-
1
-
-
0028888593
-
Brief report: Resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene
-
Sunthornthepvarakui T, Gottschalk ME, Hayashi Y, Refetoff S 1995 Brief report: 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
-
-
Sunthornthepvarakui, T.1
Gottschalk, M.E.2
Hayashi, Y.3
Refetoff, S.4
-
2
-
-
0344876159
-
Resistance to thyrotropin
-
Refetoff S 2003 Resistance to thyrotropin. J Endocrinol Invest 26: 770-779
-
(2003)
J Endocrinol Invest
, vol.26
, pp. 770-779
-
-
Refetoff, S.1
-
3
-
-
10544240361
-
Four families with loss of function mutations of the thyrotropin receptor
-
DOI 10.1210/jc.81.12.4229
-
de Roux N, Misrahi M, Brauner R, Houang M, Carel JC, Granier M, Le Bouc Y, Ghinea N, Boumedienne A, Toublanc JE, Milgrom E 1996 Four families with loss of function mutations of the thyrotropin receptor. J Clin Endocrinol Metab 81:4229-4235 (Pubitemid 26412022)
-
(1996)
Journal of Clinical Endocrinology and Metabolism
, vol.81
, Issue.12
, pp. 4229-4235
-
-
De Roux, N.1
Misrahi, M.2
Brauner, R.3
Houang, M.4
Carel, J.C.5
Granier, M.6
Le Bouc, Y.7
Ghinea, N.8
Boumedienne, A.9
Toublanc, J.E.10
Milgrom, E.11
-
4
-
-
0034851996
-
Thyroid resistance to TSH complicated by autoimmune thyroiditis
-
DOI 10.1210/jc.86.9.4543
-
Tonacchera M, Agretti P, De Marco G, Perri A, Pinchera A, Vitti P, Chiovato L 2001 Thyroid resistance to TSH complicated by autoimmune thyroiditis. J Clin Endocrinol Metab 86:4543-4546 (Pubitemid 32848586)
-
(2001)
Journal of Clinical Endocrinology and Metabolism
, vol.86
, Issue.9
, pp. 4543-4546
-
-
Tonacchera, M.1
Agretti, P.2
De Marco, G.3
Perri, A.4
Pinchera, A.5
Vitti, P.6
Chiovato, L.7
-
5
-
-
18444389956
-
Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism
-
DOI 10.1210/jc.87.6.2549
-
Alberti L, Proverbio MC, Costagliola S, Romoli R, Boldrighini B, Vigone MC, Weber G, Chiumello G, Beck-Peccoz P, Persani L 2002 Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism. J Clin Endocrinol Metab 87:2549-2555 (Pubitemid 34655312)
-
(2002)
Journal of Clinical Endocrinology and Metabolism
, vol.87
, Issue.6
, pp. 2549-2555
-
-
Alberti, L.1
Proverbio, M.C.2
Costagliola, S.3
Romoli, R.4
Boldrighini, B.5
Vigone, M.C.6
Weber, G.7
Chiumello, G.8
Beck-Peccoz, P.9
Persani, L.10
-
6
-
-
8744250289
-
Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism
-
DOI 10.1210/jc.2004-1243
-
Tonacchera M, Perri A, De Marco G, Agretti P, Banco ME, Di Cosmo C, Grasso L, Vitti P, Chiovato L, Pinchera A 2004 Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism. J Clin Endocrinol Metab 89:5787-5793 (Pubitemid 39518472)
-
(2004)
Journal of Clinical Endocrinology and Metabolism
, vol.89
, Issue.11
, pp. 5787-5793
-
-
Tonacchera, M.1
Perri, A.2
De Marco, G.3
Agretti, P.4
Banco, M.E.5
Di Cosmo, C.6
Grasso, L.7
Vitti, P.8
Chiovato, L.9
Pinchera, A.10
-
7
-
-
23244440500
-
Thyrotropin receptor gene mutations and TSH resistance: Variable expressivity in the heterozygotes
-
DOI 10.1111/j.1365-2265.2005.02314.x
-
Camilot M, Teofoli F, Gandini A, Franceschi R, Rapa A, Corrias A, Bona G, Radetti G, Tatò L 2005 Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes. Clin Endocrinol (Oxf) 63:146-151 (Pubitemid 41097982)
-
(2005)
