TSH Receptor Mutation References
Stein et al.
Mol. Endocrinol. 8: 129-138
Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse.
1994
Sriphrapradang et al.
J Clin Endocrinol Metab 96:E1001-E1006.
The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.
2011
Spambalg et al.
J. Clin. Endocrinol. Metab. 81: 3898-3901
Structural studies of the thyrotropin receptor and Gs alpha in human thyroid cancers: low prevalence of mutations predicts infrequent involvement in malignant transformation.
1996
Smits et al.
Mol. Endocrinol. 16: 722-735
Lysine 183 and glutamic acid 157 of the TSH receptor: two interacting residues with a key role in determining specificity toward TSH and human CG.
2002
Schwab, Karl Otfried, et al.
The Journal of Pediatrics
Autonomous thyroid adenoma: only an adulthood disease?
2009
Schwab et al.
J. Pediatr. 131: 899-904
Constitutively active germline mutation of the thyrotropin receptor gene as a cause of congenital hyperthyroidism
1997
Schaarschmidt et al
Horm Metab Res
Late Manifestation of Subclinical Hyperthyroidism
After Goitrogenesis in an Index Patient with a N670S
TSH Receptor Germline Mutation Masquerading as
TSH Receptor Antibody Negative Graves’ Disease
2012
Sawicka et al
Thyroid
Activating mutation M453V in receptor TSHR as a cause familial hyperthyroidism
2019
Sancak et al.
Horm Metab Res. 43:562-8
High Prevalence of TSHR/Gsalpha Mutation-negative Clonal Hot Thyroid Nodules (HNs) in a Turkish Cohort
2011
Russo et al.
J. Clin. Endocrinol. Metab. 81: 1548-1551
Thyrotropin receptor gene alterations in thyroid hyperfunctioning adenomas
1996
Russo et al.
J. Clin. Endocrinol. Metab. 80: 1347-1351
Genetic alterations in thyroid hyperfunctioning adenomas
1995
Russo et al.
J. Clin. Endocrinol. Metab. 85: 4238-4242
A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH
2000
Russo et al.
Oncogene 11: 1907-1911
Activating mutations of the TSH receptor in differentiated thyroid carcinomas.
1995
Russo et al.
J. Clin. Endocrinol. Metab. 82: 3906-3908
Detection of an activating mutation of the thyrotropin receptor in a case of an autonomously hyperfunctioning thyroid insular carcinoma
1997
Russo et al.
Thyroid 9: 13-17
A Val 677 activating mutation of the thyrotropin receptor in a Hurthle cell thyroid carcinoma associated with thyrotoxicosis
1999
Rodien et al.
N. Engl. J. Med. Vol 339: 1823-1826
Familial Gestational Hyperthroidism Caused by a Mutant Thyrotropin Receptor Hypersensitive to human Chorionic Gonadotropin
1998
Roberts et al.
Journal of Pediatric Endocrinology and Metabolism
Novel germline mutation (Leu512Met) in the thyrotropin receptor gene (TSHR) leading to sporadic non-autoimmune hyperthyroidism.
2017
Ringkananont et al.
Mol Endocrinol. 20: 893-903
Repulsive separation of the cytoplasmic ends of transmembrane helices 3 and 6 is linked to receptor activation in a novel thyrotropin receptor mutant (M626I).
2006
Richter-Unruh et al.
Thyroid 14:971-974.
Congenital primary hypothyroidism in a turkish family caused by a homozygous nonsense mutation (R609X) in the thyrotropin receptor gene.
2004
Qiu et al.
Endocrine Research
Two novel TSHR gene mutations (p. R528C and c. 392+ 4del4) associated with congenital hypothyroidism
2016
Porcellini et al.
J. Clin. Endocrinol. Metab. 79: 657-661
Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. Rapid identification by fine needle aspiration biopsy
1994
Porcellini et al.
Oncogene 11: 1089-1093
Somatic mutations in the VI transmembrane segment of the thyrotropin receptor constitutively activate cAMP signalling in thyroid hyperfunctioning adenomas
1995
Pohlenz et al.
Acta Paediatr. 95: 1685-7
Subclinical hyperthyroidism due to a thyrotropin receptor (TSHR) gene mutation (S505R).
2006
Paschke et al.
J. Clin. Endocrinol. Metab. 79: 1785-1789
Identification and functional characterization of two new somatic mutations causing constitutive activation of the thyrotropin receptor in hyperfunctioning autonomous adenomas of the thyroid
1994
Parma et al.
