Dominant Form of Congenital Hyperinsulinism Maps to HK1 Region on 10q
نویسندگان
چکیده
منابع مشابه
[Congenital hyperinsulinism].
In the last five years, our knowledge about the heterogenous syndrome of congenital hyperinsulinism (HI) has expanded explosively. HI may be familiar or sporadic, mild or severe, transitory or persistent, and histologically focal or diffuse. At least 63 disease-causing mutations have been found in the genes for the beta cell's ATP-dependent potassium channel, whose elements are the sulphonylure...
متن کاملMolecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations in ABCC8.
Congenital Hyperinsulinism (CHI) is a rare heterogeneous disease characterized by unregulated insulin secretion. Dominant mutations in ABCC8 causing medically unresponsive CHI have been reported; however, the molecular mechanisms are not clear. The molecular basis of medically unresponsive CHI due to dominant ABCC8 mutations has been studied in 10 patients, who were medically unresponsive to di...
متن کاملNovel Hypoglycemia Phenotype in Congenital Hyperinsulinism Due to Dominant Mutations of Uncoupling Protein 2.
Context The rarest genetic form of congenital hyperinsulinism (HI) has been associated with dominant inactivating mutations in uncoupling protein 2 (UCP2), a mitochondrial inner membrane carrier that modulates oxidation of glucose vs amino acids. Objective To evaluate the frequency of UCP2 mutations in children with HI and phenotypic features of this form of HI. Design We examined 211 child...
متن کاملMolecular mechanisms of congenital hyperinsulinism.
Congenital hyperinsulinism (CHI) is a complex heterogeneous condition in which insulin secretion from pancreatic β-cells is unregulated and inappropriate for the level of blood glucose. The inappropriate insulin secretion drives glucose into the insulin-sensitive tissues, such as the muscle, liver and adipose tissue, leading to severe hyperinsulinaemic hypoglycaemia (HH). At a molecular level, ...
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ژورنال
عنوان ژورنال: Hormone Research in Paediatrics
سال: 2013
ISSN: 1663-2818,1663-2826
DOI: 10.1159/000351943