Clinical Endocrinology
, vol.63
, Issue.2
, pp. 146-151
-
-
Camilot, M.1
Teofoli, F.2
Gandini, A.3
Franceschi, R.4
Rapa, A.5
Corriasi, A.6
Bona, G.7
Radetti, G.8
Tato, L.9
-
8
-
-
35448932805
-
Identification of TSH receptor mutations in three families with resistance to TSH
-
DOI 10.1111/j.1365-2265.2007.02950.x
-
Tonacchera M, Di Cosmo C, De Marco G, Agretti P, Banco M, Perri A, Gianetti E, Montanelli L, Vitti P, Pinchera A 2007 Identification of TSH receptor mutations in three families with resistance to TSH. Clin Endocrinol (Oxf) 67:712-718 (Pubitemid 47620436)
-
(2007)
Clinical Endocrinology
, vol.67
, Issue.5
, pp. 712-718
-
-
Tonacchera, M.1
Di Cosmo, C.2
De Marco, G.3
Agretti, P.4
Banco, M.5
Perri, A.6
Gianetti, E.7
Montanelli, L.8
Vitti, P.9
Pinchera, A.10
-
9
-
-
0034527615
-
A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH
-
DOI 10.1210/jc.85.11.4238
-
Russo D, Betterle C, Arturi F, Chiefari E, Girelli ME, Filetti S 2000 A novel mutation in the thyrotropin (TSH) receptor gene causing loss of TSH binding but constitutive receptor activation in a family with resistance to TSH. J Clin Endocrinol Metab 85:4238-4242 (Pubitemid 32055379)
-
(2000)
Journal of Clinical Endocrinology and Metabolism
, vol.85
, Issue.11
, pp. 4238-4242
-
-
Russo, D.1
Betterle, C.2
Arturi, F.3
Chiefari, E.4
Girelli, M.E.5
Filetti, S.6
-
10
-
-
0026743033
-
The thyrotropin receptor and the regulation of thyrocyte function and growth
-
Vassart G, Dumont JE 1992 The thyrotropin receptor and the regulation of thyrocyte function and growth. Endocr Rev 13:596-611
-
(1992)
Endocr Rev
, vol.13
, pp. 596-611
-
-
Vassart, G.1
Dumont, J.E.2
-
11
-
-
33746527488
-
Inactivating mutations of G protein-coupled receptors and diseases: Structure-function insights and therapeutic implications
-
Tao YX 2006 Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications. Pharmacol Ther 111:949-973
-
(2006)
Pharmacol Ther
, vol.111
, pp. 949-973
-
-
Tao, Y.X.1
-
12
-
-
27544481186
-
Intracellular entrapment of wild-type TSH receptor by oligomerization with mutants linked to dominant TSH resistance
-
DOI 10.1093/hmg/ddi329
-
Calebiro D, de Filippis T, Lucchi S, Covino C, Panigone S, Beck-Peccoz P, Dunlap D, Persani L 2005 Intracellular entrapment of wild-type TSH receptor by oligomerization with mutants linked to dominant TSH resistance. Hum Mol Genet 14:2991-3002 (Pubitemid 41535464)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.20
, pp. 2991-3002
-
-
Calebiro, D.1
De Filippis, T.2
Lucchi, S.3
Covino, C.4
Panigone, S.5
Beck-Peccoz, P.6
Dunlap, D.7
Persani, L.8
-
13
-
-
34447134181
-
A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis
-
Grasberger H, Van Sande J, Hag-Dahood Mahameed A, Tenenbaum-Rakover Y, Refetoff S 2007 A familial thyrotropin (TSH) receptor mutation provides in vivo evidence that the inositol phosphates/Ca2+ cascade mediates TSH action on thyroid hormone synthesis. J Clin Endocrinol Metab 92:2816-2820
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 2816-2820
-
-
Grasberger, H.1
Van Sande, J.2
Hag-Dahood Mahameed, A.3
Tenenbaum-Rakover, Y.4
Refetoff, S.5
-
14
-
-
33748998206
-
Italian cross-sectional growth charts for height, weight and BMI (2 to 20 yr)
