A Newly Discovered TSHR Variant (L665F) Associated With Nonautoimmune Hyperthyroidism in an Austrian Family Induces Constitutive TSHR Activation by Steric Repulsion Between TM1 and TM7

Objective: New in vivo mutations in G protein-coupled receptors open opportunities for insights into the mechanism of receptor activation. Here we describe the molecular mechanism of constitutive TSH receptor (TSHR) activation in an Austrian family with three generations of familial nonautoimmune hy...

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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 2014-10, Vol.99 (10), p.E2051-E2059
Hauptverfasser:	Jaeschke, Holger, Schaarschmidt, Joerg, Eszlinger, Markus, Huth, Sandra, Puttinger, Rudolf, Rittinger, Olaf, Meiler, Jens, Paschke, Ralf
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Austria Base Sequence Family Health Female Goiter, Nodular - genetics Humans Hyperthyroidism - congenital Hyperthyroidism - genetics Pedigree Point Mutation Pregnancy Pregnancy Complications - genetics Receptors, Thyrotropin - chemistry Receptors, Thyrotropin - genetics Stereoisomerism
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