|
rs193922401
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here we investigate the molecular mechanism by which two heterozygous mutations in the second nucleotide-binding domain (NBD2) of SUR1 (R1380L and R1380C) separately cause neonatal diabetes.
|
18025464 |
2007 |
|
rs80356611
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We identified a novel KCNJ11 mutation, R50Q, that causes permanent neonatal diabetes (PNDM) without neurological problems.
|
16731833 |
2006 |
|
rs80356624
|
|
|
0.030 |
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 |
|
rs80356624
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celiac disease: impact of low compliance to the gluten free diet.
|
19345438 |
2009 |
|
rs80356624
|
|
|
0.030 |
GeneticVariation |
BEFREE |
This is consistent with the ability of the R201H mutation to cause neonatal diabetes in patients.
|
17065345 |
2006 |
|
rs1285524167
|
|
|
0.020 |
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 |
|
rs1285524167
|
|
|
0.020 |
GeneticVariation |
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 |
|
rs193929337
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Some mutations in this gene, including p.Q52R, are associated with the developmental delay, epilepsy, neonatal diabetes (DEND) syndrome.
|
24150202 |
2014 |
|
rs193929337
|
|
|
0.020 |
GeneticVariation |
BEFREE |
First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment.
|
28083968 |
2017 |
|
rs587783673
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Chromosomal microarray at 11 weeks of age showed XXY and a panel-based, molecular test for neonatal diabetes revealed a pathogenic heterozygous variant c.685G>A (p.Glu229Lys) in KCNJ11.
|
28766502 |
2018 |
|
rs587783673
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Two cases of transient NDM in extremely preterm, 24 weeks' gestational age (GA) triplets, due to a missense mutation c.685G>A in the KCNJ11 gene are presented.
|
28350539 |
2017 |
|
rs80356616
|
|
|
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 |
|
rs80356616
|
|
|
0.020 |
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 |
|
rs137852673
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we investigate the molecular mechanism by which two heterozygous mutations in the second nucleotide-binding domain (NBD2) of SUR1 (R1380L and R1380C) separately cause neonatal diabetes.
|
18025464 |
2007 |
|
rs193922405
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two novel mutations (E1506D, E1506G) in the nucleotide-binding domain 2 (NBD2) of the ATP-sensitive K(+) channel (K(ATP) channel) sulfonylurea receptor 1 (SUR1) subunit were detected heterozygously in patients with neonatal diabetes.
|
21617188 |
2011 |
|
rs193929355
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We assessed the functional effects of two Kir6.2 mutations associated with ND: K170T and E322K.
|
17919178 |
2007 |
|
rs193929373
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To investigate the prevalence and clinical characteristics of heterozygotes of the glucokinase gene mutations G264S and IVS8+2 in the extended pedigree of two patients with permanent neonatal diabetes as a result of glucokinase deficiency (IVS8+2 homozygosity and IVS8+2/G264S compound heterozygosity).
|
16026363 |
2005 |
|
rs193929375
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We describe a novel homozygous missense glucokinase mutation (R397L) resulting in insulin-treated neonatal diabetes in an infant from a consanguineous Asian family.
|
15644838 |
2005 |
|
rs534808921
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A heterozygous mutation, c.125T>G (p. Val42Gly), was identified in a neonatal diabetes mellitus patient's INS gene.
|
29890547 |
2020 |
|
rs59852838
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overexpression of SUR1-Y356C in INS1(832/13) cells impaired glucose-induced cell depolarization and increased in intracellular free Ca(2+) concentration, albeit more weakly than neonatal diabetes-associated SUR1 mutants.
|
18346985 |
2008 |
|
rs758604661
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs779736828
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs797045209
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A mutation R1183W was found in the ABCC8 gene encoding SUR1, which was the cause of neonatal diabetes in this case.
|
20092027 |
2009 |
|
rs80356615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.
|
18073297 |
2008 |
|
rs80356618
|
|
|
0.010 |
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 |