ABCC8 gene mutations that cause permanent neonatal diabetes mellitus change single amino acids in the protein sequence. These mutations result in K-ATP channels that do not close, …

Results: ABCC8 mutations were found in seven of the 85 (8%) probands. Four patients were heterozygous for previously reported mutations and four novel mutations, E100K, G214R, …

Congenital hyperinsulinism (CHI) is a disease characterized by persistent insulin secretion despite severe hypoglycemia. Mutations in the pancreatic ATP-sensitive K+ (KATP) channel proteins …

Mutations in 12 different key genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, PGM1 and PMM2) that are involved in the regulation of insulin …

ABCC8 encodes a subunit of the β-cell potassium channel (K ATP) whose loss of function is responsible for congenital hyperinsulinism (CHI). Patients with two recessive mutations of …

Mutations have also been associated with non-insulin-dependent diabetes mellitus type II (neonatal diabetes), an autosomal dominant disease of defective insulin secretion, and …

2003年8月19日 · Focal HI is caused by a paternally inherited ABCC8 or KCNJ11 pathogenic variant associated with autosomal recessive HI in combination with a somatically acquired …

Mutations in at least nine genes have been found to cause congenital hyperinsulinism. Mutations in the ABCC8 gene are the most common known cause of the disorder. They account for this …

Mutations in the ABCC8 gene and deficiencies in the encoded protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of …

2007年9月1日 · Mutations in ABCC8 and KCNJ11, which encode the ATP-sensitive K + (K ATP) channel subunits sulfonylurea receptor 1 (SUR1) and inward rectifier K + channel Kir6.2, …