|
Hyperinsulinism
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SUR1 subunit are associated with familial hyperinsulinism (HI) (MIM:256450), an inherited disorder characterized by hyperinsulinism in the neonate.
|
9356020 |
1997 |
|
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 |
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 |
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 |
|
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 |
Biomarker
|
disease |
BEFREE |
The intravenous CaAIR is a safe and simple test for identifying infants with diffuse SUR1(-/-) hyperinsulinism or with focal congenital hyperinsulinism.
|
10931418 |
2000 |
|
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 |
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 |
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 |
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 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 |
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 |
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 |
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 |
Recessive mutations of the ATP-dependent plasma membrane potassium channel (K(ATP)) genes, SUR1 and K(ir)6.2, cause diffuse hyperinsulinism.
|
14715863 |
2004 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
It has been known for some time that loss of function mutations in KCNJ11, which encodes for Kir6.2, and ABCC8, which encodes for SUR1, can cause oversecretion of insulin and result in hyperinsulinemia (HI) of infancy; however, heterozygous activating mutations in KCNJ11 that result in the opposite phenotype of diabetes have recently been described.
|
16416420 |
2006 |
|
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 |
Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).
|
16429405 |
2006 |
|
Hyperinsulinism
|
0.100 |
Biomarker
|
disease |
BEFREE |
Consistent with this paradigm, loss-of-function mutations in the genes (KCNJ11 and ABCC8) that encode the two subunits (Kir6.2 and SUR1, respectively) of the ATP-sensitive K(+) (K(ATP)) channel underlie hyperinsulinism in humans, a genetic disorder characterized by dysregulated insulin secretion.
|
17919182 |
2007 |
|
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 |
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 |
Biomarker
|
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 |
|
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 |