×
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
DIABETES MELLITUS, PERMANENT NEONATAL
1.000
GeneticVariation
UNIPROT
Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel.
28842488 2017
×
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
DIABETES MELLITUS, PERMANENT NEONATAL
1.000
GeneticVariation
UNIPROT
Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.
20022885 2010
×
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
DIABETES MELLITUS, PERMANENT NEONATAL
1.000
GeneticVariation
UNIPROT
A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit.
17855752 2007
×
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
DIABETES MELLITUS, PERMANENT NEONATAL
1.000
GeneticVariation
UNIPROT
In insulin-treated patients who matched the clinical criteria for PNDM , the KCNJ11 or ABCC8 genes were sequenced, and mutation carriers were invited for replacement of insulin with SU.
17213273 2007
×
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
DIABETES MELLITUS, PERMANENT NEONATAL
1.000
GeneticVariation
UNIPROT
A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.
17652641 2007
×
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
DIABETES MELLITUS, PERMANENT NEONATAL
1.000
GeneticVariation
UNIPROT
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.
16609879 2006
×
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
DIABETES MELLITUS, PERMANENT NEONATAL
1.000
GeneticVariation
UNIPROT
We identified a novel KCNJ11 mutation, R50Q, that causes permanent neonatal diabetes (PNDM ) without neurological problems.
16731833 2006
×
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
DIABETES MELLITUS, PERMANENT NEONATAL
1.000
GeneticVariation
UNIPROT
We conclude that KCNJ11 mutations are a common cause of PNDM either in isolation or associated with developmental delay.
15580558 2005
×
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
DIABETES MELLITUS, PERMANENT NEONATAL
1.000
GeneticVariation
UNIPROT
Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.
15448107 2004
×
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
DIABETES MELLITUS, PERMANENT NEONATAL
1.000
GeneticVariation
UNIPROT
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.
15292329 2004
×
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
DIABETES MELLITUS, PERMANENT NEONATAL
1.000
GeneticVariation
UNIPROT
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
15448106 2004
×
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
DIABETES MELLITUS, PERMANENT NEONATAL
1.000
GeneticVariation
UNIPROT
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
15115830 2004
×
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
DIABETES MELLITUS, PERMANENT NEONATAL
1.000
GeneticVariation
UNIPROT
Heterozygous mutations in the human Kir6.2 gene (KCNJ11 ), the pore-forming subunit of the ATP-sensitive (K(ATP)) channel, cause permanent neonatal diabetes mellitus (PNDM ).
15583126 2004