TSH Receptor Mutation References


Nagashima et al.
Thyroid 11: 551-559
Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin
2001
Nagashima et al.
Thyroid 11:551-559.
Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin.
2001
Mueller et al.
Thyroid. 19(7):765-73
Cases of borderline in vitro constitutive thyrotropin receptor activity: how to decide whether a thyrotropin receptor mutation is constitutively active or not?
2009
Mon et al.
Diagnostic Cytopathology
Cancer risk and clinicopathological characteristics of thyroid nodules harboring thyroid-stimulating hormone receptor gene mutations
2018
Mircescu et al.
J. Paediatr. 137: 585-587
Hyperfunctioning malignant thyroid nodule in an 11-year-old girl: pathologic and molecular studies.
2000
Marinescu et al.
Journal of Endocrine Society
MON-265 Congenital Hypothyroidism and Bilateral Ptosis Due to a Novel TSHR Gene Mutation
2019
Ma et al.
J Pediatr Endocrinol Metab 23:1339-1344.
The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism.
2010
Lüblinghoff et al.
J Endocrinol Invest 33:228-233
Lack of consistent association of thyrotropin receptor mutations in vitro activity with the clinical course of patients with sporadic non-autoimmune hyperthyroidism.
2010
Lucas-Herald et al.
J Pediatr Endocrinol Metab
Novel heterozygous thyrotropin receptor mutation presenting with neonatal hyperthyrotropinaemia, mild thyroid hypoplasia and absent uptake on radioisotope scan
2013
Long W, Lu G, Zhou W, Yang Y, Zhang B, Zhou H, Jiang L, Yu B
Endocrine journal
Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism
2018
Liu et al.
J Hum Genet. 53:475-8
A novel TSHR gene mutation (Ile691Phe) in a Chinese family causing autosomal dominant non-autoimmune hyperthyroidism.
2008
Li et al.
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY
Identification of a novel TSHR mutation from a Chinese baby with congenital hypothyroidism due to ectopy
2016
Lee et al.
J Pediatr Endocrinol Metab. 15: 211-5
An activating mutation of the thyrotropin receptor gene in hereditary non-autoimmune hyperthyroidism.
2002
Lee et al.
Clin Endocrinol (Oxf) 75:715-721.
Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism.
2011
Leclère et al.
Hormone Research 47: 158-162
Clinical consequences of activating germline mutations of TSH receptor, the concept of toxic hyperplasia
1997
Lavard et al.
Hormone Research 51: 43-46
Long-Term Follow-Up of an Infant with Thyrotoxicosis due to Germline Mutation of the TSH Receptor gene (Met453Thr)
1999
Larsen et al.
International journal of pediatric endocrinology
A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature
2014
Lado-Abeal et al.
Thyroid 21:103-109.
A family with congenital hypothyroidism caused by a combination of loss-of-function mutations in the thyrotropin receptor and adenylate cyclase-stimulating G alpha-protein subunit genes.
2011
Lado-Abeal
Endocrine-related cancer
Identification of a paired box gene 8–peroxisome proliferator-activated receptor gamma (PAX8–PPAR?) rearrangement mosaicism in a patient with an autonomous functioning follicular thyroid carcinoma bearing an activating mutation in the TSH receptor
2010
Lábadi, Árpád, et al.
The Journal of Clinical Endocrinology & Metabolism
Loss-of-function variants in a Hungarian cohort reveal structural insights on TSH receptor maturation and signaling
2015
Kraemer et al.
J Pediatr Endocrinol Metab. 22: 269-74
Activating TSH-receptor mutation (Met453Thr) as a cause of adenomatous non-autoimmune hyperthyroidism in a 3-year-old boy.
2009
Kosugi et al.
Eur. J. Endocrinol. 143: 471-477
A novel activating mutation in the thyrotropin receptor gene in an autonomously functioning thyroid nodule developed by a Japanese patient
2000
Kosugi et al.
FEBS Lett 406: 139-141
Aspartate-474 in the first exoplasmic loop of the thyrotropin receptor is crucial for receptor activation
1997
Kosugi et al.
Mol. Endocrinol. 7: 1009-1020
Substitutions of different regions of the third cytoplasmic loop of the thyrotropin (TSH) receptor have selective effects on constitutive, TSH-, and TSH receptor autoantibody-stimulated phosphoinositide and 3',5'-cyclic adenosine monophosphate signal gene
1993
Kosugi et al.
FEBS Lett 356: 291-294
Constitutive activation of cyclic AMP but not phosphatidylinositol signaling caused by four mutations in the 6th transmembrane helix of the human thyrotropin receptor.
1994
Kosugi et al.
