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
Delayed Presentation With Atypical Extrathyroidal Manifestations of Sporadic Non-autoimmune Congenital Hyperthyroidism: A Case Report and Literature Review.
Dighe R et al.
Cureus, 2025
New variant (Val597Ile) in transmembrane region of the TSH receptor with human chorionic gonadotropin hypersensitivity in familial gestational hyperthyroidism.
Caron P et al.
Clinical Endocrinology, 2020
The Thyrotropin Receptor Mutation Database Update.
Stephenson A et al.
Thyroid : Official Journal of the American Thyroid Association, 2020
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
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
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
Cases of borderline in vitro constitutive thyrotropin receptor activity: how to decide whether a thyrotropin receptor mutation is constitutively active or not?
Mueller S 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
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
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
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
Functional significance of the thyrotropin receptor germline polymorphism D727E.
Sykiotis GP et al.
Biochemical and Biophysical Research Communications, 2003
Activating mutations of the lutropin choriogonadotropin receptor in precocious puberty.
Shenker A
Receptors & Channels, 2002
A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism.
Alberti L et al.
European Journal of Endocrinology, 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
A novel thyrotropin receptor mutation in an infant with severe thyrotoxicosis.
Esapa CT et al.
Thyroid : Official Journal of the American Thyroid Association, 1999