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
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
Locally invasive classical papillary thyroid carcinoma with TSH receptor I568T mutation: case report.
Nguyen J et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2022
Risk of malignancy in cytologically indeterminate thyroid nodules harboring thyroid stimulating hormone receptor mutations.
Whitmer D et al.
Frontiers in Endocrinology, 2022
The Thyrotropin Receptor Mutation Database Update.
Stephenson A et al.
Thyroid : Official Journal of the American Thyroid Association, 2020
Molecular Variants and Their Risks for Malignancy in Cytologically Indeterminate Thyroid Nodules.
Goldner WS et al.
Thyroid : Official Journal of the American Thyroid Association, 2019
Thyrotropin Receptor: Allosteric Modulators Illuminate Intramolecular Signaling Mechanisms at the Interface of Ecto- and Transmembrane Domain.
Marcinkowski P et al.
Molecular Pharmacology, 2019
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
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
A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular Carcinoma.
Blackburn J et al.
Case Reports in Genetics, 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
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
Prevalence of activating thyrotropin receptor and Gsα gene mutations in paediatric thyroid toxic adenomas: a multicentric Italian study.
Agretti P et al.
Clinical Endocrinology, 2013
Residual thyroid tissue after thyroidectomy in a patient with TSH receptor-activating mutation presenting as a neck mass.
Singer K et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
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
Evidence for activity-regulated hormone-binding cooperativity across glycoprotein hormone receptor homomers.
Zoenen M et al.
Nature Communications, 2012
TSH receptor extracellular region mutations in thyroid functioning nodules: further evidence for the functional role of this region in the receptor activation.
Russo D et al.
Endocrine, 2011
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
Predicting the functional impact of protein mutations: application to cancer genomics.
Reva B et al.
Nucleic Acids Research, 2011
Molecular description of non-autoimmune hyperthyroidism at a neonate caused by a new thyrotropin receptor germline mutation.
Biebermann H et al.
Thyroid Research, 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
Subclinical nonautoimmune hyperthyroidism in a family segregates with a thyrotropin receptor mutation with weakly increased constitutive activity.
Nishihara E et al.
Thyroid : Official Journal of the American Thyroid Association, 2010
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
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 family with a novel TSH receptor activating germline mutation (p.Ala485Val).
Akcurin S et al.
European Journal of Pediatrics, 2008
Prevalence of mutations in TSHR, GNAS, PRKAR1A and RAS genes in a large series of toxic thyroid adenomas from Galicia, an iodine-deficient area in NW Spain.
Palos-Paz F et al.
European Journal of Endocrinology, 2008
Evidence for cooperative signal triggering at the extracellular loops of the TSH receptor.
Kleinau G et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 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
Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene.
Chester J et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2008
Suppression of thyrotropin receptor constitutive activity by a monoclonal antibody with inverse agonist activity.
Chen CR et al.
Endocrinology, 2007
Contacts between extracellular loop two and transmembrane helix six determine basal activity of the thyroid-stimulating hormone receptor.
Kleinau G et al.
The Journal of Biological Chemistry, 2007
Similar prevalence of somatic TSH receptor and Gsalpha mutations in toxic thyroid nodules in geographical regions with different iodine supply in Turkey.
Gozu HI et al.
European Journal of Endocrinology, 2006
A hydrophobic cluster in the center of the third extracellular loop is important for thyrotropin receptor signaling.
Claus M et al.
Endocrinology, 2005
Novel thyrotropin receptor germline mutation (Ile568Val) in a Saxonian family with hereditary nonautoimmune hyperthyroidism.
Claus M et al.
Thyroid : Official Journal of the American Thyroid Association, 2005
Interactions between the extracellular domain and the extracellular loops as well as the 6th transmembrane domain are necessary for TSH receptor activation.
Neumann S et al.
European Journal of Endocrinology, 2005
Two novel mutations in the sixth transmembrane segment of the thyrotropin receptor gene causing hyperfunctioning thyroid nodules.
Gozu H et al.
Thyroid : Official Journal of the American Thyroid Association, 2005
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
Autonomously functioning thyroid nodules in a former iodine-deficient area commonly harbor gain-of-function mutations in the thyrotropin signaling pathway.
Georgopoulos NA et al.
European Journal of Endocrinology, 2003