Associated Papers
Personalized and Tumor Informed Circulating Tumor DNA Assay for Molecular Residual Disease Monitoring of Solid Malignancies.
Liu L et al.
Medcomm, 2025
Genotype-Phenotype Correlation in Germline TSH Receptor Activating Mutation Associated Hyperthyroidism: A Systematic Review.
Yamichannaiah C et al.
Clinical Endocrinology, 2025
Severe Phenotype of De Novo TSHR Activating Pathogenic Variants.
Torrey AC et al.
Case Reports in Endocrinology, 2025
Unraveling the significance of TSHR mutations in indeterminate thyroid cytology specimens.
Andrianus S et al.
Diagnostic Cytopathology, 2023
Combined approaches identify known and novel genes associated with sheep litter size and non-seasonal breeding.
Tao L et al.
Animal Genetics, 2021
The Thyrotropin Receptor Mutation Database Update.
Stephenson A et al.
Thyroid : Official Journal of the American Thyroid Association, 2020
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
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 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
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
TSH signalling and cancer.
García-Jiménez C et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2007
Ras homolog enriched in striatum inhibits the functional activity of wild type thyrotropin, follicle-stimulating hormone, luteinizing hormone receptors and activating thyrotropin receptor mutations by altering their expression in COS-7 cells.
Agretti P et al.
Journal of Endocrinological Investigation, 2007
Subclinical hyperthyroidism due to a thyrotropin receptor (TSHR) gene mutation (S505R).
Pohlenz J et al.
Acta Paediatrica (oslo, Norway : 1992), 2006
TSH receptor mutation V509A causes familial hyperthyroidism by release of interhelical constraints between transmembrane helices TMH3 and TMH5.
Karges B et al.
The Journal of Endocrinology, 2005
Does a Leu 512 Arg thyrotropin receptor mutation cause an autonomously functioning papillary carcinoma?
Gozu H et al.
Thyroid : Official Journal of the American Thyroid Association, 2004
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
A novel activating mutation in the thyrotropin receptor gene in an autonomously functioning thyroid nodule developed by a Japanese patient.
Kosugi S et al.
European Journal of Endocrinology, 2000
Thyrotropin receptor mutations in thyroid diseases.
Yen PM
Reviews in Endocrine & Metabolic Disorders, 2000
[Disorders caused by mutations of the thyrotropin receptor].
Kosugi S
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1998
Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor.
Grüters A et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Clinical consequences of activating germline mutations of TSH receptor, the concept of toxic hyperplasia.
Leclère J et al.
Hormone Research, 1997
Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia.
Tonacchera M et al.
The Journal of Clinical Endocrinology and Metabolism, 1996