(Q24302959)

English

The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

22 June 2017

The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy (English)

1 reference

Europe PubMed Central

PubMed publication ID

22 June 2017

Potassium inwardly rectifying channel subfamily J member 11

1 reference

GOA release 2020-03-11

nervous system process

1 reference

GOA release 2020-03-11

Fabrizio Barbetti

object named as

Fabrizio Barbetti

6

0 references

author name string

Joseph C Koster

1

1 reference

Europe PubMed Central

PubMed publication ID

22 June 2017

Francesco Cadario

2

1 reference

Europe PubMed Central

PubMed publication ID

22 June 2017

Cinzia Peruzzi

3

1 reference

Europe PubMed Central

PubMed publication ID

22 June 2017

Carlo Colombo

4

1 reference

Europe PubMed Central

PubMed publication ID

22 June 2017

Colin G Nichols

5

1 reference

Europe PubMed Central

PubMed publication ID

22 June 2017

language of work or name

0 references

publication date

11 December 2007

1 reference

Europe PubMed Central

PubMed publication ID

22 June 2017

The Journal of Clinical Endocrinology and Metabolism

1 reference

Europe PubMed Central

PubMed publication ID

22 June 2017

93

1 reference

Europe PubMed Central

PubMed publication ID

22 June 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

22 June 2017

1054-1061

1 reference

Europe PubMed Central

PubMed publication ID

22 June 2017

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

19 March 2017

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

19 March 2017

Alternative sulfonylurea receptor expression defines metabolic sensitivity of K-ATP channels in dopaminergic midbrain neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

19 March 2017

Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

19 March 2017

A family of sulfonylurea receptors determines the pharmacological properties of ATP-sensitive K+ channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

19 March 2017

Assessment of insulin sensitivity in adults with permanent neonatal diabetes mellitus due to mutations in the KCNJ11 gene encoding Kir6.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

27 September 2017

Hybrid assemblies of ATP-sensitive K+ channels determine their muscle-type-dependent biophysical and pharmacological properties

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

27 September 2017

ATP and sulfonylurea sensitivity of mutant ATP-sensitive K+ channels in neonatal diabetes: implications for pharmacogenomic therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

27 September 2017

Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

27 September 2017

Functional analysis of a structural model of the ATP-binding site of the KATP channel Kir6.2 subunit.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

27 September 2017

Disruption of Sur2-containing K(ATP) channels enhances insulin-stimulated glucose uptake in skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

27 September 2017

Targeted Overactivity of β Cell KATP Channels Induces Profound Neonatal Diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

27 September 2017

Octameric stoichiometry of the KATP channel complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

27 September 2017

Adenosine diphosphate as an intracellular regulator of insulin secretion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

27 September 2017

Pharmacokinetics of gliclazide in healthy and diabetic subjects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

27 September 2017

ATP-sensitive potassium channels participate in glucose uptake in skeletal muscle and adipose tissue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

30 May 2018

Tissue specificity of sulfonylureas: studies on cloned cardiac and beta-cell K(ATP) channels.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

30 May 2018

The interaction of nucleotides with the tolbutamide block of cloned ATP-sensitive K+ channel currents expressed in Xenopus oocytes: a reinterpretation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

30 May 2018

Sulfonylureas stimulate glucose uptake through GLUT4 transporter translocation in rat skeletal muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

30 May 2018

A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

29 November 2018

An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

29 November 2018

Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation i

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

29 November 2018

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

29 November 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

29 November 2018

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

29 November 2018

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

29 November 2018

Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

29 November 2018

Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

29 November 2018

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

29 November 2018

Differential sensitivity of beta-cell and extrapancreatic K(ATP) channels to gliclazide.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

29 November 2018

Efflux transport of tolbutamide across the blood-brain barrier.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

29 November 2018

Localization of high affinity [3H]glibenclamide binding sites within the substantia nigra zona reticulata of the rat brain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2266958

29 November 2018

Association and stoichiometry of K(ATP) channel subunits

1 reference

https://pubmed.ncbi.nlm.nih.gov/18073297

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Subunit stoichiometry of the pancreatic β-cell ATP-sensitive K+ channel

1 reference

https://pubmed.ncbi.nlm.nih.gov/18073297

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/18073297

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct Photoaffinity Labeling of the Kir6.2 Subunit of the ATP-sensitive K+Channel by 8-Azido-ATP

1 reference

https://pubmed.ncbi.nlm.nih.gov/18073297

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sulphonylurea stimulates glucose uptake in rats through an ATP-sensitive K+ channel dependent mechanism

1 reference

https://pubmed.ncbi.nlm.nih.gov/18073297

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transfer to sulphonylurea therapy in adult subjects with permanent neonatal diabetes due to KCNJ11-activating [corrected] mutations: evidence for improvement in insulin sensitivity

1 reference

https://pubmed.ncbi.nlm.nih.gov/18073297

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1210/JC.2007-1826

1 reference

Europe PubMed Central

PubMed publication ID

22 June 2017

PMC publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

22 June 2017

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