Associated Papers
Genotype-Phenotype Correlation in Germline TSH Receptor Activating Mutation Associated Hyperthyroidism: A Systematic Review.
Yamichannaiah C et al.
Clinical Endocrinology, 2025
Familial Non-Autoimmune Hyperthyroidism Caused by an Extracellular Domain Variant (p.Leu267Phe) of the TSH Receptor.
Shimura K et al.
Hormone Research in Paediatrics, 2025
A Novel TSHR Gene Mutation in a Family with Non-autoimmune Hyperthyroidism.
Kufoof T et al.
Medical Archives (sarajevo, Bosnia and Herzegovina), 2024
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
The Thyrotropin Receptor Mutation Database Update.
Stephenson A et al.
Thyroid : Official Journal of the American Thyroid Association, 2020
Role of thyroid hormones in craniofacial development.
Leitch VD et al.
Nature Reviews. Endocrinology, 2020
Hyperthyroidism and Papillary Thyroid Carcinoma in Thyrotropin Receptor D633H Mutant Mice.
Jaeschke H et al.
Thyroid : Official Journal of the American Thyroid Association, 2018
Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.
Fukami M et al.
Clinical Endocrinology, 2018
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
2012 European thyroid association guidelines for the management of familial and persistent sporadic non-autoimmune hyperthyroidism caused by thyroid-stimulating hormone receptor germline mutations.
Paschke R et al.
European Thyroid Journal, 2012
From molecular details of the interplay between transmembrane helices of the thyrotropin receptor to general aspects of signal transduction in family a G-protein-coupled receptors (GPCRs).
Kleinau G et al.
The Journal of Biological Chemistry, 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 hyperthyroidism: hyperthyroidism due to activating TSHR mutations.
Hébrant A et al.
European Journal of Endocrinology, 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
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
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
A new silent germline mutation of the TSH receptor: coexpression in a hyperthyroid family member with a second activating somatic mutation.
Gozu HI et al.
Thyroid : Official Journal of the American Thyroid Association, 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
TSH signalling and cancer.
García-Jiménez C et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2007
Implications for molecular mechanisms of glycoprotein hormone receptors using a new sequence-structure-function analysis resource.
Kleinau G et al.
Molecular Endocrinology (baltimore, Md.), 2007
Repulsive separation of the cytoplasmic ends of transmembrane helices 3 and 6 is linked to receptor activation in a novel thyrotropin receptor mutant (M626I).
Ringkananont U et al.
Molecular Endocrinology (baltimore, Md.), 2006
TSH receptor mutation V509A causes familial hyperthyroidism by release of interhelical constraints between transmembrane helices TMH3 and TMH5.
Karges B et al.
The Journal of Endocrinology, 2005
The G protein-coupled receptors: pharmacogenetics and disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2005
Does a Leu 512 Arg thyrotropin receptor mutation cause an autonomously functioning papillary carcinoma?
Gozu H et al.
Thyroid : Official Journal of the American Thyroid Association, 2004
Biological activity of activating thyroid-stimulating hormone receptor mutants depends on the cellular context.
Fuhrer D et al.
Endocrinology, 2003
A novel activating mutation in the thyrotropin receptor gene in an autonomously functioning thyroid nodule developed by a Japanese patient.
Kosugi S et al.
European Journal of Endocrinology, 2000
Thyrotropin receptor mutations in thyroid diseases.
Yen PM
Reviews in Endocrine & Metabolic Disorders, 2000
[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