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
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
26229975 (PubMed )
Supplement: mmc1.docx
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
25873976 (PubMed )
Supplement: 13633_2014_366_MOESM2_ESM.docx
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
Identification and evaluation of constitutively active thyroid stimulating hormone receptor mutations.
Lado-Abeal J et al.
Methods in Enzymology, 2010
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
Select a paper to view details