Associated Papers
Unraveling the significance of TSHR mutations in indeterminate thyroid cytology specimens.
Andrianus S et al.
Diagnostic Cytopathology, 2023
Whole-genome Sequencing of Follicular Thyroid Carcinomas Reveal Recurrent Mutations in MicroRNA Processing Subunit DGCR8.
Paulsson JO et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
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
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
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
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
Molecular description of non-autoimmune hyperthyroidism at a neonate caused by a new thyrotropin receptor germline mutation.
Biebermann H et al.
Thyroid 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
An inactivating mutation within the first extracellular loop of the thyrotropin receptor impedes normal posttranslational maturation of the extracellular domain.
Sura-Trueba S et al.
Endocrinology, 2009
Prevalence of TSH receptor and Gsalpha mutations in 45 autonomously functioning thyroid nodules in Japan.
Nishihara E et al.
Endocrine Journal, 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
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
Evidence for cooperative signal triggering at the extracellular loops of the TSH receptor.
Kleinau G et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 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
Contacts between extracellular loop two and transmembrane helix six determine basal activity of the thyroid-stimulating hormone receptor.
Kleinau G et al.
The Journal of Biological Chemistry, 2007
Two novel mutations in the sixth transmembrane segment of the thyrotropin receptor gene causing hyperfunctioning thyroid nodules.
Gozu H et al.
Thyroid : Official Journal of the American Thyroid Association, 2005
Proper targeting and activity of a nonfunctioning thyroid-stimulating hormone receptor (TSHr) combining an inactivating and activating TSHr mutation in one receptor.
Agretti P et al.
European Journal of Biochemistry, 2003
Oncogenic mutations in the thyrotropin receptor of autonomously functioning thyroid nodules in the Japanese population.
Vanvooren V et al.
European Journal of Endocrinology, 2002
Activation of the cAMP pathway by the TSH receptor involves switching of the ectodomain from a tethered inverse agonist to an agonist.
Vlaeminck-Guillem V et al.
Molecular Endocrinology (baltimore, Md.), 2002
Thyrotropin receptor mutations as a tool to understand thyrotropin receptor action.
Wonerow P et al.
Journal of Molecular Medicine (berlin, Germany), 2001
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
Functioning and nonfunctioning thyroid adenomas involve different molecular pathogenetic mechanisms.
Tonacchera M et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Activating thyrotropin receptor mutations in histologically heterogeneous hyperfunctioning nodules of multinodular goiter.
Tonacchera M et al.
Thyroid : Official Journal of the American Thyroid Association, 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
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
Somatic mutations causing constitutive activity of the thyrotropin receptor are the major cause of hyperfunctioning thyroid adenomas: identification of additional mutations activating both the cyclic adenosine 3',5'-monophosphate and inositol phosphate-Ca2+ cascades.
Parma J et al.
Molecular Endocrinology (baltimore, Md.), 1995
Clinical Utility of Next-Generation Sequencing-Based Molecular Panel in Thyroid Nodules.
Gondaliya H et al.
Indian Journal of Endocrinology and Metabolism, 0