-
1
-
-
0029118115
-
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure
-
Aittomaki, K., Lucena, J. L. D., Pakarinen, P., Sistonen, P., Tapanainen, J., Gromoll, J., Kaskikari, R., Sankila, H. M., Lehvaslaiho, H., Engel, A. R., Nieschlag, E., Huhtaniemi, I. & de la Chapelle, A. (1995) Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure, Cell 82, 959-968.
-
(1995)
Cell
, vol.82
, pp. 959-968
-
-
Aittomaki, K.1
Lucena, J.L.D.2
Pakarinen, P.3
Sistonen, P.4
Tapanainen, J.5
Gromoll, J.6
Kaskikari, R.7
Sankila, H.M.8
Lehvaslaiho, H.9
Engel, A.R.10
Nieschlag, E.11
Huhtaniemi, I.12
De La Chapelle, A.13
-
2
-
-
0028088933
-
A genomic point mutation in the extracellular domain of the thyrotropin receptor in patients with Graves' ophthalmopathy
-
Bahan, R. S., Dutton, C. M., Heufelder, A. E. & Sarkar, G. (1994) A genomic point mutation in the extracellular domain of the thyrotropin receptor in patients with Graves' ophthalmopathy, J. Clin. Endocrinol. Metab. 78, 256-260.
-
(1994)
J. Clin. Endocrinol. Metab.
, vol.78
, pp. 256-260
-
-
Bahan, R.S.1
Dutton, C.M.2
Heufelder, A.E.3
Sarkar, G.4
-
3
-
-
0027772443
-
A heritable point mutation in an extracellular domain of the thyrotropin receptor involved in the interaction with Graves' immunoglobulins
-
Bohr, U. R., Behr, M. & Loos, U. (1993) A heritable point mutation in an extracellular domain of the thyrotropin receptor involved in the interaction with Graves' immunoglobulins, Biochim. Biophys. Acta 1216, 504-508.
-
(1993)
Biochim. Biophys. Acta
, vol.1216
, pp. 504-508
-
-
Bohr, U.R.1
Behr, M.2
Loos, U.3
-
4
-
-
0025608144
-
Functional analysis of the cytoplasmic domains of the human thyrotropin receptor by site directed mutagenesis
-
Chazenbalk, G. D., Nagayama, Y., Russo, D., Wadsworth, H. L. & Rapoport, B. (1990) Functional analysis of the cytoplasmic domains of the human thyrotropin receptor by site directed mutagenesis. J. Biol. Chem. 265, 20 970-20 975.
-
(1990)
J. Biol. Chem.
, vol.265
, pp. 20970-20975
-
-
Chazenbalk, G.D.1
Nagayama, Y.2
Russo, D.3
Wadsworth, H.L.4
Rapoport, B.5
-
5
-
-
0029152062
-
Normal function in vivo of a homozygotic polymorphism in the human thyrotropin receptor
-
Cuddihy, R. M., Bryant, W. P. & Bahn, R. S. (1995) Normal function in vivo of a homozygotic polymorphism in the human thyrotropin receptor. Thyroid 5, 255-257.
-
(1995)
Thyroid
, vol.5
, pp. 255-257
-
-
Cuddihy, R.M.1
Bryant, W.P.2
Bahn, R.S.3
-
6
-
-
0028240982
-
Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism
-
Duprez, L., Parma, J., Van Sande, J., Allegeier, A., Leclere, J., Schvartz, C., Delisle, M. J., Decoulx, M., Orgiazzi, J., Dumont, J. E. & Vassart, G. (1994) Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism, Nat. Genet. 7, 396-401.
-
(1994)
Nat. Genet.
, vol.7
, pp. 396-401
-
-
Duprez, L.1
Parma, J.2
Van Sande, J.3
Allegeier, A.4
Leclere, J.5
Schvartz, C.6
Delisle, M.J.7
Decoulx, M.8
Orgiazzi, J.9
Dumont, J.E.10
Vassart, G.11
-
7
-
-
0029054551
-
Functional analysis of a variant of the thyrotropin receptor gene in a family with Graves' disease
-
Gustavsson, B., Eklof, C., Westermark, K., Westermark, B. & Heldin, N. E. (1995) Functional analysis of a variant of the thyrotropin receptor gene in a family with Graves' disease, Mol. Cell Endocrinol. 111, 167-173.
-
(1995)
Mol. Cell Endocrinol.
, vol.111
, pp. 167-173
-
-
Gustavsson, B.1
Eklof, C.2
Westermark, K.3
Westermark, B.4
Heldin, N.E.5
-
8
-
-
0025876149
-
A somatic point mutation in a putative ligand binding domain of the thyrotropin receptor in a patient with autoimmune hyperthyroidism
-
Heldin, N. E., Gustavsson, B., Westermark, K. & Westermark, B. (1991) A somatic point mutation in a putative ligand binding domain of the thyrotropin receptor in a patient with autoimmune hyperthyroidism, J. Clin. Endocrinol. Metab. 73, 1374-1376.
