Article
An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome.
The Journal of clinical endocrinology and metabolism - 1 Sept 1994
Shenker A, Weinstein L S, Sweet D E, Spiegel A M
Abstract excerpt
McCune-Albright syndrome (MAS) is a sporadic disease characterized by polyostotic fibrous dysplasia, café-au-lait spots, and multiple endocrinopathies. The etiology of fibrous dysplasia is unknown. Activating mutations of codon 201 in the gene encoding the alpha-subunit of Gs, the G-protein that stimulates adenylyl cyclase, have been found in all affected MAS tissues that have been studied. Initial attempts to...
Topics
- Adenylyl Cyclases
- Adult
- Bone and Bones
- Cartilage
- Child
- Child, Preschool
- Codon
- DNA
- Female
- Fibrous Dysplasia, Polyostotic
- Frozen Sections
- GTP-Binding Proteins