Associated Papers
A de novo pathogenic variant in TSHR expanding the phenotype of persistent sporadic congenital non-autoimmune hyperthyroidism: a case report and literature review.
Xu W et al.
Translational Pediatrics, 2025
Contribution of Germline Predisposition to Pediatric Thyroid Cancer.
Harrison C et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Genotype-Phenotype Correlation in Germline TSH Receptor Activating Mutation Associated Hyperthyroidism: A Systematic Review.
Yamichannaiah C et al.
Clinical Endocrinology, 2025
Delayed Presentation With Atypical Extrathyroidal Manifestations of Sporadic Non-autoimmune Congenital Hyperthyroidism: A Case Report and Literature Review.
Dighe R et al.
Cureus, 2025
Sensitive Sequencing Analysis Suggests Thyrotropin Receptor and Guanine Nucleotide-Binding Protein G Subunit Alpha as Sole Driver Mutations in Hot Thyroid Nodules.
Stephenson A et al.
Thyroid : Official Journal of the American Thyroid Association, 2020
The Thyrotropin Receptor Mutation Database Update.
Stephenson A et al.
Thyroid : Official Journal of the American Thyroid Association, 2020
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
Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene.
Cho WK et al.
Annals of Pediatric Endocrinology & Metabolism, 2018
Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.
Fukami M et al.
Clinical Endocrinology, 2018
Clinical Significance of Thyroid-Stimulating Hormone Receptor Gene Mutations and/or Sodium-Iodine Symporter Gene Overexpression in Indeterminate Thyroid Fine Needle Biopsies.
Guan H et al.
Frontiers in Endocrinology, 2018
Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.
Bassett JH et al.
Endocrine Reviews, 2016
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature.
Larsen CC et al.
International Journal of Pediatric Endocrinology, 2014
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
The hinge region of the TSH receptor stabilizes ligand binding and determines different signaling profiles of human and bovine TSH.
Jaeschke H et al.
Endocrinology, 2011
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
Genetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism.
Gozu HI et al.
Molecular and Cellular Endocrinology, 2010
Genetic defects, thyroid growth and malfunctions of the TSHR in pediatric patients.
Biebermann H et al.
Frontiers in Bioscience (landmark Edition), 2010
Lack of consistent association of thyrotropin receptor mutations in vitro activity with the clinical course of patients with sporadic non-autoimmune hyperthyroidism.
Lueblinghoff J et al.
Journal of Endocrinological Investigation, 2010
Identification and evaluation of constitutively active thyroid stimulating hormone receptor mutations.
Lado-Abeal J et al.
Methods in Enzymology, 2010
Sporadic nonautoimmune neonatal hyperthyroidism due to A623V germline mutation in the thyrotropin receptor gene.
Aycan Z et al.
Journal of Clinical Research in Pediatric Endocrinology, 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
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
Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene.
Chester J et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2008
Subclinical hyperthyroidism due to a thyrotropin receptor (TSHR) gene mutation (S505R).
Pohlenz J et al.
Acta Paediatrica (oslo, Norway : 1992), 2006
Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation.
Vaidya B et al.
Clinical Endocrinology, 2004
Demonstration of reduced in vivo surface expression of activating mutant thyrotrophin receptors in thyroid sections.
Sequeira M et al.
European Journal of Endocrinology, 2002
The TSH receptor and its role in thyroid disease.
Kopp P
Cellular and Molecular Life Sciences : Cmls, 2001
Detection of thyroid-stimulating hormone receptor and Gsalpha mutations: in 75 toxic thyroid nodules by denaturing gradient gel electrophoresis.
Trülzsch B et al.
Journal of Molecular Medicine (berlin, Germany), 2001
Novel TSHR germline mutation (Met463Val) masquerading as Graves' disease in a large Welsh kindred with hyperthyroidism.
Fuhrer D et al.
Thyroid : Official Journal of the American Thyroid Association, 2000
Functional characterization of five constitutively activating thyrotrophin receptor mutations.
Wonerow P et al.
Clinical Endocrinology, 2000
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
A novel thyrotropin receptor mutation in an infant with severe thyrotoxicosis.
Esapa CT et al.
Thyroid : Official Journal of the American Thyroid Association, 1999
Variable phenotype associated with Ser505Asn-activating thyrotropin-receptor germline mutation.
Führer D et al.
Thyroid : Official Journal of the American Thyroid Association, 1999
Hyperthyroidism in early infancy: pathogenesis, clinical features and diagnosis with a focus on neonatal hyperthyroidism.
Polak M
Thyroid : Official Journal of the American Thyroid Association, 1998
[Disorders caused by mutations of the thyrotropin receptor].
Kosugi S
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1998
Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene.
Holzapfel HP et al.
The Journal of Clinical Endocrinology and Metabolism, 1997