Nature 365: 649-651
Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas
1993
Parma et al.
Mol. Endocrinol. 9: 725-733
Somatic mutations causing constitutive activity of the thyrotropin receptor are the major cause of hyperfunctioning thyroid adenomas: identification of additional mutations activating both the cyclic adenosine 3',5'-monophosphate and inositol phosphate-Ca
1995
Parma et al.
J. Clin. Endocrinol. Metab. 82: 2695-2701
Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas
1997
Park et al.
Clin Endocrinol (Oxf) 60:220-227.
Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor.
2004
Park et al.
Scientific Reports
Concurrent TSHR mutations and DIO2 T92A polymorphism result in abnormal thyroid hormone metabolism
2018
Palos-Paz et al.
Eur J Endocrinol. 159: 623-31
Prevalence of mutations in TSHR, GNAS, PRKAR1A and RAS genes in a large series of toxic thyroid adenomas from Galicia, an iodine-deficient area in NW Spain.
2008
Olivier-Petit et al.
2017
Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation
2017
Okazaki et al. 2020
AACE Case Reports
A CASE OF FAMILIAL NONAUTOIMMUNE
HYPERTHYROIDISM DURING PREGNANCY
2020
Nwosu et al.
Thyroid. 16: 505-12
A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism.
2006
Nogueira et al.
Thyroid 9: 1063-1068
Thyrotropin receptor mutations in hyperfunctioning thyroid adenomas from Brazil
1999
Nishihara, Eijun, et al.
Thyroid
Prevalence of thyrotropin receptor germline mutations and clinical courses in 89 hyperthyroid patients with diffuse goiter and negative anti-thyrotropin receptor antibodies.
2014
Nishihara et al.
Endocr J. 53: 735-40
Sporadic congenital hyperthyroidism due to a germline mutation in the thyrotropin receptor gene (Leu 512 Gln) in a Japanese patient.
2006
Nishihara et al.
Endocr J. 54: 927-34
A novel thyrotropin receptor germline mutation (Asp617Tyr) causing hereditary hyperthyroidism.
2007
Nishihara et al.
Thyroid. 20:1307-14
Subclinical nonautoimmune hyperthyroidism in a family segregates with a thyrotropin receptor mutation with weakly increased constitutive activity.
2010
Nishihara et al.
Endocr J. 56:791-8
Prevalence of TSH receptor and Gsalpha mutations in 45 autonomously functioning thyroid nodules in Japan.
2009
Nishihara et al.
Endocrinol Invest.
Deletion of thyrotropin receptor residue Asp403 in a hyperfunctioning thyroid nodule provides insight into the role of the ectodomain in ligand-induced receptor activation
2012
Nishihara et al.
AACE Clinical Case Reports
LONG-TERM FOLLOW-UP OF A PATIENT WITH
SPORADIC NONAUTOIMMUNE HYPERTHYROIDISM DUE
TO A THYROTROPIN-RECEPTOR MUTATION (D619G)
2018
Niepomniszcze et al.
Thyroid 16:497-503
Follicular carcinoma presenting as autonomous functioning thyroid nodule and containing an activating mutation of the TSH receptor (T620I) and a mutation of the Ki-RAS (G12C) genes.
2006
Nicoletti et al.
J Clin Endocrinol Metab 94:4187-4194.
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism.
2009
Neumann et al.
Mol. Endocrinol. 15: 1294-1305
A free carboxylate oxygen in the side chain of position 674 in transmembrane domain 7 is necessary for TSH receptor activation.
2001
Neumann et al.
Mol Endocrinol. 15:1294-305.
A free carboxylate oxygen in the side chain of position 674 in transmembrane domain 7 is necessary for TSH receptor activation.
2001
Neumann et al.
Eur J Endocrinol 152:625-634
Interactions between the extracellular domain and the extracellular loops as well as the 6th transmembrane domain are necessary for TSH receptor activation.
2005
Narumi et al.
J Clin Endocrinol Metab 94:1317-1323.
TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study.
2009
Narumi et al.
J Clin Endocrinol Metab 96:1340-1345.
Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.
2011
Nanba, Kazutaka, et al.
Endocrine journal
Two rare TSH receptor amino acid substitutions in toxic thyroid adenomas
2012
Nakamura et al.
Pediatric research
A Japanese family with nonautoimmune hyperthyroidism caused by a novel heterozygous thyrotropin receptor gene mutation
2014