|
rs80356611
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.810 |
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 |
|
rs80356611
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.
|
20022885 |
2010 |
|
rs80356611
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.
|
17213273 |
2007 |
|
rs80356611
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.
|
17652641 |
2007 |
|
rs80356611
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.810 |
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 |
|
rs80356611
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.810 |
GeneticVariation
|
UNIPROT |
We investigated the functional effects this mutation and another at the same residue (R50P) that led to PNDM in association with developmental delay.
|
16731833 |
2006 |
|
rs80356611
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.810 |
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 |
|
rs80356611
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.810 |
GeneticVariation
|
UNIPROT |
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
|
15580558 |
2005 |
|
rs80356611
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.810 |
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 |
|
rs80356611
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.
|
15583126 |
2004 |
|
rs80356611
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.
|
15448107 |
2004 |
|
rs80356611
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
|
15115830 |
2004 |
|
rs80356611
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
|
15448106 |
2004 |