The Pathogenic TSH β-Subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR

The Pathogenic TSH β-Subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR

(1) Background: Central congenital hypothyroidism (CCH) is a rare endocrine disorder that can be caused by mutations in the &#946;-subunit of thyrotropin (<i>TSHB</i>). The <i>TSHB</i> mutation C105Vfs114X leads to isolated thyroid-stimulating-hormone-(TSH)-deficiency and...

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Bibliographic Details
Main Authors: Laura Kalveram, Gunnar Kleinau, Kamila Szymańska, Patrick Scheerer, Adolfo Rivero-Müller, Annette Grüters-Kieslich, Heike Biebermann
Format: Article
Language:English
Published: MDPI AG 2019-11-01
Series:International Journal of Molecular Sciences
Subjects:
central congenital hypothyroidism
g-protein coupled receptors
thyroid-stimulating hormone
tshr
Online Access:https://www.mdpi.com/1422-0067/20/22/5564

Internet

https://www.mdpi.com/1422-0067/20/22/5564

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