familial hyperthyroidism due to mutation of TSH receptor相关文献:
TSH receptor mutation V509A causes familial hyperthyroidism by release of interhelical constraints between transmembrane helices TMH3 and TMH5.
PMID:
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.
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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.
PMID:33180037
Genotype-Phenotype Correlation in Germline TSH Receptor Activating Mutation Associated Hyperthyroidism: A Systematic Review.
Yamichannaiah C, Memon SS, Sarathi V, Lila AR, Jadhav SR, Thadani P, Hegishte SC, Barnabas R, Karlekar M, Phadte A, Sharma A, Bandgar T.
Clin Endocrinol (Oxf). 2025 Jun 5. doi: 10.1111/cen.15288. Online ahead of print.
PMID:40470728
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.
PMID:28648513
Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations.
Hébrant A, van Staveren WC, Maenhaut C, Dumont JE, Leclère J.
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.
PMID:39987906
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.