TSH Receptor Mutation References
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Endocrinology 141: 3514-3517
The extracellular domain suppresses constitutive activity of the transmembrane domain of the human TSH receptor: implications for hormone-receptor interaction and antagonist design.
2000
Zhang et al.
Biochem Biophys Res Commun. 211:205-10
Constitutive activation of the thyrotropin receptor by deletion of a portion of the extracellular domain.
1995
Zhang et al.
Experimental and Therapeutic Medicine
Identification and functional characterization of a novel thyrotropin receptor mutation (V87L) in a Chinese woman with subclinical hypothyroidism
2016
Yuan et al.
Endocr J 55:415-423.
Thyrotropin receptor and thyroid transcription factor-1 genes variant in Chinese children with congenital hypothyroidism.
2008
Yamaguchi et al.
JCEM
Targeted next-generation sequencing for congenital hypothyroidism with positive neonatal TSH screening
2020
Xu et al.
Endocrine-related cancer
Outcome and molecular characteristics of non-invasive encapsulated follicular variant of papillary thyroid carcinoma with oncocytic features
2019
Wong et al.
Endocrine Journal
alse-positive TSH receptor antibody results in an infant with activating TSHR mutation
2018
Wonerow et al.
Clin. Endocrinol. 53: 461-468
Functional characterization of five constitutively activating thyrotrophin receptor mutations
2000
Wonerow et al.
J. Biol. Chem. 273: 7900-7905
Deletions in the third intracellular loop of the thyrotropin receptor. A new mechanism for constitutive activation.
1998
Winkler et al.
J Clin Endocrinol Metab.95:3605-10
A new phenotype of nongoitrous and nonautoimmune hyperthyroidism caused by a heterozygous thyrotropin receptor mutation in transmembrane helix 6.
2010
Watkins et al.
Endocr Pract.14: 479-83
Persistent neonatal thyrotoxicosis in a neonate secondary to a rare thyroid-stimulating hormone receptor activating mutation: case report and literature review.
2008
Watanabe et al.
Pediatrics and Neonatology
A novel c.1391_1428delinsT mutation in TSHR as a cause of familial congenital hypothyroidism with delayed onset
2019
Wang et al.
Molecular Medicine Reports
Mutation spectrum analysis of 29 causative genes
in 43 Chinese patients with congenital hypothyroidism
2020
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Mol. Endocrinol. 6: 394-398
Studies on the role of amino acids 38-45 in the expression of a functional thyrotropin receptor
1992
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Clinical Endocrinology
Mild TSH resistance: Clinical and hormonal features in childhood and adulthood
2017
Vanvooren et al.
Eur J Endocrinol. 147: 287-91
Oncogenic mutations in the thyrotropin receptor of autonomously functioning thyroid nodules in the Japanese population.
2002
Van Sande et al.
J. Clin. Endocrinol. Metab. 80: 2577-2585
Somatic and germline mutations of the TSH receptor gene in thyroid diseases
1995
Vaidya et al.
Clin Endocrinol. 60: 711-8
Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation.
2004
Urizar et al.
J Biol Chem 280:17135-17141
An activation switch in the rhodopsin family of G protein-coupled receptors: the thyrotropin receptor.
2005
Tsunekawa et al.
Thyroid 16:471-479.
Identification and functional analysis of novel inactivating thyrotropin receptor mutations in patients with thyrotropin resistance.
2006
Tsunekawa et al.
The Japanese journal of clinical pathology
Thyroid disease caused by receptor abnormality.
2014
Trülzsch et al.
J. Mol. Med. 78: 684-691
Detection of thyroid-stimulating hormone receptor and Gsalpha mutations: in 75 toxic thyroid nodules by denaturing gradient gel electrophoresis.
2001
Tong et al.
Endocrine Pathology
Mutations of TSHR and TP53 genes in an aggressive clear cell follicular carcinoma of the thyroid
2015
Tonacchera et al.
J. Clin. Endocrinol. Metab. 81: 547-554
Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia
1996
Tonacchera et al.
J. Clin. Endocrinol. Metab. 83: 492-498
Hyperfunctioning thyroid nodules in toxic multinodular goiter share activating thyrotropin receptor mutations with solitary toxic adenoma
1998
Tonacchera et al.
