Associated Papers
Severe Phenotype of De Novo TSHR Activating Pathogenic Variants.
Torrey AC et al.
Case Reports in Endocrinology, 2025
Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model.
Makkonen K et al.
Jci Insight, 2024
Activation of mitogen-activated protein kinase signaling and development of papillary thyroid carcinoma in thyroid-stimulating hormone receptor D633H knockin mice.
Eszlinger M et al.
European Thyroid Journal, 2023
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
Locally invasive classical papillary thyroid carcinoma with TSH receptor I568T mutation: case report.
Nguyen J et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2022
Risk of malignancy in cytologically indeterminate thyroid nodules harboring thyroid stimulating hormone receptor mutations.
Whitmer D et al.
Frontiers in Endocrinology, 2022
High Prevalence of DICER1 Mutations and Low Frequency of Gene Fusions in Pediatric Follicular-Patterned Tumors of the Thyroid.
Bae JS et al.
Endocrine Pathology, 2021
Hyperfunctioning Papillary Thyroid Carcinoma with a BRAF Mutation: The First Case Report and a Literature Review.
Shinkai S et al.
European Thyroid Journal, 2021
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
Role of thyroid hormones in craniofacial development.
Leitch VD et al.
Nature Reviews. Endocrinology, 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
Analytical and Clinical Validation of Expressed Variants and Fusions From the Whole Transcriptome of Thyroid FNA Samples.
Angell TE et al.
Frontiers in Endocrinology, 2019
Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene.
Cho WK et al.
Annals of Pediatric Endocrinology & Metabolism, 2018
Hyperthyroidism and Papillary Thyroid Carcinoma in Thyrotropin Receptor D633H Mutant Mice.
Jaeschke H et al.
Thyroid : Official Journal of the American Thyroid Association, 2018
Cancer risk and clinicopathological characteristics of thyroid nodules harboring thyroid-stimulating hormone receptor gene mutations.
Mon SY et al.
Diagnostic Cytopathology, 2018
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
Autonomous adenomas caused by somatic mutations of the thyroid-stimulating hormone receptor in children.
Grob F et al.
Hormone Research in Paediatrics, 2014
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
Lack of in vitro constitutive activity for four previously reported TSH receptor mutations identified in patients with nonautoimmune hyperthyroidism and hot thyroid carcinomas.
Jaeschke H et al.
Clinical 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
Autonomous thyroid adenoma: only an adulthood disease?
Schwab KO et al.
The Journal of Pediatrics, 2009
A somatic gain-of-function mutation in the thyrotropin receptor gene producing a toxic adenoma in an infant.
Kohn B et al.
Thyroid : Official Journal of the American Thyroid Association, 2009
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
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
Follicular carcinoma presenting as autonomous functioning thyroid nodule and containing an activating mutation of the TSH receptor (T620I) and a mutation of the Ki-RAS (G12C) genes.
Niepomniszcze H et al.
Thyroid : Official Journal of the American Thyroid Association, 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
Activating mutations of the lutropin choriogonadotropin receptor in precocious puberty.
Shenker A
Receptors & Channels, 2002
A free carboxylate oxygen in the side chain of position 674 in transmembrane domain 7 is necessary for TSH receptor activation.
Neumann S et al.
Molecular Endocrinology (baltimore, Md.), 2001
The TSH receptor and its role in thyroid disease.
Kopp P
Cellular and Molecular Life Sciences : Cmls, 2001
Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor.
Liu G et al.
The New England Journal of Medicine, 1999
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