Associated Papers
Functional mutations in the thyroid-stimulating hormone receptor in natural stickleback populations at sites identical to human disease-causing mutations.
Kitano J et al.
Bmc Ecology and Evolution, 2025
Genotype-Phenotype Correlation in Germline TSH Receptor Activating Mutation Associated Hyperthyroidism: A Systematic Review.
Yamichannaiah C et al.
Clinical Endocrinology, 2025
Familial Nonautoimmune Hyperthyroidism Due to a TSH Receptor Gene Pathogenic Variant.
Takahashi S et al.
Jcem Case Reports, 2024
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
Unraveling the significance of TSHR mutations in indeterminate thyroid cytology specimens.
Andrianus S et al.
Diagnostic Cytopathology, 2023
Functional enrichment analysis of mutated genes in children with hyperthyroidism.
Mao X et al.
Frontiers in Endocrinology, 2023
Novel presentation of the c.1856A > G (p.Asp619Gly) TSHR gene-activating variant: relapsing hyperthyroidism in three subsequent generations manifesting in early childhood and an in vitro functional study.
Bezdicka M et al.
Hormones (athens, Greece), 2021
Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant.
Suput Omladic J et al.
Medicina (kaunas, Lithuania), 2021
Familial neonatal nonautoimmune hyperthyroidism due to a gain-of-function (D619G) thyrotropin-receptor mutation.
Taha D et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021
The Thyrotropin Receptor Mutation Database Update.
Stephenson A et al.
Thyroid : Official Journal of the American Thyroid Association, 2020
Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.
Fukami M et al.
Clinical Endocrinology, 2018
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
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 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
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 novel thyrotropin receptor germline mutation (Asp617Tyr) causing hereditary hyperthyroidism.
Nishihara E et al.
Endocrine Journal, 2007
Mechanisms of disease: Mutations of G proteins and G-protein-coupled receptors in endocrine diseases.
Lania AG et al.
Nature Clinical Practice. Endocrinology & Metabolism, 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
Activating mutations of the lutropin choriogonadotropin receptor in precocious puberty.
Shenker A
Receptors & Channels, 2002
Thyrotropin receptor mutations in hyperfunctioning thyroid adenomas from Brazil.
Nogueira CR et al.
Thyroid : Official Journal of the American Thyroid Association, 1999
The detection of somatic mutations of thyrotropin receptor gene in fine needle biopsy samples from thyroid nodules.
Syrenicz A et al.
Endocrine Regulations, 1999
Screening of thyrotropin receptor mutations by fine-needle aspiration biopsy in autonomous functioning thyroid nodules in multinodular goiters.
Tassi V et al.
Thyroid : Official Journal of the American Thyroid Association, 1999
Role of the third intracellular loop for the activation of gonadotropin receptors.
Schulz A et al.
Molecular Endocrinology (baltimore, Md.), 1999
The extracellular thyrotropin receptor domain is not a major candidate for mutations in toxic thyroid nodules.
Führer D et al.
Thyroid : Official Journal of the American Thyroid Association, 1998
[Disorders caused by mutations of the thyrotropin receptor].
Kosugi S
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1998
Deletions in the third intracellular loop of the thyrotropin receptor. A new mechanism for constitutive activation.
Wonerow P et al.
The Journal of Biological Chemistry, 1998
Hyperfunctioning thyroid nodules in toxic multinodular goiter share activating thyrotropin receptor mutations with solitary toxic adenoma.
Tonacchera M et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Somatic mutations in the thyrotropin receptor gene and not in the Gs alpha protein gene in 31 toxic thyroid nodules.
Führer D et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas.
Parma J et al.
The Journal of Clinical Endocrinology and Metabolism, 1997