TSH receptor mutation V509A causes familial hyperthyroidism by release of interhelical constraints between transmembrane helices TMH3 and TMH5.
A new case of familial nonautoimmune hyperthyroidism caused by the M463V mutation in the TSH receptor with anticipation of the disease across generations: a possible role of iodine supplementation.
Familial neonatal nonautoimmune hyperthyroidism due to a gain-of-function (D619G) thyrotropin-receptor mutation.
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J Pediatr Endocrinol Metab. 2020 Nov 13;34(2):267-271. doi: 10.1515/jpem-2020-0291. Print 2021 Feb 23.
Genotype-Phenotype Correlation in Germline TSH Receptor Activating Mutation Associated Hyperthyroidism: A Systematic Review.
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Clin Endocrinol (Oxf). 2025 Aug;103(2):119-128. doi: 10.1111/cen.15288. Epub 2025 Jun 5.
Inheritable and sporadic non-autoimmune hyperthyroidism.
Ferraz C, Paschke R.
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TSH receptor mutation V509A causes familial hyperthyroidism by release of interhelical constraints between transmembrane helices TMH3 and TMH5.
Karges B, Krause G, Homoki J, Debatin KM, de Roux N, Karges W.
J Endocrinol. 2005 Aug;186(2):377-85. doi: 10.1677/joe.1.06208.
Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations.
Hébrant A, van Staveren WC, Maenhaut C, Dumont JE, Leclère J.
Eur J Endocrinol. 2011 Jan;164(1):1-9. doi: 10.1530/EJE-10-0775. Epub 2010 Oct 6.
Mutations of the TSH receptor as cause of congenital hyperthyroidism.
Schwab KO, Söhlemann P, Gerlich M, Broecker M, Petrykowski W, Holzapfel HP, Paschke R, Grüters A, Derwahl M.
Exp Clin Endocrinol Diabetes. 1996;104 Suppl 4:124-8. doi: 10.1055/s-0029-1211719.
Familial Non-Autoimmune Hyperthyroidism Caused by an Extracellular Domain Variant (p.Leu267Phe) of the TSH Receptor.
Shimura K, Ichihashi Y, Abe K, Ishii T, Hasegawa T, Narumi S.
Horm Res Paediatr. 2025 Feb 21:1-9. doi: 10.1159/000544836. Online ahead of print.
Constitutively activating TSH receptor mutations as the cause of toxic thyroid adenoma, multinodular toxic goiter and autosomal dominant non autoimmune hyperthyroidism.
Paschke R.
Exp Clin Endocrinol Diabetes. 1996;104 Suppl 4:129-32. doi: 10.1055/s-0029-1211720.
Pathology of the TSH receptor.
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Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene.
Holzapfel HP, Wonerow P, von Petrykowski W, Henschen M, Scherbaum WA, Paschke R.
J Clin Endocrinol Metab. 1997 Nov;82(11):3879-84. doi: 10.1210/jcem.82.11.4378.
