An inactivating mutation within the first extracellular loop of the thyrotropin receptor impedes normal posttranslational maturation of the extracellular domain.

No abstract is available for this paper.

• Publication year

  2009

• Venue

  Endocrinology

• Publication date

  2009-02-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1210/en.2008-1145PMID 18927215
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• The thyrotropin receptor hinge region is not simply a scaffold for the leucine-rich domain but contributes to ligand binding and signal transduction.

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• Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities?

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• Journal of Clinical Endocrinology and Metabolism Printed in U.S.A. Copyright © 1997 by The Endocrine Society Two Novel Mutations in the Thyrotropin (TSH) Receptor Gene in a Child with Resistance to TSH*

  year unknowncited by this paper

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