Article

Genome-edited zebrafish model of <i>ABCC8</i> loss-of-function disease

2021-10-11

Abstract excerpt

K ATP channel gain- (GOF) and loss-of-function (LOF) mutations in SUR1 or Kir6.2 underlie human neonatal diabetes mellitus (NDM) and congenital hyperinsulinism (CHI), respectively. Genetically modified mice with transgenic overexpression of GOF mutations recapitulate many features of human NDM and transgenic mice expressing incomplete K ATP LOF do reiterate mild hyperinsulinism, although complete K ATP knockout...

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Literature Corpus work: 6be86686-9684-553b-8fbf-06d4e4653d96
DOI: 10.1101/2021.10.10.461291

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