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Article

Endoplasmic reticulum stress and apoptosis contribute to the pathogenesis of dominantly inherited isolated GH deficiency due to GH1 gene splice site mutations.

Endocrinology - 1 Sept 2013

Ariyasu Daisuke, Yoshida Hiderou, Yamada Makoto, Hasegawa Yukihiro

Abstract excerpt

Dominantly inherited isolated GH deficiency is mainly caused by a heterozygous donor site mutation of intron 3 in the GH1 gene. An exon 3 deletion in GH (del32-71 GH) is produced from a mutant allele, whereas wild-type GH is produced from the other allele. Several studies have demonstrated a dominant negative effect of del32-71 GH on wild-type GH secretion, but the precise molecular mechanisms remain unclear. We...

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Identifiers

PMID: 23736291
DOI: 10.1210/en.2013-1249

Genes

ATF6
XBP1

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