|
rs137852671
|
|
Diabetes
|
|
0.030 |
GeneticVariation
|
BEFREE |
Dominantly inherited mutations cause less severe disease, which may progress to glucose intolerance and diabetes in later life (e.g., SUR1-E1506K).
|
23903354 |
2013 |
|
rs137852671
|
|
Diabetes
|
|
0.030 |
GeneticVariation
|
BEFREE |
Our data corroborate the hypothesis that the dominant E1506K ABCC8 mutation, responsible for CHI, predisposes to the development of glucose intolerance and diabetes later in life.
|
20042013 |
2010 |
|
rs137852671
|
|
Diabetes
|
|
0.030 |
GeneticVariation
|
BEFREE |
Heterozygous E1506K substitution in the SUR1 gene causes congenital hyperinsulinism in infancy, loss of insulin secretory capacity in early adulthood, and diabetes in middle-age.
|
12559865 |
2003 |
|
rs757110
|
|
Diabetes
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our results provide evidence, at the single residue level, for a molecular mechanism that may underlie the association of the S1369A variant with type 2 diabetes.
|
26181369 |
2015 |
|
rs757110
|
|
Diabetes
|
|
0.020 |
GeneticVariation
|
BEFREE |
Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and response to interventions in the Diabetes Prevention Program.
|
17259403 |
2007 |
|
rs1272388614
|
|
Diabetes
|
|
0.010 |
GeneticVariation
|
BEFREE |
One individual homozygous for R1420H was identified; retrospective review of his medical records was consistent with HHI and a diagnosis of diabetes at age 3.5 years.
|
26246406 |
2015 |
|
rs1285524167
|
|
Diabetes
|
|
0.010 |
GeneticVariation
|
BEFREE |
All these changes are expected to contribute to the diabetes of beta-V59M mice.
|
19065048 |
2009 |
|
rs148529020
|
|
Diabetes
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we report a case of diabetes in a 7-mo old child with compound heterozygous mutations in ABCC8 (SUR1[A30V] and SUR1[G296R]).
|
22562119 |
2012 |
|
rs1799854
|
|
Diabetes
|
|
0.010 |
GeneticVariation
|
BEFREE |
The meta-analysis of East Asian populations also showed a strong significant association of the K allele with diabetes (OR=1.15, P=3 x 10(-9)), whereas the exon16-3t/c variant (rs1799854) in ABCC8 showed no significant association.
|
19498446 |
2009 |
|
rs28938469
|
|
Diabetes
|
|
0.010 |
GeneticVariation
|
BEFREE |
We explored the gene responsible for diabetes in two brothers, who were suspected to have diabetes </span>at 15 and 18 years-of-age, respectively, with whole exome sequencing, and identified a compound heterozygous ABCC8 gene mutation (p.Arg168Cys and p.Arg1421Cys).
|
31479591 |
2020 |
|
rs756823374
|
|
Diabetes
|
|
0.010 |
GeneticVariation
|
BEFREE |
We explored the gene responsible for diabetes in two brothers, who were suspected to have diabetes at 15 and 18 years-of-age, respectively, with whole exome sequencing, and identified a compound heterozygous ABCC8 gene mutation (p.Arg168Cys and p.Arg1421Cys).
|
31479591 |
2020 |