Article
Activating mutations of the TSH receptor gene cause thyroid diseases.
Annales d'endocrinologie - 1 Jan 1996
Vassart G, Van Sande J, Parma J, Tonacchera M, Duprez L, Swillens S, Dumont J
Abstract excerpt
Spontaneous mutations have been identified in the gene encoding the thyrotropin receptor, the effect of which is to activate the receptor in the absence of hormone. When they occur within thyrocytes (somatic mutations) activating mutations cause clonal expansion of the cells into a hyperfunctiona...
Topics
- Gene Expression Regulation
- Genes
- Germ-Line Mutation
- Humans
- Hyperthyroidism
- Mutation
- Receptors, Thyrotropin
- Structure-Activity Relationship
- Thyroid Neoplasms