Associated Papers
Genotype-Phenotype Correlation in Germline TSH Receptor Activating Mutation Associated Hyperthyroidism: A Systematic Review.
Yamichannaiah C et al.
Clinical Endocrinology, 2025
Functional differences between TSHR alleles associate with variation in spawning season in Atlantic herring.
Chen J et al.
Communications Biology, 2021
An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial nonautoimmune hyperthyroidism.
Shin JH et al.
Annals of Pediatric Endocrinology & Metabolism, 2020
Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.
Fukami M et al.
Clinical Endocrinology, 2018
Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation.
Oliver-Petit I et al.
Clinical Case Reports, 2017
How genetic errors in GPCRs affect their function: Possible therapeutic strategies.
Stoy H et al.
Genes & Diseases, 2015
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
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
Genetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism.
Gozu HI et al.
Molecular and Cellular 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
Novel C617Y mutation in the 7th transmembrane segment of luteinizing hormone/choriogonadotropin receptor in a Japanese boy with peripheral precocious puberty.
Nagasaki K et al.
Endocrine Journal, 2010
Thyroid gene expression in familial nonautoimmune hyperthyroidism shows common characteristics with hyperfunctioning autonomous adenomas.
Hébrant A et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Cases of borderline in vitro constitutive thyrotropin receptor activity: how to decide whether a thyrotropin receptor mutation is constitutively active or not?
Mueller S et al.
Thyroid : Official Journal of the American Thyroid Association, 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
Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene.
Chester J et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 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
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
A novel thyrotropin receptor germline mutation (Asp617Tyr) causing hereditary hyperthyroidism.
Nishihara E et al.
Endocrine Journal, 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
The G protein-coupled receptors: pharmacogenetics and disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2005
Biological activity of activating thyroid-stimulating hormone receptor mutants depends on the cellular context.
Fuhrer D et al.
Endocrinology, 2003
Novel TSHR germline mutation (Met463Val) masquerading as Graves' disease in a large Welsh kindred with hyperthyroidism.
Fuhrer D et al.
Thyroid : Official Journal of the American Thyroid Association, 2000
A novel thyrotropin receptor mutation in an infant with severe thyrotoxicosis.
Esapa CT et al.
Thyroid : Official Journal of the American Thyroid Association, 1999
[Disorders caused by mutations of the thyrotropin receptor].
Kosugi S
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1998
Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor.
Grüters A et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Clinical consequences of activating germline mutations of TSH receptor, the concept of toxic hyperplasia.
Leclère J et al.
Hormone Research, 1997
Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia.
Tonacchera M et al.
The Journal of Clinical Endocrinology and Metabolism, 1996
Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism.
Duprez L et al.
Nature Genetics, 1994