Article
Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency.
The Journal of clinical endocrinology and metabolism - 1 Oct 2007
Hsu Stephanie C, Groman Joshua D, Merlo Christian A, Naughton Kathleen, Zeitlin Pamela L, Germain-Lee Emily L, Boyle Michael P, Cutting Garry R
Abstract excerpt
CONTEXT: Patients with Albright hereditary osteodystrophy (AHO) have defects in stimulatory G protein signaling due to loss of function mutations in GNAS. The mechanism by which these mutations lead to the AHO phenotype has been difficult to establish due to the inaccessibility of the affected tissues. OBJECTIVE: The objective of the study was to gain insight into the downstream consequences of abnormal...
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