|
rs193929337
|
|
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 |
|
rs193929337
|
|
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 |
|
rs193929337
|
|
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 |
|
rs193929337
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.
|
17652641 |
2007 |
|
rs193929337
|
|
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 |
|
rs193929337
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.
|
16731833 |
2006 |
|
rs193929337
|
|
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 |
|
rs193929337
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.810 |
GeneticVariation
|
UNIPROT |
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
|
15580558 |
2005 |
|
rs193929337
|
|
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 |
|
rs193929337
|
|
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 |
|
rs193929337
|
|
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 |
|
rs193929337
|
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.810 |
GeneticVariation
|
UNIPROT |
All mutations increased resting whole-cell K(ATP) currents by reducing channel inhibition by ATP, but, in the simulated heterozygous state, mutations causing PNDM alone (R201C) produced smaller K(ATP) currents and less change in ATP sensitivity than mutations associated with severe disease (Q52R and V59G).
|
15583126 |
2004 |
|
rs193929337
|
|
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 |