-
(1991)
J. Clin. Endocrinol. Metab.
, vol.73
, pp. 1374-1376
-
-
Heldin, N.E.1
Gustavsson, B.2
Westermark, K.3
Westermark, B.4
-
9
-
-
0028004314
-
Monoclonal antibodies that recognize the native human thyrotropin receptor
-
Johnstone, A. P., Cridland, J. C., DaCosta, C. R., Harfst, E. & Shepherd, P. S. (1994) Monoclonal antibodies that recognize the native human thyrotropin receptor, Mol. Cell. Endocrinol. 105, R1-R9.
-
(1994)
Mol. Cell. Endocrinol.
, vol.105
-
-
Johnstone, A.P.1
Cridland, J.C.2
DaCosta, C.R.3
Harfst, E.4
Shepherd, P.S.5
-
10
-
-
0024385411
-
Ectopic expression of the serotonin 1c receptor and the triggering of malignant transformation
-
Julius, D., Livelli, T. J., Jessel, T. M. & Axel, R. (1989) Ectopic expression of the serotonin 1c receptor and the triggering of malignant transformation, Science 244, 1057-1062.
-
(1989)
Science
, vol.244
, pp. 1057-1062
-
-
Julius, D.1
Livelli, T.J.2
Jessel, T.M.3
Axel, R.4
-
11
-
-
0028835899
-
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene
-
Kremer, H., Kraaij, R., Toledo, S. P A., Post, M., Fridman, J. B., Hayashida, C. Y., van Reen, M., Milgrom, E., Ropers, H. H., Mariman, H., Themmen, A. P. N. & Brunner, H. G. (1995) Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene, Nat. Genet. 9, 160-164.
-
(1995)
Nat. Genet.
, vol.9
, pp. 160-164
-
-
Kremer, H.1
Kraaij, R.2
Toledo, S.P.A.3
Post, M.4
Fridman, J.B.5
Hayashida, C.Y.6
Van Reen, M.7
Milgrom, E.8
Ropers, H.H.9
Mariman, H.10
Themmen, A.P.N.11
Brunner, H.G.12
-
12
-
-
0029097929
-
Enhanced cAMP accumulation by the human thyrotropin receptor variant with the [Thr52]thyrotropin receptor substitution in the extracellular domain
-
Loos, U., Hagner, S., Bohr, U. R., Bogatkewitsch, G. S., Jakobs, K. H. & Van Koppen, C. J. (1995) Enhanced cAMP accumulation by the human thyrotropin receptor variant with the [Thr52]thyrotropin receptor substitution in the extracellular domain, Eur. J. Biochem. 232, 62-65.
-
(1995)
Eur. J. Biochem.
, vol.232
, pp. 62-65
-
-
Loos, U.1
Hagner, S.2
Bohr, U.R.3
Bogatkewitsch, G.S.4
Jakobs, K.H.5
Van Koppen, C.J.6
-
13
-
-
0021770787
-
High level expression of a chloramphenicol acetyltransferase gene by DEAE-Dextran mediated DNA transfection coupled with a dimethylsulfoxide or glycerol shock treatment
-
Lopata, M. A., Cleveland, D. W. & Solmer-Wess, B. (1984) High level expression of a chloramphenicol acetyltransferase gene by DEAE-Dextran mediated DNA transfection coupled with a dimethylsulfoxide or glycerol shock treatment, Nucleic Acids Res. 12, 5707-5711.
-
(1984)
Nucleic Acids Res.
, vol.12
, pp. 5707-5711
-
-
Lopata, M.A.1
Cleveland, D.W.2
Solmer-Wess, B.3
-
14
-
-
0027369421
-
Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas
-
Parma, J., Duprez, L., Van Sande, J., Cochaux, P., Gervy, C., Mockel, J., Dumont, J. H. & Vassart, G. (1993) Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas, Nature 365, 649-651.
-
(1993)
Nature
, vol.365
, pp. 649-651
-
-
Parma, J.1
Duprez, L.2
Van Sande, J.3
Cochaux, P.4
Gervy, C.5
Mockel, J.6
Dumont, J.H.7
Vassart, G.8
-
15
-
-
0029044073
-
2+ cascades
-
2+ cascades, Mol. Endocrinol. 9, 725-733.
-
(1995)
Mol. Endocrinol.
, vol.9
, pp. 725-733
-
-
Parma, J.1
Van Sande, J.2
Swillens, S.3
Tonacchera, M.4
Dumont, J.E.5
Vassart, G.6
-
16
-
-
0027372340
-
A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty
-
Shenker, A., Laue, H., Kosugi, S., Merendino, J. J., Minegishi, T. & Cutler, G. B. (1993) A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty, Nature 365, 652-654.
