A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization.

Eitemau Tebyg

• Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome.
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• Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein.
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• Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism.
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• Transient juvenile hypoglycemia in GH insensitive Laron syndrome pigs is associated with insulin hypersensitivity
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  Cyhoeddwyd: (2026-01-01)
• Diverse growth hormone receptor gene mutations in Laron syndrome.
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