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(1) 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: 2577-2585.
(2) Parma J, Duprez L, Van Sande J, et al. Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature 1993; 365: 649-651.
(3) 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: 1785-1789.
(4) Porcellini A, Ciullo I, Laviola L, Amabile G, Fenzi G, Avvedimento VE. Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas: rapid identification by fine needle aspiration biopsy. J Clin Endocrinol Metab 1994; 79: 657-661.
(5) Kosugi S, Shenker A, Mori T. Constitutive activation of cyclic AMP but not phosphatidylinositol signaling caused by four mutations in the 6th transmembrane helix of the human thyrotropin receptor. FEBS Lett 1994; 356: 291-294.
(6) Tonacchera M, Van Sande J, Cetani F, et al. Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia. J Clin Endocrinol Metab 1996; 81: 547-554.
(7) Fuhrer D, Willgerodt H, Scherbaum WA, Paschke R. Identification of a new germline mutation in the thyrotropin receptor gene as a cause of familial nonautoimmune hyperthyroidism. J Clin Endocrinol Metab(in press).
(8) Holzapfel HP, Fuhrer D, Wonerow P, Weinland G, Scherbaum WA, Paschke R. Identification of constitutively activating somatic thyrotropin receptor mutations in a subset of toxic multinodular goitres. J Clin Endocrinol Metab(in press).
(9) De Roux N, Polak M, Couet J, et al. A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. J Clin Endocrinol Metab 1996; 81: 2023-2026.
(10) Russo D, Arturi F, Wicker R, et al. Genetic alterations in thyroid hyperfunctioning adenomas. J Clin Endocrinol Metab 1995; 80: 1347-1351.
(11) Kohler B, Biebermann H, Krohn HP, Dralle D, Finke R, Gruters A. A novel germline mutation in the thyrotropin receptor gene causing nonautoimmune congenital hyperthyroidism. In: Volume I (June 12-13) of program & abstracts of the 10th International Congress of Endocrinology (ICE '96), San Francisco, June 12-15, 1996. Bethesda, Md.: Endocrine Society Press, 1996: 641. abstract.
(12) Fuhrer D, Holzapfel HP, Wonerow P, Scherbaum WA, Paschke R. Screening for mutations in the thyrotropin receptor and gsp genes in toxic thyroid nodules. J Clin Endocrinol(in press).
(13) Parma J, Duprez L, Van Sande J, et al. Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs genes as a cause of toxic thyroid adenomas. J Clin Endocrinol Metab 1997; 82: 2695-2701.
(14) Esapa C, Betts P, Kendall-Taylor P, Harris PE. A novel TSH receptor mutation in an infant with thyrotoxicosis. J Endocrinol Invest 1996; 19: Suppl 6: 71. abstract.
(15) Clifton-Bligh RJ, Gregory JW, Ludgate R, et al. Two novel mutations in the thyrotropin(TSH) receptor gene in a child with resistance to TSH. J Clin Endocrinol Metab 1996; 82: 1094-1100.
(16) Russo D, Belfiore A, Tumino S, et al. A thyroid follicular cancer presenting as a hot nodule and hyperfunctioning because of an activating mutation of the TSH receptor. J Endocrinol Invest 1996; 19: Suppl 6: 1-1. abstract.
(17) Kopp P, van Sande J, Parma J, et al. Congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. N Engl J Med 1995; 332: 150-154.
(18) Biebermann H, Krude H, Thiede C, Kotulla D, Gruters A. Sporadic congenital hypothyroidism due to compound heterozygosity for two mutations of the coding sequence of the thyrotropin receptor gene. In: Volume I (June 12-13) of program & abstracts of the 10th International Congress of Endocrinology (ICE '96), San Francisco, June 12-15, 1996. Bethesda, Md.: Endocrine Society Press, 1996: 643. abstract.
(19) Russo D, Arturi F, Schlumberger M, et al. Activating mutations of the TSH receptor in differentiated thyroid carcinomas. Oncogene 1995; 11: 1907-1911.