-
(1993)
Nature
, vol.365
, pp. 652-654
-
-
Shenker, A.1
Laue, H.2
Kosugi, S.3
Merendino, J.J.4
Minegishi, T.5
Cutler, G.B.6
-
17
-
-
0028275399
-
Polymorphism of a variant human thyrotropin receptor gene
-
Sunthornthepvarakul, T., Hayashi, Y. & Refetotf, S. (1994) Polymorphism of a variant human thyrotropin receptor gene, Thyroid 4, 147-149.
-
(1994)
Thyroid
, vol.4
, pp. 147-149
-
-
Sunthornthepvarakul, T.1
Hayashi, Y.2
Refetotf, S.3
-
18
-
-
0028888593
-
Resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene
-
Sunthornthepvarakuln T., Gottschalk, M. E., Hayashi, Y. & Refetoff, S. (1995) Resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene, N. Engl. J. Med. 332, 155-160.
-
(1995)
N. Engl. J. Med.
, vol.332
, pp. 155-160
-
-
Sunthornthepvarakuln, T.1
Gottschalk, M.E.2
Hayashi, Y.3
Refetoff, S.4
-
19
-
-
0029012098
-
Interpretation of binding curves obtained with high receptor concentrations: Practical aid for computer analysis
-
Swillens, S. (1995) Interpretation of binding curves obtained with high receptor concentrations: practical aid for computer analysis. Mol. Pharmacol. 47, 1197-1203.
-
(1995)
Mol. Pharmacol.
, vol.47
, pp. 1197-1203
-
-
Swillens, S.1
-
20
-
-
0024596736
-
Selective inactivation of the exonuclease activity of bacteriophage T7 DNA polymerase by in vitro mutagenesis
-
Tabor, S. & Richardson, C. C. (1989) Selective inactivation of the exonuclease activity of bacteriophage T7 DNA polymerase by in vitro mutagenesis, J. Biol. Chem. 264, 6447-6458.
-
(1989)
J. Biol. Chem.
, vol.264
, pp. 6447-6458
-
-
Tabor, S.1
Richardson, C.C.2
-
21
-
-
9044240477
-
Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic hyperplasia
-
Tonacchera, M., Van Sande, J., Cetani, F., Swillens, S., Schvartz, C., Winiszewski, P., Portmann, L., Dumont, J. E., Vassart, G. & Parma, J. (1996) Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic hyperplasia, J. Clin. Endocrinol. Metab. 81, 2, 547-552.
-
(1996)
J. Clin. Endocrinol. Metab.
, vol.81
, Issue.2
, pp. 547-552
-
-
Tonacchera, M.1
Van Sande, J.2
Cetani, F.3
Swillens, S.4
Schvartz, C.5
Winiszewski, P.6
Portmann, L.7
Dumont, J.E.8
Vassart, G.9
Parma, J.10
-
22
-
-
0028916473
-
In Chinese hamster ovary K1 cells dog and human thyrotropin receptors activate both the cAMP and the phosphatidylinositol 4.5-bisphosphate cascades in the presence of thyrotropin and the cAMP cascade in its absence
-
Van Sande, J., Swillens, S., Gerard, C., Allgeier, A., Massart, C., Vassart, G. & Dumont, J. E. (1995a) In Chinese hamster ovary K1 cells dog and human thyrotropin receptors activate both the cAMP and the phosphatidylinositol 4.5-bisphosphate cascades in the presence of thyrotropin and the cAMP cascade in its absence, Eur. J. Biochem. 229, 138-343.
-
(1995)
Eur. J. Biochem.
, vol.229
, pp. 138-343
-
-
Van Sande, J.1
Swillens, S.2
Gerard, C.3
Allgeier, A.4
Massart, C.5
Vassart, G.6
Dumont, J.E.7
-
23
-
-
0029360448
-
Somatic and germline mutations of the thyrotropin receptor gene in thyroid diseases
-
Van Sande, J., Parma, J., Tonacchera, M., Swillens, S., Dumont, J. E. & Vassart, G. (1995b) Somatic and germline mutations of the thyrotropin receptor gene in thyroid diseases, J. Clin. Endocrinol. Metab, 80, 2577-2585.
-
(1995)
J. Clin. Endocrinol. Metab
, vol.80
, pp. 2577-2585
-
-
Van Sande, J.1
Parma, J.2
Tonacchera, M.3
Swillens, S.4
Dumont, J.E.5
Vassart, G.6
-
24
-
-
0028948985
-
Lack of association between a polymorphism in the coding region of the thyrotropin receptor gene and Graves' disease
-
Watson, P. F., French, A., Pickerill, A. P., McIntosh, R. S. & Weetman, A. P. (1995) Lack of association between a polymorphism in the coding region of the thyrotropin receptor gene and Graves' disease, J. Clin. Endocrinol. Metab. 80, 1032-1035.
-
(1995)
J. Clin. Endocrinol. Metab.
, vol.80
, pp. 1032-1035
-
-
Watson, P.F.1
French, A.2
Pickerill, A.P.3
McIntosh, R.S.4
Weetman, A.P.5
|