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
Familial Non-Autoimmune Hyperthyroidism Caused by an Extracellular Domain Variant (p.Leu267Phe) of the TSH Receptor.
Shimura K et al.
Hormone Research in Paediatrics, 2025
The intramolecular agonist is obligate for activation of glycoprotein hormone receptors.
Schulze A et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
The Thyrotropin Receptor Mutation Database Update.
Stephenson A et al.
Thyroid : Official Journal of the American Thyroid Association, 2020
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
The Activation Mechanism of Glycoprotein Hormone Receptors with Implications in the Cause and Therapy of Endocrine Diseases.
Brüser A et al.
The Journal of Biological Chemistry, 2016
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
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
Severe congenital non-autoimmune hyperthyroidism associated to a mutation in the extracellular domain of thyrotropin receptor gene.
Scaglia PA et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2012
Two rare TSH receptor amino acid substitutions in toxic thyroid adenomas.
Nanba K et al.
Endocrine Journal, 2012
Predicting the functional impact of protein mutations: application to cancer genomics.
Reva B et al.
Nucleic Acids Research, 2011
Defining structural and functional dimensions of the extracellular thyrotropin receptor region.
Kleinau G et al.
The Journal of Biological Chemistry, 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
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
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
[Non-immune thyrotoxicosis caused by thyroid-stimulating hormone receptor activating gene mutation (the first description in Russia)].
Peterkova VA et al.
Problemy Endokrinologii, 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
A new silent germline mutation of the TSH receptor: coexpression in a hyperthyroid family member with a second activating somatic mutation.
Gozu HI et al.
Thyroid : Official Journal of the American Thyroid Association, 2008
Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene.
Chester J et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2008
A novel TSHR gene mutation (Ile691Phe) in a Chinese family causing autosomal dominant non-autoimmune hyperthyroidism.
Liu Z et al.
Journal of Human Genetics, 2008
A new case of familial nonautoimmune hyperthyroidism caused by the M463V mutation in the TSH receptor with anticipation of the disease across generations: a possible role of iodine supplementation.
Ferrara AM et al.
Thyroid : Official Journal of the American Thyroid Association, 2007
TSH signalling and cancer.
García-Jiménez C et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 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 novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism.
Nwosu BU et al.
Thyroid : Official Journal of the American Thyroid Association, 2006
An aromatic environment in the vicinity of serine 281 is a structural requirement for thyrotropin receptor function.
Jaeschke H et al.
Endocrinology, 2006
Cysteine 390 mutation of the TSH receptor modulates its ectodomain as an inverse agonist on the serpentine domain with decrease in basal constitutive activity.
Ho SC et al.
Molecular and Cellular Endocrinology, 2005
Structural analysis of leucine-rich-repeat variants in proteins associated with human diseases.
Matsushima N et al.
Cellular and Molecular Life Sciences : Cmls, 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
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
An activating mutation of the thyrotropin receptor gene in hereditary non-autoimmune hyperthyroidism.
Lee YS et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2002
The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism.
Biebermann H et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Effects of mutations involving the highly conserved S281HCC motif in the extracellular domain of the thyrotropin (TSH) receptor on TSH binding and constitutive activity.
Ho SC et al.
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
Constitutively activating TSH-receptor mutations as a molecular cause of non-autoimmune hyperthyroidism in childhood.
Biebermann H et al.
Langenbeck's Archives of Surgery, 2000
Activating thyrotropin receptor mutations are present in nonadenomatous hyperfunctioning nodules of toxic or autonomous multinodular goiter.
Tonacchera M et al.
The Journal of Clinical Endocrinology and Metabolism, 2000