(20) Spambalg D, Sharifi N, Elisi R, Gross JL, Medeiros-Neto G, Fagin JA. Structural studies of the thyrotropin receptor and Gs alpha in human thyroid cancers: low prevalence of mutations predicts infrequent involvement in malignant transformation. J Clin Endocrinol Metab 1996; 81: 3898-3901.
(21) Paschke R, Van Sande J, Parma J, Vassart G. The TSH receptor and thyroid disease. Baillieres Clin Endocrinol Metab 1996; 10: 9-27.
(22) Paschke R, Vassart G, Ludgate M. Current evidence for and against the TSH receptor being the common antigen in Graves' disease and thyroid associated ophthalmopathy. Clin Endocrinol(Oxf) 1995; 42: 565-569.
(23) Laugwitz K-L, Allgeier A, Offermanns S, et al. The human thyrotropin receptor: a heptahelical receptor capable of stimulating members of all four G protein families. Proc Natl Acad Sci U S A 1996; 93: 116-120.
(24) Dumont JE, Maenhaut C, Pirson I, Baptist M, Roger PP. Growth factors controlling the thyroid gland. Baillieres Clin Endocrinol Metab 1991; 5: 727-754.
(25) Damante G, DiLauro R. Thyroid-specific gene expression. Biochim Biophys Acta 1994; 1218: 255-266.
(26) McKenzie JM, Zakarija M. The clinical use of thyrotropin receptor antibody measurements. J Clin Endocrinol Metab 1989; 69: 1093-1096.
(27) Ledent C, Dumont JE, Vassart G, Parmentier M. Thyroid expression of an A2 adenosine receptor transgene induces thyroid hyperplasia and hyperthyroidism. EMBO J 1992; 11: 537-542.
(28) Hamburger JI. Evolution of toxicity in solitary nontoxic autonomously functioning thyroid nodules. J Clin Endocrinol Metab 1980; 50: 1089-1093.
(29) Laurberg P, Pedersen KM, Vestergaard H, Sigurdsson G. High incidence of multinodular toxic goitre in the elderly population in a low iodine intake area vs. high incidence of Graves' disease in the young in a high iodine intake area: comparative surveys of thyrotoxicosis epidemiology in East-Jutland Denmark and Iceland. J Intern Med 1991; 229: 415-420.
(30) Sandrock D, Olbricht T, Emrich D, Benker G, Reinwein D. Long-term follow-up in patients with autonomous thyroid adenoma. Acta Endocrinol(Copenh) 1993; 128: 51-55.
(31) Usadel KH, Paschke R, Teuber J, Schwedes U. Hetero-transplantation of autoimmune human thyroid to nude mice as a tool for in vivo autoimmune research. In: Pinchera A, Ingbar SH, McKenzie JM, Fenzi GF, eds. Thyroid autoimmunity. New York: Plenum Press, 1987: 207-10.
(32) Lyons J, Landis CA, Harsh G, et al. Two G protein oncogenes in human endocrine tumors. Science 1990; 249: 655-659.
(33) Spiegel AM, Weinstein LS, Shenker A. Abnormalities in G protein-coupled signal transduction pathways in human disease. J Clin Invest 1993; 92: 1119-1125.
(34) Kjelsberg MA, Cotecchia S, Ostrowski J, Caron MG, Lefkowitz RJ. Constitutive activation of the 1B-adrenergic receptor by all amino acid substitutions at a single site: evidence for a region which constrains receptor activation. J Biol Chem 1992; 267: 1430-1433.
(35) Shenker A, Laue L, Kosugi S, Merendino JJ Jr, Minegishi T, Cutler GB Jr. A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 1993; 365: 652-654.
(36) Schipani E, Langman CB, Parfitt AM, et al. Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. N Engl J Med 1996; 335: 708-714.
(37) Gromoll J, Simoni M, Nieschlag E. An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man. J Clin Endocrinol Metab 1996; 81: 1367-1370.
(38) Takeshita A, Nagayama Y, Yokoyama N, et al. Rarity of oncogenic mutations in the thyrotropin receptor of autonomously functioning thyroid nodules in Japan. J Clin Endocrinol Metab 1995; 80: 2607-2611.