-
Cacciari E, Milani S, Balsamo A, Spada E, Bona G, Cavallo L, Cerutti F, Gargantini L, Greggio N, Tonini G, Cicognani A 2006 Italian cross-sectional growth charts for height, weight and BMI (2 to 20 yr). J Endocrinol Invest 29:581-593 (Pubitemid 44446267)
-
(2006)
Journal of Endocrinological Investigation
, vol.29
, Issue.7
, pp. 581-593
-
-
Cacciari, E.1
Milani, S.2
Balsamo, A.3
Spada, E.4
Bona, G.5
Cavallo, L.6
Cerutti, F.7
Gargantini, L.8
Greggio, N.9
Tonini, G.10
Cicognani, A.11
-
15
-
-
0025877926
-
Determination of thyroid volume by ultrasound from the neonatal period to late adolescence
-
Chanoine JP, Toppet V, Lagasse R, Spehl M, Delange F 1991 Determination of thyroid volume by ultrasound from the neonatal period to late adolescence. Eur J Pediatr 150:395-399
-
(1991)
Eur J Pediatr
, vol.150
, pp. 395-399
-
-
Chanoine, J.P.1
Toppet, V.2
Lagasse, R.3
Spehl, M.4
Delange, F.5
-
16
-
-
0021770787
-
High level transient expression of a chloramphenicol acetyl transferase gene by DEAE-dextran mediated DNA transfection coupled with a dimethyl sulfoxide or glycerol shock treatment
-
Lopata MA, Cleveland DW, Sollner-Webb B 1984 High level transient expression of a chloramphenicol acetyl transferase gene by DEAE-dextran mediated DNA transfection coupled with a dimethyl sulfoxide or glycerol shock treatment. Nucleic Acids Res 12:5707-5717
-
(1984)
Nucleic Acids Res
, vol.12
, pp. 5707-5717
-
-
Lopata, M.A.1
Cleveland, D.W.2
Sollner-Webb, B.3
-
17
-
-
0034454929
-
Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: Evidence for a new inactivating mutation of the TSH receptor gene
-
DOI 10.1210/jc.85.3.1001
-
Tonacchera M, Agretti P, Pinchera A, Rosellini V, Perri A, Collecchi P, Vitti P, Chiovato L 2000 Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene. J Clin Endocrinol Metab 85:1001-1008 (Pubitemid 32269340)
-
(2000)
Journal of Clinical Endocrinology and Metabolism
, vol.85
, Issue.3
, pp. 1001-1008
-
-
Tonacchera, M.1
Agretti, P.2
Pinchera, A.3
Rosellini, V.4
Perri, A.5
Collecchi, P.6
Vitti, P.7
Chiovato, L.8
-
18
-
-
35349002142
-
A fast method to detect cell surface expression of thyrotropin receptor (TSHr): The microchip flow cytometry analysis
-
DOI 10.1089/thy.2007.0114
-
Agretti P, De Marco G, Capodanno A, Ferrarini E, Dimida A, Sansone D, Collecchi P, Pinchera A, Vitti P, Tonacchera M 2007 A fast method to detect cell surface expression of thyrotropin receptor (TSHr): the microchip flow cytometry analysis. Thyroid 17:861-868 (Pubitemid 47606192)
-
(2007)
Thyroid
, vol.17
, Issue.9
, pp. 861-868
-
-
Agretti, P.1
De Marco, G.2
Capodanno, A.3
Ferrarini, E.4
Dimida, A.5
Sansone, D.6
Collecchi, P.7
Pinchera, A.8
Vitti, P.9
Tonacchera, M.10
-
19
-
-
0030989828
-
Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH
-
DOI 10.1210/jc.82.4.1094
-
Clifton-Bligh RJ, Gregory JW, Ludgate M, John R, Persani L, Asteria C, Beck-Peccoz P, Chatterjee VK 1997 Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. J Clin Endocrinol Metab 82:1094-1100 (Pubitemid 27166648)
-
(1997)
Journal of Clinical Endocrinology and Metabolism
, vol.82
, Issue.4
, pp. 1094-1100
-
-
Clifton-Bligh, R.J.1
Gregory, J.W.2
Ludgate, M.3
John, R.4
Persani, L.5
