New pathophysiological mechanisms for hyperthyroidism

Hormone Research in Paediatrics

Volumn 48, Issue 4, 1997, Pages 47-50

  Vassart, G ^a  

^a UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

Author keywords

Constitutive receptor; Germline mutation; Site directed mutagenesis; Somatic mutation; Thyroid stimulating hormone receptor

Indexed keywords

ADRENERGIC RECEPTOR; CYCLIC AMP; THYROTROPIN; THYROTROPIN RECEPTOR;

ADENOMA; AUTOSOMAL DOMINANT INHERITANCE; BENIGN TUMOR; CELL DIFFERENTIATION; CELL GROWTH; CONFERENCE PAPER; CONTROLLED STUDY; GENE MUTATION; GERM LINE; HUMAN; HUMAN CELL; HYPERTHYROIDISM; PHENOTYPE; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS; SOMATIC MUTATION; THYROID HYPERPLASIA;

ADENOMA; AMINO ACID SEQUENCE; HUMANS; HYPERTHYROIDISM; MOLECULAR SEQUENCE DATA; POINT MUTATION; RECEPTORS, THYROTROPIN; SEQUENCE DELETION; THYROID GLAND; THYROID NEOPLASMS;

EID: 0030724982     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000191313     Document Type: Article

References (15)

1. Caron MG. Lefkowitz RJ: Catecholamine receptors: structure, function, and regulation. Recent Prog Horm Res 1993;48:277-290.
2. Lefkowitz RJ: G-protein-coupled receptors. Turned on to ill effect [news: comment]. Nature 1993;365:603-604.
3. Samama P. Pei G. Costa T. Cotecchia S. Lefkowitz RJ: Negative antagonists promote an inactive conformation of the beta 2-adrcncrgic receptor. Mol Pharmacol 1994:45:390-394.
4. Vassart G. Parma J. Van Sande J. Dumont J: The thyrotropin receptor and the regulation of thyrocyte function and growth: update 1994. Endocr Rev 1994;3:77-80.
5. Thomas JS, Leclere J, Hartemann P, Duheille J, Orgiazzi J, Petersen M, Janot C, Guedenet JC: Familial hyperthyroidism without evidence of autoimmunity. Acta Endocrinol Co-penh 1982; 100:512-518.
6. 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.
7. Duprez L. Parma J. Van Sande J. Allegeier A, Ledere J. Schvartz C. Delisle M, Decoulx M, Orgiazzi J, Dumont J, Vassart G: Germline mutations in the thyrotropin receptor gene cause non autoimmune autosomal dominant hyperthyroidism. Nat Genet 1994;7:396-401.
8. Parma J, Duprez L, Van Sande J, Cochaux P, Gervy C, Mockel J, Dumont JE, Vassart G: Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature 1993;365:649-651.
9. Nagayama Y. Rapoport B: The thyrotropin receptor 25 years after its discovery: new insight after its molecular cloning. Mol Endocrinol 1992:6:145-156.
10. Porcellini A, Ciullo I, Laviola L, Amabile A, Fenzi G, Avvedimento V: Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. J Clin Endocrinol Metab 1994;79:657-661.
11. Russo D, Arturi F. Wicker R. Chazenbalk GD. Schlumbergcr M, DuVillard JA. Caillou B, Monier R. Rapoport B. Filetti S: Genetic alterations in thyroid hyperfunctioning adenomas. J Clin Endocrinol Metab 1995;80:1347-1351.
12. Russo D. Arturi F, Schlumberger M. Caillou B. Filctti S, Suarez HG: Activating mutations of the TSH receptor in differentiated thyroid carcinomas. Oncogene 1995; 11:1907-1911.
13. Tonacchera M. Van Sande J, Cetani F. Swillens S, Schvartz C, Winiszewski L, Portmann L, Dumont JE. Vassart G. Parma J: 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.
14. Kopp P, Van Sande J, Parma J, Duprez L, Zup-pinger K, Jameson JL, Vassart G: Congenital non-autoimmunc hyperthyroidism caused by a neomutation in the thyrotropin receptor gene. N Engl J Med 1995;332:150-154.
15. Van Sande J, Massart C, Constagliola S, Alleier A, Cetani F, Vassart G, Dumont JE: Specific activation of the thyrotropin receptor by trypsin. Mol Cell Endocrinol 1996; 119:161-168.