: (2008)

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
حسب: Gloyn, A, وآخرون
منشور في: (2004)

Involvement of the n-terminus of Kir6.2 in coupling to the sulphonylurea receptor.
حسب: Reimann, F, وآخرون
منشور في: (1999)

The N-terminus of Kir6.2 is involved in coupling to SUR1
حسب: Reimann, F, وآخرون
منشور في: (1999)

Mutations within the P-loop of Kir6.2 modulate the intraburst kinetics of the ATP-sensitive potassium channel.
حسب: Proks, P, وآخرون
منشور في: (2001)

Functional effects of mutations at F35 in the NH2-terminus of Kir6.2 (KCNJ11), causing neonatal diabetes, and response to sulfonylurea therapy.
حسب: Proks, P, وآخرون
منشور في: (2006)

Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.
حسب: Tarasov, A, وآخرون
منشور في: (2007)

Glimepiride block of Kir6.2/SUR1 Kir6.2/SUR2A and Kir6.2/SUR2A and Kir6.2/SUR2B K-ATP channels.
حسب: Ashcroft, F, وآخرون
منشور في: (2001)

Involvement of the N-terminus of Kir6.2 in the inhibition of the KATP channel by ATP.
حسب: Proks, P, وآخرون
منشور في: (1999)

A Kir6.2 mutation causing neonatal diabetes impairs electrical activity and insulin secretion from INS-1 beta-cells.
حسب: Tarasov, A, وآخرون
منشور في: (2006)

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.
حسب: Pearson, E, وآخرون
منشور في: (2006)

A mouse model of neonatal diabetes caused by the K-ATP channel mutation Kir6.2-V59M
حسب: Girard, C, وآخرون
منشور في: (2008)

Focus on Kir6.2: a key component of the ATP-sensitive potassium channel.
حسب: Haider, S, وآخرون
منشور في: (2005)

Filter flexibility in a mammalian K channel: models and simulations of Kir6.2 mutants.
حسب: Capener, C, وآخرون
منشور في: (2003)

Structure-function studies of the fast gating kinetics of the cloned ATP-sensitive potassium channel, Kir6.2/SUR1
حسب: Proks, P, وآخرون
منشور في: (2001)

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.
حسب: Flanagan, SE, وآخرون
منشور في: (2006)

Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit.
حسب: Antcliff, J, وآخرون
منشور في: (2005)

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.
حسب: Vaxillaire, M, وآخرون
منشور في: (2004)

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.
حسب: Gloyn, A, وآخرون
منشور في: (2004)

Time-dependent activation of Kir6.2/SUR2A channels but not Kir6.2/SUR1 channels in the presence of ATP
حسب: Ashcroft, F, وآخرون
منشور في: (2001)

Direct photoaffinity labeling of Kir6.2 by [gamma-(32)P]ATP-[gamma]4-azidoanilide.
حسب: Tanabe, K, وآخرون
منشور في: (2000)

Screening for mutations in the Kir6.2 subunit of the beta-cell K-ATP channel
حسب: Sakura, H, وآخرون
منشور في: (1996)

Time-dependent activation of KIR6.2/SUR2A channels but not KIR6.2/SUR1 channels in the presence of MgATP
حسب: Song, D, وآخرون
منشور في: (2001)

Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetes.
حسب: Girard, C, وآخرون
منشور في: (2009)

Mapping the architecture of the ATP-binding site of Kir6.2
حسب: Dabrowski, M, وآخرون
منشور في: (2002)

Direct photoaffinity labeling of the Kir6.2 subunit of the ATP-sensitive K+ channel by 8-azido-ATP.
حسب: Tanabe, K, وآخرون
منشور في: (1999)