|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
Biomarker
|
disease |
BEFREE |
Molecular analysis of chromosome 6 anomalies and the KCNJ11 and ABCC8 genes encoding Kir6.2 and SUR1 provides a tool for distinguishing transient from permanent neonatal diabetes mellitus in the neonatal period.
|
18279778 |
2008 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the KCNJ11 and ABCC8 genes encoding the pancreatic beta-cell K(ATP) channel have recently been shown to be the most common cause of permanent neonatal diabetes mellitus (PNDM).
|
17213273 |
2007 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
Biomarker
|
disease |
BEFREE |
Activating mutations in genes encoding the Kir6.2 (KCNJ11) and SUR1 (ABCC8) subunits of the pancreatic ATP-sensitive K(+) channel are a common cause of permanent neonatal diabetes (PNDM).
|
19351728 |
2009 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in KCNJ11, ABCC8, or INS are the cause of permanent neonatal diabetes mellitus in about 50% of patients diagnosed with diabetes before 6 months of age and in a small fraction of those diagnosed between 6 and 12 months.
|
18662362 |
2008 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with PNDM due to a heterozygous activating mutation in the ABCC8 gene encoding the SUR1 regulatory subunit of the K(ATP) channel have recently been reported.
|
17668386 |
2007 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Some other forms of monogenic diabetes associated with impaired function of the beta-cell, such as MODY3 and PNDM linked to mutations in Kir6.2 and SUR1 genes, can be successfully managed by sulphonylurea agents.
|
17488343 |
2008 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although PNDM is a rare phenomenon (one case in about 200,000 live births), this discovery has had a large impact on clinical practice as most carriers of KCNJ11 and ABCC8 gene mutations have been switched from insulin to oral sulphonylureas with an improvement in glycemic control.
|
21054355 |
2011 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation.
|
22306677 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the KCNJ11 and ABCC8 genes that encode the pancreatic K(ATP) channel are the commonest cause of permanent neonatal diabetes mellitus (PNDM).
|
22859427 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Permanent neonatal diabetes mellitus (PNDM) in European population has an incidence of at least 1 in 260 000 live births and is most commonly due to mutations in KCNJ11 and ABCC8.
|
22060631 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the long-term follow-up results of two siblings with PNDM who were treated with insulin until ABCC8 gene mutation was identified, and were successfully transferred to oral SU therapy.
|
22672870 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations of the ABCC8 gene can lead to permanent neonatal diabetes mellitus (PNDM).
|
22768668 |
2012 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in KATP channel genes (KCNJ11, ABCC8) and the insulin gene (INS) are the most common causes of PNDM.
|
23050777 |
2013 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
ABCC8 mutations cause PNDM, TNDM or permanent diabetes diagnosed outside the neonatal period.
|
17919176 |
2007 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
Biomarker
|
disease |
BEFREE |
Many patients who have PNDM have been successfully treated with sulphonylureas, a common class of antidiabetic drugs that bind to SUR1 and indirectly inhibit Kir6.2, thereby promoting insulin secretion.
|
29844136 |
2018 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in KCNJ11, ABCC8, or INS are the cause of permanent neonatal diabetes mellitus in about 50%-60% of the patients.
|
21823539 |
2011 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report the successful transition from insulin to SU in two Iraqi siblings with PNDM due to ABCC8 mutation, one with iDEND.
|
27849623 |
2016 |
|
DIABETES MELLITUS, PERMANENT NEONATAL
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM).
|
17317760 |
2007 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Meta-analysis of all case-control data showed that the E23K allele was associated with type 2 diabetes (K allele OR 1.23 [1.12-1.36], P = 0.000015; KK genotype 1.65 [1.34-2.02], P = 0.000002); but the ABCC8 variants were not associated.
|
12540637 |
2003 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the polymorphisms of the SUR1 gene predicted the conversion from impaired glucose tolerance to type 2 diabetes and that the effect of these polymorphisms on diabetes risk was additive with the E23K polymorphism of the Kir6.2 gene.
|
15579791 |
2004 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
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 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Altered expression of Notch2 and ABCC8 genes may play a role in the pathogenesis of T2DM.
|
28794851 |
2017 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The C49620T ABCC8 polymorphism is associated with anthropometric risk factors for type 2 diabetes among ADPKD patients, with a protective effect of the TT genotype, but without influence on pancreatic β-cell secretory function or insulin sensitivity.
|
22466262 |
2012 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Polymorphisms in the sulfonylurea receptor gene (ABCC8, SUR1) are associated with non-insulin-dependent diabetes mellitus (NIDDM).
|
12437993 |
2003 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
It has been hypothesized that the p.E23K (KCNJ11) mutation in the 11p15.1 region may play an important role in the development of T2DM.In 2009, Hamming et al. found that the p.1369A (ABCC8) variant may be a causal factor in the disease; therefore, in this study we performed a meta-analysis to evaluate the association between these single nucleotide polymorphisms (SNPs), including our original data on the Siberian population (1384 T2DM and 414 controls).
|
25955821 |
2015 |