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The patient carries a heterozygous mutation c.2690A>T(p.D897V) of ABCC8 gene.
Minor allele ABCC8 SNP genotypes have increased risk of cerebral edema, while major SNP alleles are protective in severe TBI.
Mutation in ABCC8 gene is associated with congenital hyperinsulinism.
ABCC8 mutation causing loss of function of beta-cell KATP channels lead to congenital hyperinsulinism, higher basal [Ca(2+)] i and insulin secretion, increased insulin secretion in response to amino acids but not to glucose, increased basal rate of oxygen consumption and mitochondrial mass, increased rates of glycolysis, increased serine/glycine and glutamine biosynthesis, and low gamma-aminobutyric acid (GABA) levels.
Hyperinsulinism-causing mutations cause multiple molecular defects in SUR1 nucleotide-binding domains.
Genes ABCC7 (show CFTR Proteins), A3, A8, A12 (show UGT1A9 Proteins), and C8 prevailed among the most upregulated or downregulated ones. In conclusion, the results supported our theory about general adenosine triphosphate-binding cassette gene expression profiles and their importance for cancer on clinical as well as research levels.
Cross-linking experiments showed that KATP channel inhibitors promoted interactions between the N terminus of Kir6.2 and SUR1, whereas channel openers did not, suggesting the inhibitors enhance intersubunit interactions to overcome channel biogenesis and trafficking defects.
Mutations of the ABCC8 gene is associated with congenital hyperinsulinism.
ABCC8 mutation is associated with neonatal diabetes mellitus and iDEND syndrome.
The most frequently seen mutations in Turkish patients with congenital hyperinsulinism (CHI) were ATP binding cassette subfamily C member 8 (ABCC8) gene, followed by 3-hydroxyacyl CoA dehydrogenase (HADH (show HADH Proteins)) and kcnj11 (show KCNJ11 Proteins) channel (KCNJ11 (show KCNJ11 Proteins)) genes.
Despite its importance in central nervous system (CNS) injuries, sulfonylurea receptor 1 (SUR1) upregulation appears to play no part in rodent anterior ischemic optic neuropathy (rAION) injury.
study provides evidence for a role of Abcc8(ATP-binding cassette sub-family C) in early-phase glucose-mediated insulin (show INS Proteins) secretion and validates this gene as a contributor to beta-cell dysfunction in type 2 diabetes
We conclude that the gradual development of glucose intolerance in patients with the SUR1-E1506K mutation might, as in the mouse model, result from impaired insulin (show INS Proteins) secretion due a failure of insulin (show INS Proteins) content to increase with age.
The results confirm that Kir6.2 (show KCNJ11 Proteins) contributes to APD shortening in both atria and ventricle during metabolic stress, and that SUR1 is required for atrial APD shortening while SUR2A (show ABCC9 Proteins) is required for ventricular APD shortening.
EPAC (show RAPGEF3 Proteins) interaction with SUR1 controls seizure susceptibility and possibly acts via regulation of glutamate (show GRIN1 Proteins) release.
the role of CpG methylation in regulating SUR1 and SUR2 (show ABCC9 Proteins) expression
SUR1 controls K(ATP) channel activity but not TRPM4 (show TRPM4 Proteins) channels.
Conserved intramolecular disulfide bond is critical to trafficking and fate of ATP-binding cassette (ABC (show ABCB6 Proteins)) transporters ABCB6 (show ABCB6 Proteins) and sulfonylurea receptor 1 (SUR1)/ABCC8.
ATP regulates pancreatic beta-cell K(ATP) channel activity, not only by its direct actions on Kir6.2 pore subunit, but also via ATP modulation of Syn-1A binding to SUR1.
Diazoxide does not open the ventricular sarcolemmal adenosine triphosphate-sensitive potassium channel but provides volume homeostasis via an SUR1-dependent pathway in mouse ventricular myocytes.
islets express mRNA transcripts for sulfonylurea receptor 1 (Sur1), inward rectifying potassium channel (show KCNAB2 Proteins) (Kir6.2 (show KCNJ11 Proteins), associated with Sur1), glucagon-like peptide 1 receptor (GLP1R (show GLP1R Proteins)), and adrenergic receptor alpha 2A (show ADRA2A Proteins) (ADRalpha2A)
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternative splicing of this gene has been observed\; however, the transcript variants have not been fully described.
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
, ATP-binding cassette, sub-family C, member 8
, ATP-binding cassette sub-family C member 8
, ATP-binding cassette transporter sub-family C member 8
, sulfonylurea receptor (hyperinsulinemia)
, sulfonylurea receptor 1
, sulfonylurea receptor
, sulphonylurea receptor 1