Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) can occur as a result of mutations in the subunits that form the ATP-sensitive potassium channel (K+ATP) in pancreatic beta-cells which play a major role in modulating insulin secretion from the beta-cells. Mutations have been shown in the genes for these subunits, namely for the plasma membrane sulfonylurea receptor (SUR1), ...

Most common diseases also run in families as rare, monogenic forms. Diabetes is no exception. Mutations in approximately 20 different genes are now known to cause monogenic diabetes, a disease group that can be subclassified into maturity-onset diabetes of the young, neonatal diabetes and mitochondrial diabetes. In some families, additional features, such as urogenital malformations, exocrine ...

Congenital Hyperinsulinism (CHI) is a clinically and genetically heterogeneous disease. The clinical heterogeneity may range from mild subtle hypoglycaemia to severe life threatening hypoglycaemia. The commonest genetic cause of congenital hyperinsulinism are mutations in the genes ABCC8 and KCNJ11 encoding the two subunits (SUR1 and Kir6.2 respectively) ...

Beacham et al.: Microsatellite DNA variation and estimation of stock composition of Oncorhynchus nerka.: Microsatellite DNA variation and estimation of stock composition of Oncorhynchus nerka.: Microsatellite DNA variation and estimation of stock composition of Oncorhynchus ...

DNA mutation binding proteins alone and as chimeric proteins with nucleases are used with solid supports to detect DNA sequence variations, DNA mutations and single nucleotide polymorphisms. The solid supports may be flow cytometry beads, DNA chips, glass slides or DNA dips ...

Description: Chloroplast DNA (cpDNA) variation was examined in 48 northern red oaks at 14 sites representing contrasting glacial histories and age structures ...

Genetic variations in drug metabolizing enzymes and targets are established determinants of adverse drug reactions and interactions, but less is known about the role of genetic polymorphisms in membrane transport proteins. MRP1 (ABCC1) is one of 13 polytopic membrane proteins that comprise the 'C' subfamily of the ATP-binding cassette (ABC) superfamily of transport proteins. ...

Several years ago, we initiated a long-term project of cloning new human ATP-binding cassette (ABC) transporters and linking them to various disease phenotypes. As one of the results of this project, we present two new members of the human ABCC subfamily, ABCC11 and ABCC12. These two new human ABC transporters were fully characterized and mapped to the human chromosome 16q12. With the addition of ...

Chimeric proteins having both DNA mutation binding activity and nuclease activity are synthesized by recombinant technology. The proteins are of the general formula A-L-B and B-L-A where A is a peptide having DNA mutation binding activity, L is a linker and B is a peptide having nuclease activity. The chimeric proteins are useful for detection and ...

Regional Variation in mtDNA of the Lesser Prairie-Chicken Complete publication (PDF) Journal Article Product Type: 2010 ......

... CO;2 Intraspecific Variation of Second Internal Transcribed Spacer of Nuclear Ribosomal DNA Among Populations of Anopheles ( ......

... Intragenomic rDNA ITS2 Variation in the Neotropical Anopheles ( Nyssorhynchus) ... Page 6. Li and Wilkerson· Anopheles ITS2 Intragenomic ...

Chloroplast DNA variation will be investigated using universal primers and digestion with restriction enzymes. This will provide phylogenetic analysis of ...

of the rise of B-DNA ind_.ces a change in the width of the transmission ..... Experimentally, when DNA dries, we expect that there would be variation in ...

PURPOSE:: Congenital hyperinsulinism of infancy (OMIM# 256450) is a devastating disease most commonly caused by dominant or recessive mutations in either ABCC8 or KCNJ11, the genes that encode for the ?-cell adenosine triphosphate-regulated potassium channel. A unique combination of a paternally inherited germline mutation and somatic ...