|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Usher type 1C maps to the region containing the genes ABCC8 and KCNJ11 (encoding components of ATP-sensitive K + (KATP) channels), which may be mutated in patients with hyperinsulinism.
|
10973248 |
2000 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.
|
15562009 |
2005 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We describe the interesting case of an infant with PNDM, in whom a compound heterozygous activating/ inactivating mutation was found with clinically unaffected parents, each carrying a heterozygous mutation in ABCC8, one predicting gain of function (neonatal diabetes) and the other a loss of function (hyperinsulinemia).
|
22796691 |
2012 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hyperinsulinism-Causing Mutations Cause Multiple Molecular Defects in SUR1 NBD1.
|
28346775 |
2017 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SUR1 or Kir6.2 mutations were found in six of seven focal adenomatous hyperplasia and three of five diffuse hyperinsulinism.
|
12210338 |
2002 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The diminished glucose responsiveness suggests that SUR1 mutations and lack of KATP channel activity may contribute to the late development of diabetes in patients with hyperinsulinism independently of subtotal pancreatectomy.
|
11272143 |
2001 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These results indicate that hyperinsulinism in this family is caused by a SUR1 mutation that is expressed dominantly rather than recessively.
|
12941782 |
2003 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our findings highlight that homozygous loss-of-function mutations of ABCC8 do not necessarily translate into early-onset severe hyperinsulinemia.
|
25720052 |
2015 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The four known genetic causes for inborn hyperinsulinism (mutations in the genes ABCC8, KCNJ11, GLUD1, and GCK) were excluded.
|
12400064 |
2002 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A combined immunohistochemistry and fluorescent in situ hybridization study on beta-cell interphase nuclei with probes covering two genes located in this region (ABCC8 and CDKN1C genes) was performed in four cases of focal forms of hyperinsulinism.
|
18796520 |
2008 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We selected 15 hyperinsulinism of infancy patients and systematically sequenced the promoter and all coding exons and intron/exon boundaries of ABCC8 and KCNJ11.
|
15579781 |
2004 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
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 |
|
Hyperinsulinism
|
0.100 |
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 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Most cases of hyperinsulinism of infancy (HI) are caused by mutations in either the sulfonylurea receptor-1 (SUR1) or the inward rectifying K(+) channel Kir6.2, two subunits of the beta-cell ATP-sensitive K(+) channel (K(ATP) channel).
|
11723059 |
2001 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence.
|
18390792 |
2008 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although the absence of enlarged islet cell nuclei is a useful discriminant of focal hyperinsulinism associated with a paternal ABCC8 mutation, further research is needed to understand the pathophysiology of other histological abnormalities in patients with HI, which may have implications for mechanisms of ductal and islet cell proliferation.
|
17378627 |
2007 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we report that two hyperinsulinism-associated SUR1 missense mutations, R74W and E128K, surprisingly reduce channel inhibition by intracellular ATP, a gating defect expected to yield the opposite disease phenotype neonatal diabetes.
|
19151370 |
2009 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In contrast to focal islet-cell hyperplasia, always sporadic to our knowledge, diffuse hyperinsulinism is a heterogeneous disorder involving several genes, various mechanisms of pathogenic mutations and different transmissions: (i) channelopathy involving the genes encoding the sulphonylurea receptor (SUR1) or the inward-rectifying potassium channel (Kir6.2) in recessively inherited HI or more rarely dominantly inherited HI; (ii) metabolic disorders implicating the short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) enzyme inrecessively inherited HI, the glucokinase gene (GK), the glutamate dehydrogenase gene (GLUD1) when hyperammonemia is associated, dominant exercise-induced HI with still-unknown mechanism, and more recently the human insulin receptor gene in dominantly inherited hyperinsulinism.
|
15868462 |
2005 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A reduction to homozygosity of an SUR-1 mutation is proposed as a critical part of the cause of focal hyperinsulinism.
|
10193261 |
1998 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have described a dominant heterozygous mutation--E1506K--in the sulfonylurea receptor 1 (SUR1) gene (ABCC8) in a Finnish family, which leads to congenital hyperinsulinaemia due to reduction of K(ATP)-channel activity.
|
12559865 |
2003 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
An amniocentesis was performed at 16 weeks gestation at which time two mutations in the SUR1 gene were identified consistent with the diagnosis of diffuse hyperinsulinism.
|
16969006 |
2006 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Since we have previously reported linkage between SUR1 and hyperglycemia, the present association between a SUR1 variant and hyperinsulinemia in normal individuals from a high diabetes risk ethnic group raises the possibility of primary insulin hypersecretion as an antecedent of type 2 diabetes in at least some individuals from this population.
|
9799081 |
1998 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The A-allele of a single nucleotide polymorphism (SNP) in exon 31 of the SUR1 gene (AGG-->AGA; Arg1273Arg) has previously been shown to be associated with hyperinsulinemia in nondiabetic Mexican-American subjects.
|
11030411 |
2000 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These results demonstrate that some dominant mutations of SUR1 can cause diazoxide-unresponsive hyperinsulinism.
|
21536946 |
2011 |
|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.
|
9769320 |
1998 |