|
Neonatal diabetes mellitus
|
0.700 |
Biomarker
|
disease |
BEFREE |
A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated.
|
21540348 |
2011 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel activating ABCC8 mutation underlying neonatal diabetes mellitus in an infant presenting with cerebral sinovenous thrombosis.
|
24468609 |
2014 |
|
Neonatal diabetes mellitus
|
0.700 |
Biomarker
|
disease |
BEFREE |
Gain-of-function (GOF) mutations in the pore-forming (Kir6.2) and regulatory (SUR1) subunits of K<sub>ATP</sub> channels have been identified as the most common cause of human neonatal diabetes mellitus.
|
27956473 |
2017 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Loss- and gain-of-function mutations in the genes encoding the Kir6.2 and SUR1 subunits of this channel cause hyperinsulinism of infancy and neonatal diabetes, respectively.
|
20049716 |
2009 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in the genes encoding the ATP-sensitive potassium (K(ATP)) channel subunits Kir6.2 and SUR1 are a common cause of neonatal diabetes.
|
17584766 |
2007 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Loss of function mutations in the KCNJ11 and ABCC8 genes that encode for Kir6.2 and SUR1 can cause over-secretion of insulin and result in hyperinsulinism of infancy, while gain of function mutations in KCNJ11 and ABCC8 have recently been described that result in the opposite phenotype of diabetes.Genetic testing is important for patients with hyperinsulinism or neonatal diabetes, as identification of a K(ATP) channel mutation confirms a diagnosis of their disorder.
|
18998097 |
2008 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We studied a male infant with compound heterozygous ABCC8 mutations (p.Arg826Trp/p.Ile93Thr) causing neonatal diabetes mellitus.He died of ketoacidosis.
|
24941889 |
2014 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here we report a successful experience in an ABCC8-mutated infant with permanent NDM.
|
22306677 |
2012 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing for patients identified through the Ukrainian Pediatric Diabetes Register identified KCNJ11 and ABCC8 mutations as the most common cause (52%) of neonatal diabetes.
|
26208381 |
2015 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Sulfonylurea therapy can improve glycemic control and ameliorate neurodevelopmental outcomes in patients suffering from neonatal diabetes mellitus (NDM) with KCNJ11 or ABCC8 mutations.
|
28791793 |
2018 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ABCC8 gene encoding the SUR1 subunits of the beta-cell K-ATP channel cause neonatal diabetes (ND) mellitus.
|
19021632 |
2009 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our aim is to determine molecular defects in K<sub>ATP</sub> channels caused by ABCC8 mutations in Asian Indian children with NDM by in vitro functional studies.
|
30861254 |
2019 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In contrast to KCNJ11, where only dominant heterozygous mutations have been identified, recessively acting ABCC8 mutations have recently been found in some patients with neonatal diabetes.
|
17942821 |
2008 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Compound heterozygous mutations in the SUR1 (ABCC 8) subunit of pancreatic K(ATP) channels cause neonatal diabetes by perturbing the coupling between Kir6.2 and SUR1 subunits.
|
22562119 |
2012 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
New ABCC8 mutations in relapsing neonatal diabetes and clinical features.
|
17389331 |
2007 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
K(ATP) channel (Kir6.2 or SUR1) mutation, chromosome 6 abnormalities, insulin, or glucokinase gene mutations can lead to isolated NDM.
|
22308870 |
2011 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
|
20922570 |
2010 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Given the effectiveness of SU treatment in ABCC8-NDM patients, we further characterized late-onset ABCC8-associated diabetes.
|
22210575 |
2012 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Expression of the V59M Kir6.2 mutation in pancreatic beta cells alone is thus sufficient to recapitulate the neonatal diabetes observed in humans. beta-V59M islets also displayed a reduced percentage of beta cells, abnormal morphology, lower insulin content, and decreased expression of Kir6.2, SUR1, and insulin mRNA.
|
19065048 |
2009 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes.
|
21617188 |
2011 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
WES identified a novel de novo ABCC8 mutation in a NDM patient.
|
21049026 |
2010 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A mutation R1183W was found in the ABCC8 gene encoding SUR1, which was the cause of neonatal diabetes in this case.
|
20092027 |
2009 |
|
Neonatal diabetes mellitus
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Neonatal diabetes mellitus
|
0.700 |
Biomarker
|
disease |
MGD |
Sur1 knockout mice. A model for K(ATP) channel-independent regulation of insulin secretion.
|
10734066 |
2000 |
|
Neonatal diabetes mellitus
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|