(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. |