|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.800 |
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 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.
|
20022885 |
2010 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.
|
17652641 |
2007 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.800 |
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 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.800 |
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 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.800 |
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 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.
|
16731833 |
2006 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.800 |
GeneticVariation
|
UNIPROT |
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
|
15580558 |
2005 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
|
15448106 |
2004 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
|
15115830 |
2004 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.
|
15583126 |
2004 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.
|
15448107 |
2004 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.800 |
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 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Neonatal insulin-dependent diabetes mellitus
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Developmental delay (disorder)
|
|
0.030 |
GeneticVariation
|
BEFREE |
In contrast, developmental delay in addition to diabetes was seen in four of five probands with the V59M mutation and two of four with the R201C mutation.
|
16609879 |
2006 |
|
Developmental delay (disorder)
|
|
0.030 |
GeneticVariation
|
BEFREE |
Four of the five patients with mutations had neurological features: the patient with the C166F mutation had marked developmental delay, severe generalised epilepsy, hypotonia and muscle weakness; mild developmental delay was present in the patient with the V59M mutation; one patient with the R201H mutation had acute and chronic neurological consequences of cerebral oedema and another had diabetic neuropathy from chronic hyperglycaemia.
|
16670688 |
2006 |
|
Global developmental delay
|
|
0.030 |
GeneticVariation
|
BEFREE |
We report the response to sulfonylurea treatment in a boy with neonatal diabetes and marked developmental delay resulting from the KCNJ11 mutation V59M.
|
17047922 |
2006 |
|
Global developmental delay
|
|
0.030 |
GeneticVariation
|
BEFREE |
In contrast, developmental delay in addition to diabetes was seen in four of five probands with the V59M mutation and two of four with the R201C mutation.
|
16609879 |
2006 |
|
Developmental delay (disorder)
|
|
0.030 |
GeneticVariation
|
BEFREE |
We report the response to sulfonylurea treatment in a boy with neonatal diabetes and marked developmental delay resulting from the KCNJ11 mutation V59M.
|
17047922 |
2006 |
|
Global developmental delay
|
|
0.030 |
GeneticVariation
|
BEFREE |
Four of the five patients with mutations had neurological features: the patient with the C166F mutation had marked developmental delay, severe generalised epilepsy, hypotonia and muscle weakness; mild developmental delay was present in the patient with the V59M mutation; one patient with the R201H mutation had acute and chronic neurological consequences of cerebral oedema and another had diabetic neuropathy from chronic hyperglycaemia.
|
16670688 |
2006 |
|
Diabetes Mellitus
|
|
0.020 |
GeneticVariation
|
BEFREE |
Nineteen children carrying KCNJ11 mutations associated with isolated diabetes (R201H; n = 8), diabetes with neurodevelopmental impairment (V59M or V59A [V59M/A]; n = 8), or diabetes not consistently associated with neurodevelopmental disability (Y330C, E322K, or R201C; n = 3) were studied using the age-standardized Beery-Buktenica Developmental Test of Visual-Motor Integration (VMI).
|
22855734 |
2012 |
|
Diabetes
|
|
0.020 |
GeneticVariation
|
BEFREE |
Nineteen children carrying KCNJ11 mutations associated with isolated diabetes (R201H; n = 8), diabetes with neurodevelopmental impairment (V59M or V59A [V59M/A]; n = 8), or diabetes not consistently associated with neurodevelopmental disability (Y330C, E322K, or R201C; n = 3) were studied using the age-standardized Beery-Buktenica Developmental Test of Visual-Motor Integration (VMI).
|
22855734 |
2012 |
|
Neonatal diabetes mellitus
|
|
0.020 |
GeneticVariation
|
BEFREE |
We identified KCNJ11 mutations in four of 10 probands with permanent neonatal diabetes and one affected parent; this included the novel C166F mutation and the previously described V59M and R201H.
|
16670688 |
2006 |