Asteria, C.6
Beck-Peccoz, P.7
Chatterjee, V.K.K.8
-
20
-
-
0030994365
-
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland
-
Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C 1997 Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest 99:3018-3024 (Pubitemid 27278679)
-
(1997)
Journal of Clinical Investigation
, vol.99
, Issue.12
, pp. 3018-3024
-
-
Abramowicz, M.J.1
Duprez, L.2
Parma, J.3
Vassart, G.4
Heinrichs, C.5
-
21
-
-
66149109163
-
Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community
-
Tenenbaum-Rakover Y, Grasberger H, Mamanasiri S, Ringkananont U, Montanelli L, Barkoff MS, Dahood AM, Refetoff S 2009 Loss-of-function mutations in the thyrotropin receptor gene as a major determinant of hyperthyrotropinemia in a consanguineous community. J Clin Endocrinol Metab 94:1706-1712
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 1706-1712
-
-
Tenenbaum-Rakover, Y.1
Grasberger, H.2
Mamanasiri, S.3
Ringkananont, U.4
Montanelli, L.5
Barkoff, M.S.6
Dahood, A.M.7
Refetoff, S.8
-
22
-
-
65249173572
-
TSHR mutations as a cause of congenital hypothyroidism in Japan: A population-based genetic epidemiology study
-
Narumi S, Muroya K, Abe Y, Yasui M, Asakura Y, Adachi M, Hasegawa T 2009 TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study. J Clin Endocrinol Metab 94:1317-1323
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 1317-1323
-
-
Narumi, S.1
Muroya, K.2
Abe, Y.3
Yasui, M.4
Asakura, Y.5
Adachi, M.6
Hasegawa, T.7
-
23
-
-
39149116328
-
The clinical significance of subclinical thyroid dysfunction
-
DOI 10.1210/er.2006-0043
-
Biondi B, Cooper DS 2008 The clinical significance of subclinical thyroid dysfunction. Endocr Rev 29:76-131 (Pubitemid 351252748)
-
(2008)
Endocrine Reviews
, vol.29
, Issue.1
, pp. 76-131
-
-
Biondi, B.1
Cooper, D.S.2
-
24
-
-
40949145750
-
Subclinical hypothyroidism: The state of the art
-
Arrigo T, Wasniewska M, Crisafulli G, Lombardo F, Messina MF, Rulli I, Salzano G, Valenzise M, Zirilli G, DeLuca F 2008 Subclinical hypothyroidism: the state of the art. J Endocrinol Invest 31:79-84
-
(2008)
J Endocrinol Invest
, vol.31
, pp. 79-84
-
-
Arrigo, T.1
Wasniewska, M.2
Crisafulli, G.3
Lombardo, F.4
Messina, M.F.5
Rulli, I.6
Salzano, G.7
Valenzise, M.8
Zirilli, G.9
Deluca, F.10
-
25
-
-
0032752018
-
Structure-function relationships of two loss-of-function mutations of the thyrotropin receptor gene
-
Costagliola S, Sunthorntepvarakul T, Migeotte I, Van Sande J, Kajava AM, Refetoff S, Vassart G 1999 Structure-function relationships of two loss-of-function mutations of the thyrotropin receptor gene. Thyroid 9:995-1000 (Pubitemid 29521983)
-
(1999)
Thyroid
, vol.9
, Issue.10
, pp. 995-1000
-
-
Costagliola, S.1
Sunthorntepvarakul, T.2
Migeotte, I.3
Van Sande, J.4
Kajava, A.M.5
Refetoff, S.6
Vassart, G.7
-
26
-
-
0029646089
-
Structural predictions for the ligand-binding region of glycoprotein hormone receptors and the nature of hormone-receptor interactions
-
DOI 10.1016/S0969-2126(01)00272-6
-
Jiang X, Dreano M, Buckler DR, Cheng S, Ythier A, Wu H, Hendrickson WA, el Tayar N 1995 Structural predictions for the ligand-binding region of glycoprotein hormone receptors and the nature of hormone-receptor interactions. Structure 3:1341-1353 (Pubitemid 3012266)
