Relapsing diabetes can result from moderately activating mutations in KCNJ11

Neonatal diabetes can either remit and hence be transient or else may be permanent. These two phenotypes were considered to be genetically distinct. Abnormalities of 6q24 are the commonest cause of transient neonatal diabetes (TNDM). Mutations in KCNJ11, which encodes Kir6.2, the pore-forming subuni...

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Veröffentlicht in:	Human molecular genetics 2005-04, Vol.14 (7), p.925-934
Hauptverfasser:	Gloyn, Anna L., Reimann, Frank, Girard, Christophe, Edghill, Emma L., Proks, Peter, Pearson, Ewan R., Temple, I. Karen, Mackay, Deborah J.G., Shield, Julian P.H., Freedenberg, Debra, Noyes, Kathryn, Ellard, Sian, Ashcroft, Frances M., Gribble, Fiona M., Hattersley, Andrew T.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine Triphosphate - chemistry Adult Animals ATP-Binding Cassette Transporters Biological and medical sciences Child, Preschool Chromosomes, Human, Pair 6 Diabetes Mellitus - genetics Diabetes. Impaired glucose tolerance DNA Mutational Analysis Dose-Response Relationship, Drug Electrophysiology Endocrine pancreas. Apud cells (diseases) Endocrinopathies Etiopathogenesis. Screening. Investigations. Target tissue resistance Female Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Heterozygote Homozygote Humans Infant Infant, Newborn Inhibitory Concentration 50 Male Medical sciences Models, Molecular Molecular and cellular biology Mutation Oocytes - metabolism Pedigree Phenotype Potassium Channels - genetics Potassium Channels, Inwardly Rectifying - genetics Rats Receptors, Drug Recurrence Sulfonylurea Receptors Xenopus laevis
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