Article
Identification and functional characterization of two new somatic mutations causing constitutive activation of the thyrotropin receptor in hyperfunctioning autonomous adenomas of the thyroid.
The Journal of clinical endocrinology and metabolism - 1 Dec 1994
Paschke R, Tonacchera M, Van Sande J, Parma J, Vassart G
Abstract excerpt
It has recently been shown that somatic and germ line mutations of the TSH receptor gene cause autonomous hyperfunctioning thyroid adenomas and nonautoimmune toxic thyroid hyperplasia by constitutive activation of the TSH receptor. A "saturated" map of these mutations is a prerequisite for a syst...
Topics
- Adenoma
- Alanine
- Amino Acid Sequence
- Base Sequence
- Cell Line
- Codon
- Cyclic AMP
- Gene Expression
- Humans
- Isoleucine
- Molecular Sequence Data
- Mutation
- Receptors, Thyrotropin
- Structure-Activity Relationship
- Threonine
- Thyroid Neoplasms
- Transfection
- Valine