Article

Decreased Activity of the <i>Ghrhr</i> and <i>Gh</i> Promoters Causes Dominantly Inherited GH Deficiency

2019-02-08

Abstract excerpt

Isolated growth hormone deficiency type II (IGHD2) is mainly caused by heterozygous splice-site mutations in intron 3 of the GH1 gene. A dominant negative effect of the mutant growth hormone (GH) lacking exon 3 on wild-type GH secretion has been proposed; however, the molecular mechanisms involved are elusive. To uncover the molecular systems underlying GH deficiency in IGHD2, we established IGHD2 model mice, whi...

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Literature Corpus work: 42715427-a3c2-51ce-8f81-1a77356fff76
DOI: 10.1101/545384

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