(39) Parma J, Van Sande J, Swillens S, Tonacchera M, Dumont JE, 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: 725-733.
(40) Russo D, Arturi F, Suarez HG, et al. Thyrotropin receptor gene alterations in thyroid hyperfunctioning adenomas. J Clin Endocrinol Metab 1996; 81: 1548-1551.
(41) Suarez HG, du Villard JA, Caillou B, Schlumberger M, Parmentier C, Monier R. Gsp mutations in human thyroid tumours. Oncogene 1991; 6: 677-679.
(42) Yoshimoto K, Iwahana H, Fukuda A, Sano T, Itakura M. Rare mutations of the Gs alpha subunit gene in human endocrine tumors: mutation detection by polymerase chain reaction-primer-introduced restriction analysis. Cancer 1993; 72: 1386-1393.
(43) Michiels FM, Caillou B, Talbot M, et al. Oncogenic potential of guanine nucleotide stimulatory factor alpha subunit in thyroid glands of transgenic mice. Proc Natl Acad Sci U S A 1994; 91: 10488-10492.
(44) Thomas JS, Leclere J, Hartemann P, et al. Familial hyperthyroidism without evidence of autoimmunity. Acta Endocrinol(Copenh) 1982; 100: 512-518.
(45) Duprez L, Parma J, Van Sande J, et al. Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nat Genet 1994; 7: 396-401.
(46) Schwab KO, Sohlemann P, Gerlich M, et al. Mutations of the TSH receptor as a cause of congenital hyperthyroidism. Exp Clin Endocrinol Diabetes 1996; 104: Suppl 4: 124-128.
(47) Holzapfel H-P, Wonerow P, 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(in press).
(48) Takamatsu J, Nishikawa M, Horimoto M, Ohsawa N. Familial unresponsiveness to thyrotropin by autosomal recessive inheritance. J Clin Endocrinol Metab 1993; 77: 1569-1573.
(49) Codaccioni JL, Carayon P, Michel-Bechet M, Foucault F, Lefort G, Pierron H. Congenital hypothyroidism associated with thyrotropin unresponsiveness and thyroid cell membrane alterations. J Clin Endocrinol Metab 1980; 50: 932-937.
(50) Medeiros-Neto GA, Knobel M, Bronstein MD, Simonetti J, Filho FF, Mattar E. Impaired cyclic-AMP response to thyrotropin in congenital hypothyroidism with thyroglobulin deficiency. Acta Endocrinol(Copenh) 1979; 92: 62-72.
(51) Stein SA, Oates EL, Hall CR, et al. Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse. Mol Endocrinol 1994; 8: 129-138.
(52) Sunthornthepvarakul T, Gottschalk ME, Hayashi Y, Refetoff S. Resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. N Engl J Med 1995; 332: 155-160.
(53) Asteria C, Persani L, Romoli R, Beck-Peccoz P. Resistance to thyrotropin action resulting from inactivating mutation of thyrotropin receptor(TSH-R) gene. J Endocrinol Invest 1996; 19: Suppl 6: 26-26. abstract.
(54) DeRoux N, Misrahi M, Brauner R, et al. Four families with loss of function mutations of the thyrotropin receptor. J Clin Endocrinol Metab 1996; 81: 4229-4235.
(55) Takeshita A, Nagayama Y, Yamashita S, et al. Sequence analysis of the thyrotropin(TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness. Thyroid 1994; 4: 255-259.
(56) Rees Smith B, McLachlan SM, Furmaniak J. Autoantibodies to the thyrotropin receptor. Endocr Rev 1988; 9: 106-121.
(57) Ludgate M, Vassart G. The molecular genetics of three thyroid autoantigens: thyroglobulin, thyroid peroxidase and the thyrotropin receptor. Autoimmunity 1990; 7: 201-211.
(58) Kohn LD, Shimura H, Shimura Y, et al. The thyrotropin receptor. Vitam Horm 1995; 50: 287-384.
(59) McLachlan S, Rapoport B. Recombinant thyroid autoantigens: the keys to the pathogenesis of autoimmune thyroid disease. J Intern Med 1993; 234: 347-359.

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