Article
A new phenotype of nongoitrous and nonautoimmune hyperthyroidism caused by a heterozygous thyrotropin receptor mutation in transmembrane helix 6.
The Journal of clinical endocrinology and metabolism - 1 Aug 2010
Winkler Franziska, Kleinau Gunnar, Tarnow Patrick, Rediger Anne, Grohmann Lisa, Gaetjens Imke, Krause Gerd, L'Allemand Dagmar, Grüters Annette, Krude Heiko, Biebermann Heike
Abstract excerpt
CONTEXT: Activating mutations in the TSHR gene were found in patients suffering from nonautoimmune hyperthyroidism. In the past, it was assumed that thyroid hyperplasia is due to constitutive activation of the Gs/adenylyl cyclase signaling pathway; however, the physiological role of the Gq/11 pathway in this context remains unclear. OBJECTIVE: In this study, we investigated molecular details of the TSHR in a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.