Growth hormone (GH)-releasing hormone increases the expression of the dominant-negative GH isoform in cases of isolated GH deficiency due to GH splice-site mutations.

@article{Petkovic2010GrowthH,
  title={Growth hormone (GH)-releasing hormone increases the expression of the dominant-negative GH isoform in cases of isolated GH deficiency due to GH splice-site mutations.},
  author={Vibor Petkovic and Michela Godi and Didier Lochmatter and Andr{\'e}e Ebl{\'e} and Christa E Fl{\"u}ck and Iain C. A. F. Robinson and Primus E. Mullis},
  journal={Endocrinology},
  year={2010},
  volume={151 6},
  pages={2650-8}
}
An autosomal dominant form of isolated GH deficiency (IGHD II) can result from heterozygous splice site mutations that weaken recognition of exon 3 leading to aberrant splicing of GH-1 transcripts and production of a dominant-negative 17.5-kDa GH isoform. Previous studies suggested that the extent of missplicing varies with different mutations and the level of GH expression and/or secretion. To study this, wt-hGH and/or different hGH-splice site mutants (GH-IVS+2, GH-IVS+6, GH-ISE+28) were… CONTINUE READING
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