Associated Papers
Predicting Pathogenicity of TSHR Missense Variants of Uncertain Significance: An Integrative Computational Study.
Hajali TA et al.
International Journal of Molecular Sciences, 2026
41684033 (PubMed )
Supplement: ijms-27-01614-s001.zip › ijms-4117947-supplementary.pdf
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
The Thyrotropin Receptor Mutation Database Update.
Stephenson A et al.
Thyroid : Official Journal of the American Thyroid Association, 2020
Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism.
Long W et al.
Endocrine Journal, 2018
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
26229975 (PubMed )
Supplement: mmc1.docx
Prevalence of thyrotropin receptor germline mutations and clinical courses in 89 hyperthyroid patients with diffuse goiter and negative anti-thyrotropin receptor antibodies.
Nishihara E et al.
Thyroid : Official Journal of the American Thyroid Association, 2014
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_MOESM1_ESM.docx
Subclinical nonautoimmune hyperthyroidism in a family segregates with a thyrotropin receptor mutation with weakly increased constitutive activity.
Nishihara E et al.
Thyroid : Official Journal of the American Thyroid Association, 2010
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