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Article

Constitutive activation of the thyroid-stimulating hormone receptor (TSHR) by mutating Ile691 in the cytoplasmic tail segment.

PloS one - 21 Jan 2011

Liu Zheng, Fan Feiyue, Xiao Xiangjun, Sun Yuanming

Abstract excerpt

BACKGROUND: Autosomal dominant non-autoimmune hyperthyroidism (ADNAH) is a rare genetic disorder of the endocrine system. Molecular genetic studies in ADNAH have revealed heterozygous germline mutations in the TSHR. To data, mutations leading to an increase in the constitutive activation of the TSHR have been described in the transmembrane segments, exoloops and cytoplasmic loop of TSHR. These mutations result in...

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Share to Cyclic AMP
Share to Cytoplasm
Share to GTP-Binding Protein alpha Subunits, Gq-G11

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperthyroidism

Share to Inositol Phosphates

Share to Isoleucine

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Share to Receptors, Thyrotropin

Source

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Identifiers

PMID: 21283701
DOI: 10.1371/journal.pone.0016335
PMCID: PMC3025015

Genes

TSHR

Provenance

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Constitutive activation of the thyroid-stimulating hormone receptor (TSHR) by mutating Ile691 in the cytoplasmic tail segment.PMID 21283701Read ↗

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