Mol. Endocrinol. 8: 498-509
The middle portion in the second cytoplasmic loop of the thyrotropin receptor plays a crucial role in adenylate cyclase activation.
1994
Kosugi et al.
Thyroid 1:321-330
The extracellular domain of the TSH receptor has an immunogenic epitope reactive with Graves' IgG but unrelated to receptor function as well as determinants having different roles for high affinity TSH binding and the activity of thyroid-stimulating autoantibodies.
1991
Kopp et al.
N Engl J Med. 332: 150-54
Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene
1995
Kopp et al.
Thyroid 7: 765-769
Congenital nonautoimmune hyperthyroidism in a nonidentical twin caused by a sporadic germline mutation in the thyrotropin receptor gene
1997
Kopp et al.
J. Clin. Invest. 100: 1634-1639
Congenital hyperthyroidism caused by a solitary toxic adenoma harboring a novel somatic mutation (serine281 -> isoleucine) in the extracellular domain of the thyrotropin receptor
1997
Kohn et al.
Thyroid
A somatic gain-of-function mutation in the thyrotropin receptor gene producing a toxic adenoma in an infant
2009
Kleinau et al.
Mol Endocrinol 21:574-580
Implications for molecular mechanisms of glycoprotein hormone receptors using a new sequence-structure-function analysis resource.
2007
Kleinau et al.
J Biol Chem 282:518-525
Contacts between extracellular loop two and transmembrane helix six determine basal activity of the thyroid-stimulating hormone receptor.
2007
Kleinau et al.
FASEB J 22:2798-2808
Evidence for cooperative signal triggering at the extracellular loops of the TSH receptor.
2008
Kleinau et al.
Cell Mol Life Sci 65:3664-3676
Molecular and structural effects of inverse agonistic mutations on signaling of the thyrotropin receptor--a basally active GPCR.
2008
Kinjo S et al.
International journal of pediatric endocrinology
A case of 3 months old Japanese boy with sporadic congenital none-autoimmune hyperthyroidism
2015
Khoo et al.
J. Clin. Endocrinol. Metab. 84: 1459-1462
A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family
1999
Karges et al.
J Endocrinol. 186: 377-85
TSH receptor mutation V509A causes familial hyperthyroidism by release of interhelical constraints between transmembrane helices TMH3 and TMH5.
2005
Kanda et al.
Endocrine 30:383-388.
Clinical significance of heterozygous carriers associated with compensated hypothyroidism in R450H, a common inactivating mutation of the thyrotropin receptor gene in Japanese.
2006
Jäschke et al.
Horm Metab Res. 43:500-4
Prolonged inappropriate TSH suppression during hypothyroidism after thyroid ablation in a patient with nonautoimmune familial hyperthyroidism.
2011
Jäschke et al.
Clin Endocrinol (Oxf) 73:815-20
Lack of in vitro constitutive activity for four previously reported TSH receptor mutations identified in patients with nonautoimmune hyperthyroidism and hot thyroid carcinomas
2010
Jäschke et al.
Cell Mol Life Sci 65:4028-4038
Preferences of transmembrane helices for cooperative amplification of G(alpha)s and G (alpha)q signaling of the thyrotropin receptor.
2008
Jäschke et al.
Endocrinology 147:1753-1760
An aromatic environment in the vicinity of serine 281 is a structural requirement for thyrotropin receptor function.
2006
Jordan et al.
J Clin Endocrinol Metab 88:1002-1005.
The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population.
2003
Jeziorowska et al.
Thyroid 16:1303-1309.
A novel mutation in the thyrotropin (thyroid-stimulating hormone) receptor gene in a case of congenital hypothyroidism.
2006
Jaeschke et al.
JCEM
A Newly Discovered TSHR Variant (L665F) Associated With Nonautoimmune Hyperthyroidism in an Austrian Family Induces Constitutive TSHR Activation by Steric Repulsion Between TM1 and TM7
2014
Horton et al.
Ann Endocrinol (Paris) 48: 92
Hereditary hyperthyroidism with diffuse non autoimmune hyperactivity due to autonomy of function and growth
1987
Holzapfel et al.
J. Clin. Endocrinol. Metab. 82: 3879-3884
Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene
1997
Holzapfel et al.
J. Clin. Endocrinol. Metab. 82: 4229-4233
Identification of constitutively activating somatic thyrotropin receptor mutations in a subset of toxic multinodular goiters
1997
Ho SC et al.
Endocrinology 142: 2760-2767
Effects of mutations involving the highly conserved S281HCC motif in the extracellular domain of the thyrotropin (TSH) receptor on TSH binding and constitutive activity.
2001