Associated Papers
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
26229975 (PubMed )
Supplement: mmc1.docx
Genetic determination of the hypothalamic-pituitary-thyroid axis: where do we stand?
Medici M et al.
Endocrine Reviews, 2015
Somatic mutations in 33 benign and malignant hot thyroid nodules in children and adolescents.
Eszlinger M et al.
Molecular and Cellular Endocrinology, 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
Constitutive activation of the thyroid-stimulating hormone receptor (TSHR) by mutating Ile691 in the cytoplasmic tail segment.
Liu Z et al.
Plos One, 2011
Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations.
Hébrant A et al.
European Journal of Endocrinology, 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
Lack of consistent association of thyrotropin receptor mutations in vitro activity with the clinical course of patients with sporadic non-autoimmune hyperthyroidism.
Lueblinghoff J et al.
Journal of Endocrinological Investigation, 2010
Hyperthyroidism caused by a germline activating mutation of the thyrotropin receptor gene: difficulties in diagnosis and therapy.
Bertalan R et al.
Thyroid : Official Journal of the American Thyroid Association, 2010
Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.
Tao YX
Pharmacology & Therapeutics, 2008
A novel TSHR gene mutation (Ile691Phe) in a Chinese family causing autosomal dominant non-autoimmune hyperthyroidism.
Liu Z et al.
Journal of Human Genetics, 2008
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