Growth hormon secretagogue resistance is an autosomal dominant or recessive short stature syndrome caused by growth hormone secretagogue receptor (GHSR) mutations. Panitrance is variable even in the same family.
1. |
Goddard AD et al. (1995) Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group. |
2. |
Ayling RM et al. (1997) A dominant-negative mutation of the growth hormone receptor causes familial short stature. |
3. |
Kaji H et al. (2001) Hormonal regulation of the human ghrelin receptor gene transcription. |
4. |
García A et al. (2001) Regulation of Pit-1 expression by ghrelin and GHRP-6 through the GH secretagogue receptor. |
5. |
Dixit VD et al. (2004) Ghrelin inhibits leptin- and activation-induced proinflammatory cytokine expression by human monocytes and T cells. |
6. |
Zigman JM et al. (2005) Mice lacking ghrelin receptors resist the development of diet-induced obesity. |
7. |
Pantel J et al. (2006) Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. |
8. |
Pantel J et al. (2009) Recessive isolated growth hormone deficiency and mutations in the ghrelin receptor. |
9. |
Howard AD et al. (1996) A receptor in pituitary and hypothalamus that functions in growth hormone release. |
10. |
McKee KK et al. (1997) Molecular analysis of rat pituitary and hypothalamic growth hormone secretagogue receptors. |
11. |
OMIM.ORG article Omim 604271 |