Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer

Article Abstract:

A study is presented to identify mutations in germ-line deoxyribonucleic acid (DNA) mismatch-repair genes without considering the family history or the results of tumor testing in a prospective, population-based series of 870 cases of early-onset colorectal cancer, a group enriched for genetically determined disease. The method devised to identify patients with colorectal cancer who are carriers of mutations in DNA repair genes finds survival was similar among carriers and non-carriers.

Diagnosis, DNA repair, Colon cancer

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Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

Article Abstract:

The patients with neonatal diabetes for mutations in ABCC8 are screened and the electrophysiologic activity of mutant and the wild-type ATP-sensitive potassium ([K.sub.ATP]) channels are assayed. The dominant mutations in ABCC8 accounted for 12% of cases in neonatal diabetes and the diabetes resulted from a newly discovered mechanism whereby the basal magnesium-nucleotide-dependent stimulatory action of SUR1 on the Kir pore is elevated and blockade by sulfonylureas is preserved .

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Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

Article Abstract:

The study conducted to find out the causes of neonatal diabetes is presented. The study reveals that Heterozygous activating mutations in the gene encoding Kir6.2 cause permanent neonatal diabetes and can also be associated with muscle weakness and epilepsy.

Causes of, Potassium channels

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