The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation

The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation

Key Clinical Message: In infants, especially with novel previously undescribed mutations of the KATP channel causing neonatal diabetes, in vitro studies can be used to both predict the response to sulphonylurea treatment and support a second trial of glibenclamide at higher than standard doses if th...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	O'Connell, S, Proks, P, Kramer, H, Mattis, K, Sachse, G, Joyce, C, Houghton, J, Ellard, S, Hattersley, A, Ashcroft, F, O'Riordan, S
Формат:	Journal article
Хэвлэсэн:	John Wiley and Sons Ltd 2015

Ижил төстэй зүйлс

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Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetes.
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Direct photoaffinity labeling of the Kir6.2 subunit of the ATP-sensitive K+ channel by 8-azido-ATP.
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