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Article

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

International journal of molecular sciences - 7 Nov 2019

Kalveram Laura, Kleinau Gunnar, Szymańska Kamila, Scheerer Patrick, Rivero-Müller Adolfo, Grüters-Kieslich Annette, Biebermann Heike

Abstract excerpt

1) Background: Central congenital hypothyroidism (CCH) is a rare endocrine disorder that can be caused by mutations in the β-subunit of thyrotropin (TSHB). The TSHB mutation C105Vfs114X leads to isolated thyroid-stimulating-hormone-(TSH)-deficiency and results in a severe phenotype. The aim of this study was to gain more insight into the underlying molecular mechanism and the functional effects of this mutation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Signal-Regulated MAP Kinases

Share to GTP-Binding Protein alpha Subunits, Gq-G11

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Share to Receptors, Thyrotropin

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Source

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Identifiers

PMID: 31703413
DOI: 10.3390/ijms20225564
PMCID: PMC6888357

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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