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Article

Intracellular entrapment of wild-type TSH receptor by oligomerization with mutants linked to dominant TSH resistance.

Human molecular genetics - 15 Oct 2005

Calebiro Davide, de Filippis Tiziana, Lucchi Simona, Covino Cesare, Panigone Sara, Beck-Peccoz Paolo, Dunlap David, Persani Luca

Abstract excerpt

TSH resistance is one of the causes of congenital hypothyroidism with thyroid gland in situ. We recently identified families with dominant transmission of partial TSH resistance due to heterozygous inactivating mutations in TSH receptor (TSHR) gene. Although we documented a poor routing of TSHR mutants to the cell membrane, the mechanism responsible for dominant inheritance of partial TSH resistance remained...

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Source

Identifiers

PMID: 16135555
DOI: 10.1093/hmg/ddi329

Genes

TSHR

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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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