참고문헌
- Sperling MA. Pediatric endocrinology. 2nd ed. Philadelphia : Saunders 2002:161-85
- Parma J, Duprez L, Van Sande J, Cochaux P, Gervy C, Mockel J, et al. Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature 1993;365:649-51 https://doi.org/10.1038/365649a0
-
Fuhrer D, Wonerow P, Willgerodt H, Paschke R. Identification of a new thyrotropin receptor germline mutation
$(Leu^{629}Phe)$ in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism. J Clin Endocrinol Metab 1997;82:4234-8. https://doi.org/10.1210/jc.82.12.4234 - Thomas JS, Leclere J, Hartemann P, Duheille J, Orgiazzi J, Petersen M, et al. Familial hyperthyroidism without evidence of autoimmunity. Acta Endocrinol(Copenh) 1982;100:512-8
- Duprez L, Parma J, Van Sande J, Allgeier A, Leclere J, Schvartz C, et al. Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nat Genet 1994;7:396-401. https://doi.org/10.1038/ng0794-396
- Kopp P, van Sande J, Parma J, Duprez L, Gerber H, Joss E, et al. Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. N Engl J Med 1995;332:150-4 https://doi.org/10.1056/NEJM199501193320304
- De Roux N, Polak M, Couet J, Leger J, Czernichow P, Milgrom E, et al. A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. J Clin Endocrinol Metab 1996;81:2023-6 https://doi.org/10.1210/jc.81.6.2023
- Schwab KO, Gerlich M, Broecker M, Sohlemann P, Derwahl M, Lohse MJ. Constitutively active germline mutation of the thyrotropin receptor gene as a cause of congenital hyperthyroidism. J Pediatr 1997;131:899-904 https://doi.org/10.1016/S0022-3476(97)70040-4
- Holzapfel HP, Wonerow P, von Petrykowski W, Henschen M, Scherbaum WA, Paschke R. Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene. J Clin Endocrinol Metab 1997;82:3879-84 https://doi.org/10.1210/jc.82.11.3879
- Kopp P, Jameson JL, Roe TF. Congenital nonautoimmune hyperthyroidism in a nonidentical twin caused by a sporadic germline mutation in the thyrotropin receptor gene. Thyroid 1997;7:765-70 https://doi.org/10.1089/thy.1997.7.765
- Alberti L, Proverbio MC, Costagliola S, Weber G, Beck-Peccoz P, Chiumello G, et al. A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism. Eur J Endocrinol 2001;145:249-54 https://doi.org/10.1530/eje.0.1450249
- Biebermann H, Schoneberg T, Hess C, Germak J, Gudermann T, Gruters A. The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism. J Clin Endocrinol Metab 2001;86:4429-33 https://doi.org/10.1210/jc.86.9.4429
- Kopp P. The TSH receptor and its role in thyroid disease. Cell Mol Life Sci 2001;58:1301-22 https://doi.org/10.1007/PL00000941
- Van Sande J, Parma J, Tonacchera M, Swillens S, Dumont J, Vassart G. Somatic and germline mutations of the TSH receptor gene in thyroid diseases. J Clin Endocrinol Metab 1995;80:2577-85 https://doi.org/10.1210/jc.80.9.2577
- Corvilain B, Van Sande J, Dumont JE, Vassart G. Somatic and germline mutations of the TSH receptor and thyroid diseases. Clin Endocrinol(Oxf) 2001;55:143-58 https://doi.org/10.1046/j.1365-2265.2001.01365.x
- Paschke R, Tonacchera M, Van Sande J, Parma J, Vassart G. Identification and functional characterization of two new somatic mutations causing constitutive activation of the thyrotropin receptor in hyperfunctioning autonomous adenomas of the thyroid. J Clin Endocrinol Metab 1994;79:1785-9 https://doi.org/10.1210/jc.79.6.1785
- Parma J, Duprez L, Van Sande J, Hermans J, Rocmans P, Van Vliet G, et al. Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas. J Clin Endocrinol Metab 1997;82:2695-701 https://doi.org/10.1210/jc.82.8.2695
- Parma J, Van Sande J, Swillens S, Tonacchera M, Dumont J, Vassart G. 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-Ca2+ cascades. Mol Endocrinol 1995;9:725-33 https://doi.org/10.1210/me.9.6.725