-
(1995)
Structure
, vol.3
, Issue.12
, pp. 1341-1353
-
-
Jiang, X.1
Dreano, M.2
Buckler, D.R.3
Cheng, S.4
Ythier, A.5
Wu, H.6
Hendrickson, W.A.7
El Tayar, N.8
-
27
-
-
58549089290
-
Functional studies of new thyrotropin receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotropinaemia
-
Oxf
-
De Marco G, Agretti P, Camilot M, Teofoli F, Tatò L, Vitti P, Pinchera A, Tonacchera M 2009 Functional studies of new thyrotropin receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotropinaemia. Clin Endocrinol (Oxf) 70:335-338
-
(2009)
Clin Endocrinol
, vol.70
, pp. 335-338
-
-
De Marco, G.1
Agretti, P.2
Camilot, M.3
Teofoli, F.4
Tatò, L.5
Vitti, P.6
Pinchera, A.7
Tonacchera, M.8
-
28
-
-
33750488472
-
Structural determinants for G-protein activation and specificity in the third intracellular loop of the thyroid-stimulating hormone receptor
-
DOI 10.1007/s00109-006-0087-8
-
Claus M, Neumann S, Kleinau G, Krause G, Paschke R 2006 Structural determinants for G-protein activation and specificity in the third intracellular loop of the thyroid-stimulating hormone receptor. J Mol Med. 84:943-954 (Pubitemid 44655872)
-
(2006)
Journal of Molecular Medicine
, vol.84
, Issue.11
, pp. 943-954
-
-
Claus, M.1
Neumann, S.2
Kleinau, G.3
Krause, G.4
Paschke, R.5
-
29
-
-
11144225829
-
Structural determinants for G protein activation and selectivity in the second intracellular loop of the thyrotropin receptor
-
DOI 10.1210/en.2004-1045
-
Neumann S, Krause G, Claus M, Paschke R 2005 Structural determinants for G protein activation and selectivity in the second intracellular loop of the thyrotropin receptor. Endocrinology 146:477-485 (Pubitemid 40051774)
-
(2005)
Endocrinology
, vol.146
, Issue.1
, pp. 477-485
-
-
Neumann, S.1
Krause, G.2
Claus, M.3
Paschke, R.4
-
30
-
-
0027372340
-
A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty
-
DOI 10.1038/365652a0
-
Shenker A, Laue L, Kosugi S, Merendino Jr JJ, Minegishi T, Cutler Jr GB 1993 A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty. Nature 365: 652-654 (Pubitemid 23350536)
-
(1993)
Nature
, vol.365
, Issue.6447
, pp. 652-654
-
-
Shenker, A.1
Laue, L.2
Kosugi, S.3
Merendino Jr., J.J.4
Minegishi, T.5
Cutler Jr., G.B.6
-
31
-
-
0037063119
-
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism
-
DOI 10.1056/NEJMoa012752
-
Moreno JC, Bikker H, Kempers MJ, van Trotsenburg AS, Baas F, de Vijlder JJ, Vulsma T, Ris-Stalpers C 2002 Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. N Engl J Med 347:95-102 (Pubitemid 34753479)
-
(2002)
New England Journal of Medicine
, vol.347
, Issue.2
, pp. 95-102
-
-
Moreno, J.C.1
Bikker, H.2
Kempers, M.J.E.3
Paul Van Trotsenburg, A.S.4
Baas, F.5
De Vijlder, J.J.M.6
Vulsma, T.7
Ris-Stalpers, C.8
-
32
-
-
33745821178
-
Identification of the maturation factor for dual oxidase: Evolution of an eukaryotic operon equivalent
-
DOI 10.1074/jbc.C600095200
-
Grasberger H, Refetoff S 2006 Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. J Biol Chem 281:18269-18272 (Pubitemid 44035482)
-
(2006)
Journal of Biological Chemistry
, vol.281
, Issue.27
, pp. 18269-18272
-
-
Grasberger, H.1
Refetoff, S.2
|