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
Long-Term Disproportional TSH Hyposecretion in a Patient With Nonautoimmune Hyperthyroidism After Radioiodine Therapy.
Nishihara E et al.
Jcem Case Reports, 2023
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
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
Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene.
Cho WK et al.
Annals of Pediatric Endocrinology & Metabolism, 2018
Novel germline mutation (Leu512Met) in the thyrotropin receptor gene (TSHR) leading to sporadic non-autoimmune hyperthyroidism.
Roberts SA et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
Prevalence of thyrotropin receptor germline mutations and clinical courses in 89 hyperthyroid patients with diffuse goiter and negative anti-thyrotropin receptor antibodies.
Nishihara E et al.
Thyroid : Official Journal of the American Thyroid Association, 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
The association between development and progression of multinodular goiter and thyroid-stimulating hormone receptor gene D727E and P52T polymorphisms.
Bayram B et al.
Genetic Testing and Molecular Biomarkers, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Predicting the functional impact of protein mutations: application to cancer genomics.
Reva B et al.
Nucleic Acids 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
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
Hyperthyroidism caused by a germline activating mutation of the thyrotropin receptor gene: difficulties in diagnosis and therapy.
Bertalan R et al.
Thyroid : Official Journal of the American Thyroid Association, 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
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
Molecular and structural effects of inverse agonistic mutations on signaling of the thyrotropin receptor--a basally active GPCR.
Kleinau G et al.
Cellular and Molecular Life Sciences : Cmls, 2008
Evaluation of thyroid hormone action in a case of generalized resistance to thyroid hormone with chronic thyroiditis: discovery of a novel heterozygous missense mutation (G347A).
Sato H et al.
Endocrine Journal, 2007
TSH signalling and cancer.
García-Jiménez C et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2007
Sporadic congenital hyperthyroidism due to a germline mutation in the thyrotropin receptor gene (Leu 512 Gln) in a Japanese patient.
Nishihara E et al.
Endocrine Journal, 2006
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
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
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
A somatic mutation in the thyrotropin receptor gene in a patient with an autonomous nodule within a multinodular goiter.
Sykiotis GP et al.
Hormones (athens, Greece), 0