|
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 |
|
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 |
|
rs984164636
|
|
|
0.010 |
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 |
|
rs80356625
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a novel presentation of Mauriac syndrome in a 9-year-old girl who was diagnosed with neonatal diabetes at 3 months of age due to the p.R201C mutation in KCNJ11.
|
27428845 |
2016 |
|
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 |
|
rs80356672
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Permanent neonatal diabetes in siblings with novel C109Y INS mutation transmitted by an unaffected parent with somatic mosaicism.
|
24279684 |
2014 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs193929355
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We assessed the functional effects of two Kir6.2 mutations associated with ND: K170T and E322K.
|
17919178 |
2007 |
|
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 |
|
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 |