GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.

Have any questions? Please email us at ecoliwiki@gmail.com

TableEdit

Jump to: navigation, search

PMID:16511605

You don't have sufficient rights on this wiki to edit tables. Perhaps you need to log in. Changes you make in the Table editor will not be saved back to the wiki

See Help for Help on this wiki. See the documentation for how to use the table editor

Citation

Pantel, J, Legendre, M, Cabrol, S, Hilal, L, Hajaji, Y, Morisset, S, Nivot, S, Vie-Luton, MP, Grouselle, D, de Kerdanet, M, Kadiri, A, Epelbaum, J, Le Bouc, Y and Amselem, S (2006) Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. J. Clin. Invest. 116:760-8

Abstract

The growth hormone (GH) secretagogue receptor (GHSR) was cloned as the target of a family of synthetic molecules endowed with GH release properties. As shown recently through in vitro means, this receptor displays a constitutive activity whose clinical relevance is unknown. Although pharmacological studies have demonstrated that its endogenous ligand--ghrelin--stimulates, through the GHSR, GH secretion and appetite, the physiological importance of the GHSR-dependent pathways remains an open question that gives rise to much controversy. We report the identification of a GHSR missense mutation that segregates with short stature within 2 unrelated families. This mutation, which results in decreased cell-surface expression of the receptor, selectively impairs the constitutive activity of the GHSR, while preserving its ability to respond to ghrelin. This first description, to our knowledge, of a functionally significant GHSR mutation, which unveils the critical importance of the GHSR-associated constitutive activity, discloses an unusual pathogenic mechanism of growth failure in humans.

Links

PubMed PMC1386106 Online version:10.1172/JCI25303

Keywords

Adolescent; Adult; Amino Acid Sequence; Amino Acid Substitution/genetics; Animals; Body Height/genetics; Cell Line; Child; Female; Ghrelin; Growth Disorders/genetics; Humans; Male; Middle Aged; Molecular Sequence Data; Mutation, Missense; Pedigree; Peptide Hormones/metabolism; Peptide Hormones/physiology; Receptors, G-Protein-Coupled/deficiency; Receptors, G-Protein-Coupled/genetics; Receptors, G-Protein-Coupled/physiology; Receptors, Ghrelin

public



Cancel