|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Our results suggest that the inactivating ABCC8 gene mutation is also important in the etiology of diabetes.
|
31479591 |
2020 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The possibility of a significant discordance in the correlation between genotype and phenotype needs to be taken into account when ABCC8 mutation dependent diabetes occurs within the same family.
|
30734462 |
2019 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
The results suggest that salivary CgA and MRP-8/14 could be related to the pathogenesis of periodontitis and diabetes.
|
31538150 |
2019 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The present study shows the heterogeneous nature of diabetes in a family with a gain-of-function mutation in the ABCC8 gene.
|
30068891 |
2018 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Patients with dominant ABCC8 gene mutations are prone to DM in adulthood, but Sirolimus therapy might increase the risk of developing diabetes at an early age, as this case illustrates.
|
28985184 |
2017 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
A total of 40 individuals with diabetes (1.8% of early onset sub-group and 0.6% of adult onset sub-group) were carriers of known pathogenic missense variants in the GCK, HNF1A, HNF4A, ABCC8, and INS genes.
|
29207974 |
2017 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Furthermore, the sulfonylurea receptor 1 (SUR1) S1369A diabetes risk variant increases MgATPase activity, but the molecular mechanisms remain to be determined.
|
26181369 |
2015 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We report a case of a 6-week-old infant with diabetes mellitus based on a genetic defect in the sulfonylurea receptor 1 (SUR1), an ATP-sensitive potassium (KATP) channel protein.
|
24827651 |
2014 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Activating mutations in the ABCC8 gene encoding the KATP channel subunit SUR1 cause β-cell dysfunction with non-autoimmune diabetes mellitus in neonates or infants.
|
24941889 |
2014 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Several single nucleotide polymorphisms (SNPs) of ABCC8 gene and their interaction are involved in pathogenicity of DM.
|
24768178 |
2014 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
We sequenced KCNJ11, ABCC8 and insulin (INS) genes in 33 unrelated Indian probands with onset of diabetes below one year of age.
|
22831748 |
2013 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Participants diagnosed with diabetes before 6 months of age were invited for genetic testing for mutations in the KCNJ11, ABCC8, and INS genes.
|
23050777 |
2013 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
STZ treatment also suppressed expression of a wide range of genes linked with key β-cell functions or diabetes development, such as G6pc2, Slc2a2 (Glut2), Slc30a8, Neurod1, Ucn3, Gad1, Isl1, Foxa2, Vdr, Pdx1, Fkbp1b and Abcc8, suggesting global β-cell defects in STZ-treated islets.
|
23828045 |
2013 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
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 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Activating ABCC8 mutations lead to decreased insulin secretion and to diabetes.
|
22326206 |
2012 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The KCNJ11 and ABCC8 genes were sequenced in 115 infants with permanent diabetes diagnosed between 6 and 12 months and in 405 patients presenting before 6 months.
|
21981029 |
2012 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
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 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Thus, MRP8/14 likely plays a role in exaggerated ISR in diabetes mellitus, and MRP8 inhibition may be useful in improving outcome after stent placement in diabetes mellitus.
|
22381691 |
2012 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Given the effectiveness of SU treatment in ABCC8-NDM patients, we further characterized late-onset ABCC8-associated diabetes.
|
22210575 |
2012 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Controversy exists on whether these dominant ABCC8 or KCNJ11 genes mutations predispose to diabetes mellitus in adulthood or not.
|
22308858 |
2011 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations.
|
21674179 |
2011 |
|
Diabetes Mellitus
|
0.200 |
Biomarker
|
group |
BEFREE |
Studies have suggested that the VDR, PPARG, HNF1A, and adenosine 5'-triphosphate-binding cassette ABCC8 (which encodes the sulfonylurea receptor) genes are associated with calcineurin inhibitor-induced diabetes.
|
20099993 |
2010 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Here, we report a family carrying the dominant heterozygous germ line E1506K mutation in ABCC8 associated with persistent hypoglycemia in the newborn period and diabetes in adulthood.
|
20042013 |
2010 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Multiple mutations in Kir6.x and SUR genes have implicated K(ATP) channels in various diseases ranging from diabetes and hyperinsulinism to cardiac arrhythmias and cardiovascular disease.
|
19787700 |
2009 |
|
Diabetes Mellitus
|
0.200 |
GeneticVariation
|
group |
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 |