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.
Taha D, Adhikari A, Flore LA.
J Pediatr Endocrinol Metab. 2020 Nov 13;34(2):267-271. doi: 10.1515/jpem-2020-0291. Print 2021 Feb 23.
Inheritable and sporadic non-autoimmune hyperthyroidism.
Ferraz C, Paschke R.
Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):265-275. doi: 10.1016/j.beem.2017.04.005. Epub 2017 Apr 22.
Pathology of the TSH receptor.
Duprez L, Parma J, Van Sande J, Rodien P, Sabine C, Abramowicz M, Dumont JE, Vassart G.
J Pediatr Endocrinol Metab. 1999 Apr;12 Suppl 1:295-302.
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.
Activating mutations of TSH receptor.
Rodien P, Ho SC, Vlaeminck V, Vassart G, Costagliola S.
Ann Endocrinol (Paris). 2003 Feb;64(1):12-6.
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.
Fetal and neonatal hyperthyroidism.
Zimmerman D.
Thyroid. 1999 Jul;9(7):727-33. doi: 10.1089/thy.1999.9.727.
Pediatric toxic polycystic thyroid.
Belle JM, Vasilottos N, Nebesio TD, James BC.
J Pediatr Endocrinol Metab. 2017 Jul 26;30(7):781-784. doi: 10.1515/jpem-2016-0443.
Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant.
Suput Omladic J, Pajek M, Groselj U, Trebusak Podkrajsek K, Avbelj Stefanija M, Zerjav Tansek M, Kotnik P, Battelino T, Smigoc Schweiger D.
Medicina (Kaunas). 2021 Feb 25;57(3):196. doi: 10.3390/medicina57030196.
An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial nonautoimmune hyperthyroidism.
Shin JH, Seo GH, Oh SH, Chung WY, Kim HY, Kim YM, Bae MH, Park KH, Kwak MJ.
Ann Pediatr Endocrinol Metab. 2020 Dec;25(4):282-286. doi: 10.6065/apem.2040076.038. Epub 2020 Dec 31.