J. Clin. Endocrinol. Metab. 84: 4155-4158
Functioning and nonfunctioning thyroid adenomas involve different molecular pathogenetic mechanisms
1999
Tonacchera et al.
Thyroid 10: 859-863
Sporadic nonautoimmune congenital hyperthyroidism due to a strong activating mutation of the thyrotropin receptor gene
2000
Tonacchera et al.
J. Clin. Endocrinol. Metab. 85: 1001-1008
Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene
2000
Tonacchera et al.
J. Clin. Endocrinol. Metab. 86: 4543-4546
Thyroid Resistance to TSH Complicated by Autoimmune Thyroiditis
2001
Tonacchera et al.
Thyroid 8: 559-564
Activating thyrotropin receptor mutations in histologically heterogeneous hyperfunctioning nodules of multinodular goiter
1998
Tonacchera et al.
J. Clin. Endocrinol. Metab. 85: 1001-1008
Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene
2000
Tonacchera et al.
J Clin Endocrinol Metab. 85: 2270-4
Activating thyrotropin receptor mutations are present in nonadenomatous hyperfunctioning nodules of toxic or autonomous multinodular goiter.
2000
Tonacchera et al.
J Clin Endocrinol Metab 89:5787-5793.
Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism.
2004
Tonacchera et al.
Clin Endocrinol (Oxf) 67:712-718.
Identification of TSH receptor mutations in three families with resistance to TSH.
2007
Tonacchera et al.
J Endocrinol Invest 26:997-1000.
TSH receptor and Gs(alpha) genetic analysis in children with Down s syndrome and subclinical hypothyroidism.
2003
Tomonaga et al.
Journal of Pediatric Surgery Case Reports
A case of congenital autonomous thyroid adenoma with a somatic activating gene mutation in the thyroid-stimulating hormone receptor
2018
Tiosano et al.
Thyroid 9: 887-894
The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor
1999
Thomas et al.
Acta Endocrinologica 100: 512-518
Familial hyperthyroidism without evidence of autoimmunity
1982
Tenenbaum-Rakover et al.
J Clin Endocrinol Metab 94:1706-1712.
Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community.
2009
Tassi et al.
Thyroid 9: 353-357
Screening of thyrotropin receptor mutations by fine-needle aspiration biopsy in autonomous functioning thyroid nodules in multinodular goiters
1999
Takeshita et al.
J. Clin. Endocrinol. Metab. 80: 2607-2611
Rarity of oncogenic mutations in the thyrotropin receptor of autonomously functioning thyroid nodules in Japan
1995
Taha et al.
Journal of the Endocrine Society
MON-264 Familial Neonatal Nonautoimmune Hyperthyroidism Due To A Thyrotropin Receptor Gene Mutation (A619G)
2019
Sykiotis et al.
Hormones (Athens). 1: 42-6
A somatic mutation in the thyrotropin receptor gene in a patient with an autonomous nodule within a multinodular goiter.
2002
Sykiotis et al.
Biochem Biophys Res Commun 301:1051-1056
Functional significance of the thyrotropin receptor germline polymorphism D727E.
2003
Sura-Trueba et al.
Endocrinology 150:1043-1050.
An inactivating mutation within the first extracellular loop of the thyrotropin receptor impedes normal posttranslational maturation of the extracellular domain.
2009
Supornsilchai et al.
Clin Endocrinol. 70: 623-8
Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene.
2009
Sunthornthepvarakui et al.
N. Engl. J. Med. 332: 155-157
Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene
1995
Sugisawa et al.
Clin Pediatr Endocrinol
Identification of compound heterozygous TSHR mutations (R109Q and R450H) in a patient with nonclassic TSH resistance and functional characterization of the mutant receptors.
2018
Stephenson et al.
Thyroid
Sensitive Sequencing Analysis Suggests Thyrotropin
Receptor and Guanine Nucleotide-Binding Protein G Subunit
Alpha as Sole Driver Mutations in Hot Thyroid Nodules
2020
Stephenson et al
Canadian Journal of Diabetes
Advanced Bone Age Present in a Neonatal Case of Sporadic Non-Autoimmune Hyperthyroidism Before Onset of Symptoms
2018