Article
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.
The EMBO journal - 15 Mar 1994
Duquesnoy P, Sobrier M L, Duriez B, Dastot F, Buchanan C R, Savage M O, Preece M A, Craescu C T, Blouquit Y, Goossens M
Abstract excerpt
Growth hormone (GH) elicits a variety of biological activities mainly mediated by the GH receptor (GHR), a transmembrane protein that, based on in vitro studies, seemed to function as a homodimer. To test this hypothesis directly, we investigated patients displaying the classic features of Laron...
Topics
- Amino Acid Sequence
- Amino Acids
- Base Sequence
- DNA
- Dwarfism
- Female
- Growth Hormone
- Humans
- Male
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Pedigree
- Phenotype
- Protein Conformation