Autosomal Dominant Growth Hormone Deficiency Disrupts Secretory Vesicles<i>in Vitro</i>and<i>in Vivo</i>in Transgenic Mice

Abstract excerpt

Autosomal dominant GH deficiency type II (IGHDII) is often associated with mutations in the human GH gene (GH1) that give rise to products lacking exon-3 ((Deltaexon3)hGH). In the heterozygous state, these act as dominant negative mutations that prevent the release of human pituitary GH (hGH). To determine the mechanisms of these dominant negative effects, we used a combination of transgenic and morphological...

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