Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II

@article{Ryther2003DisruptionOE,
  title={Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II},
  author={Robin C. C. Ryther and Lindsay M. McGuinness and John A. Phillips and Chanda T. Moseley and Charalambos Magoulas and Iain C. A. F. Robinson and James G Patton},
  journal={Human Genetics},
  year={2003},
  volume={113},
  pages={140-148}
}
Isolated growth hormone deficiency type II (IGHD II) is characterized by short stature due to dominant-negative mutations of the human growth hormone gene (GH1). Most of the known mutations responsible for IGHD II cause aberrant splicing of GH1 transcripts. We have recently shown that mutations that cause exon 3 skipping and produce a dominant-negative 17.5-kDa isoform in humans also cause a dose-dependent disruption of GH secretory vesicles when expressed in GC cells and transgenic mice. We… CONTINUE READING
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