Associated Papers
Mechanism of hormone and allosteric agonist mediated activation of follicle stimulating hormone receptor.
Duan J et al.
Nature Communications, 2023
Analytical and Clinical Validation of Expressed Variants and Fusions From the Whole Transcriptome of Thyroid FNA Samples.
Angell TE et al.
Frontiers in Endocrinology, 2019
Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.
Fukami M et al.
Clinical Endocrinology, 2018
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Somatic mutations in 33 benign and malignant hot thyroid nodules in children and adolescents.
Eszlinger M et al.
Molecular and Cellular Endocrinology, 2014
Autonomous adenomas caused by somatic mutations of the thyroid-stimulating hormone receptor in children.
Grob F et al.
Hormone Research in Paediatrics, 2014
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Two rare TSH receptor amino acid substitutions in toxic thyroid adenomas.
Nanba K et al.
Endocrine Journal, 2012
The hinge region of human thyroid-stimulating hormone (TSH) receptor operates as a tunable switch between hormone binding and receptor activation.
Majumdar R et al.
Plos One, 2012
Shared sporadic and somatic thyrotropin receptor mutations display more active in vitro activities than familial thyrotropin receptor mutations.
Lueblinghoff J et al.
Thyroid : Official Journal of the American Thyroid Association, 2011
Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations.
Hébrant A et al.
European Journal of Endocrinology, 2011
The hinge region: an important receptor component for GPHR function.
Mueller S et al.
Trends in Endocrinology and Metabolism: Tem, 2010
Identification and evaluation of constitutively active thyroid stimulating hormone receptor mutations.
Lado-Abeal J et al.
Methods in Enzymology, 2010
Thyroid gene expression in familial nonautoimmune hyperthyroidism shows common characteristics with hyperfunctioning autonomous adenomas.
Hébrant A et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Autonomous thyroid adenoma: only an adulthood disease?
Schwab KO et al.
The Journal of Pediatrics, 2009
A somatic gain-of-function mutation in the thyrotropin receptor gene producing a toxic adenoma in an infant.
Kohn B et al.
Thyroid : Official Journal of the American Thyroid Association, 2009
A family with a novel TSH receptor activating germline mutation (p.Ala485Val).
Akcurin S et al.
European Journal of Pediatrics, 2008
Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.
Tao YX
Pharmacology & Therapeutics, 2008
The thyrotropin receptor hinge region is not simply a scaffold for the leucine-rich domain but contributes to ligand binding and signal transduction.
Mizutori Y et al.
Molecular Endocrinology (baltimore, Md.), 2008
Suppression of thyrotropin receptor constitutive activity by a monoclonal antibody with inverse agonist activity.
Chen CR et al.
Endocrinology, 2007
An aromatic environment in the vicinity of serine 281 is a structural requirement for thyrotropin receptor function.
Jaeschke H et al.
Endocrinology, 2006
Structural analysis of leucine-rich-repeat variants in proteins associated with human diseases.
Matsushima N et al.
Cellular and Molecular Life Sciences : Cmls, 2005
An outline of inherited disorders of the thyroid hormone generating system.
Knobel M et al.
Thyroid : Official Journal of the American Thyroid Association, 2003
Thyrotropin receptor mutations as a tool to understand thyrotropin receptor action.
Wonerow P et al.
Journal of Molecular Medicine (berlin, Germany), 2001
The TSH receptor and its role in thyroid disease.
Kopp P
Cellular and Molecular Life Sciences : Cmls, 2001
Sporadic nonautoimmune congenital hyperthyroidism due to a strong activating mutation of the thyrotropin receptor gene.
Tonacchera M et al.
Thyroid : Official Journal of the American Thyroid Association, 2000
Thyrotropin receptor mutations in hyperfunctioning thyroid adenomas from Brazil.
Nogueira CR et al.
Thyroid : Official Journal of the American Thyroid Association, 1999
Alterations of neonatal thyroid function.
Grüters A et al.
Acta Paediatrica (oslo, Norway : 1992). Supplement, 1999
Congenital hyperthyroidism caused by a solitary toxic adenoma harboring a novel somatic mutation (serine281-->isoleucine) in the extracellular domain of the thyrotropin receptor.
Kopp P et al.
The Journal of Clinical Investigation, 1997