Störungen der Regulation des Wachstums

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Ryther RC et al. (2003) Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II.

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Lewis MD et al. (2004) A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway.

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Igarashi Y et al. (1993) A new mutation causing inherited growth hormone deficiency: a compound heterozygote of a 6.7 kb deletion and a two base deletion in the third exon of the GH-1 gene.

Cogan JD et al. (1993) Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency.

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Cogan JD et al. (1995) A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study.

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Cogan JD et al. (1997) A novel mechanism of aberrant pre-mRNA splicing in humans.

Smith LE et al. (1997) Essential role of growth hormone in ischemia-induced retinal neovascularization.

Takahashi Y et al. (1997) Biologically inactive growth hormone caused by an amino acid substitution.

Boguszewski CL et al. (1997) Increased proportion of circulating non-22-kilodalton growth hormone isoforms in short children: a possible mechanism for growth failure.

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