Activating Mutations of the TSH Receptor [2]

Thyroid

Volumn 14, Issue 1, 2004, Pages 86-87

  Vassart, Gilbert ^a  

^a UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

THYROTROPIN RECEPTOR;

ALLELE; EPIGENETICS; GENE ACTIVATION; GENE FUNCTION; GENE MUTATION; HUMAN; LETTER; PATHOGENESIS; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; THYROID ADENOMA;

GENE EXPRESSION REGULATION; HUMANS; MUTATION; RECEPTORS, THYROTROPIN;

EID: 1442310002     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/105072504322783911     Document Type: Letter

References (9)

1. Arturi F, Scarpelli A, Coco A, Sacco R, Bruno R, Filetti S, Russo D 2003 Thyrotropin receptor mutations and thyroid hyperfunctioning adenomas ten years after their first discovery: unresolved questions. Thyroid 13:341-343.
2. Duprez L, Parma J, Van Sande J, Alleier A, Leclère J, Schvartz C, Delisle M, Decoulx M, Orgiazzi J, Dumont JE, Vassart G 1994 Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nat Genet 7:396-401.
3. Parma J, Duprez L, Van Sande J, Hermans J, Rocmans P, Van Vliet G, Costagliola S, Rodien P, Dumont JE, Vassart G 1997 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 82:2695-2701.
4. Fuhrer D, Holzapfel HP, Wonerow P, Scherbaum WA, Paschke R 1997 Somatic mutations in the thyrotropin receptor gene and not in the Gs alpha protein gene in 31 toxic thyroid nodules. J Clin Endocrinol Metab 82:3885-3891.
5. Vanvooren V, Uchino S, Duprez L, Costa MJ, Vandekerckhove J, Parma J, Vassart G, Dumont JE, Van Sande J, Noguchi S 2002 Oncogenic mutations in the thyrotropin receptor of autonomously functioning thyroid nodules in the Japanese population. Eur J Endocrinol 147:287-291.
6. Parma J, Duprez L, Van Sande J, Cochaux P, Gervy C, Mockel J, Dumont JE, Vassart G 1993 Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas. Nature 365:649-651.
7. Refetoff S, Dumont JE, Vassart G 2001 Thyroid Disorders. In: The Metabolic and Molecular Bases of Inherited Diseases, Beaudet AL, Sly WS, Valle D, Scriver CR, (eds) New York, McGraw-Hill, pp. 4029-4076.
8. Vassart G 1998 Hypo- and hyperthyroidism caused by mutations of the TSH receptor. In: G proteins, Receptors and Diseases, Spiegel AM (ed.) Totowa, NJ, Humana Press pp. 119-138.
9. http://www.thyroidmanager.org/