-
1
-
-
0027315881
-
Molecular genetics of human androgen insensitivity
-
DOI 10.1007/BF02125442
-
Molecular genetics of human androgen insensitivity. TR Brown PA Scherer YT Chang CJ Migeon P Ghirri K Murono Z Zhou, Eurpean Journal of Pediatrics 1993 152 62 S69 10.1007/BF02125442 (Pubitemid 23166222)
-
(1993)
European Journal of Pediatrics
, vol.152
, Issue.SUPPL. 2
-
-
Brown, T.R.1
Scherer, P.A.2
Chang, Y.-T.3
Migeon, C.J.4
Ghirri, P.5
Murono, K.6
Zhou, Z.7
-
2
-
-
0029069878
-
Androgen receptor defects: Historical, clinical, and molecular perspectives
-
7671849
-
Androgen receptor defects: Historical, clinical, and molecular perspectives. CA Quigley A De Bellis KB Marschke MK el-Awady EM Wilson FS French, Endocrine Reviews 1995 16 271 321 7671849
-
(1995)
Endocrine Reviews
, vol.16
, pp. 271-321
-
-
Quigley, C.A.1
De Bellis, A.2
Marschke, K.B.3
El-Awady, M.K.4
Wilson, E.M.5
French, F.S.6
-
4
-
-
0034583270
-
The molecular basis of androgen insensitivity
-
DOI 10.1159/000053282
-
The molecular basis of androgen insensitivity. EM Nitsche O Hiort, Hormone Research 2000 54 327 333 10.1159/000053282 11595828 (Pubitemid 34701744)
-
(2000)
Hormone Research
, vol.54
, Issue.5-6
, pp. 327-333
-
-
Nitsche, E.M.1
Hiort, O.2
-
6
-
-
33947246101
-
Phenotypic heterogeneity of mutations in androgen receptor gene
-
DOI 10.1111/j.1745-7262.2007.00250.x
-
Phenotypic heterogeneity of mutations in androgen receptor gene. S Rajender L Singh K Thangaraj, Asian Journal of Andrology 2007 9 147 179 10.1111/j.1745-7262.2007.00250.x 17334586 (Pubitemid 46416577)
-
(2007)
Asian Journal of Andrology
, vol.9
, Issue.2
, pp. 147-179
-
-
Rajender, S.1
Singh, L.2
Thangaraj, K.3
Lee, W.M.4
-
7
-
-
0023910355
-
Cloning of Human Androgen Receptor Complementary DNA and Localization to the X Chromosome
-
10.1126/science.3353727. 3353727
-
Cloning of Human Androgen Receptor Complementary DNA and Localization to the X Chromosome. DB Lubahn DR Joseph PM Sullivan HF Willard FS French EM Wilson, Science 1988 240 327 330 10.1126/science.3353727 3353727
-
(1988)
Science
, vol.240
, pp. 327-330
-
-
Lubahn, D.B.1
Joseph, D.R.2
Sullivan, P.M.3
Willard, H.F.4
French, F.S.5
Wilson, E.M.6
-
8
-
-
0024848136
-
The human androgen receptor: Domain structure, genomic organization and regulation of expression
-
The human androgen receptor: domain structure, genomic organization and regulation of expression. AO Brinkmann PW Faber HC van Rooij GG Kuiper C Ris P Klaassen JA van der Korput MM Voorhorst JH van Laar E Mulder J Trapman, Journal of Steroid Biochemistry 1989 34 307 310 10.1016/0022-4731(89)90098-8 2626022 (Pubitemid 20061799)
-
(1989)
Journal of Steroid Biochemistry
, vol.34
, Issue.1-6
, pp. 307-310
-
-
Brinkmann, A.O.1
Faber, P.W.2
Van Rooij, H.C.J.3
Kuiper, G.G.J.M.4
Ris, C.5
Klaassen, P.6
Van Der Korput, J.A.G.M.7
Voorhorst, M.M.8
Van Laar, J.H.9
Mulder, E.10
Trapman, J.11
-
9
-
-
0024555077
-
Androgen receptor locus on the human X chromosome: Regional localization to Xq11-12 and description of a DNA polymorphism
-
Androgen receptor locus on the human X chromosome: Regional localization to Xq11-12 and description of a DNA polymorphism. CJ Brown SJ Goss DB Lubahn DR Joseph EM Wilson FS French HF Willard, American Journal of Human Genetics 1989 44 264 269 2563196 (Pubitemid 19045022)
-
(1989)
American Journal of Human Genetics
, vol.44
, Issue.2
, pp. 264-269
-
-
Brown, C.J.1
Goss, S.J.2
Lubahn, D.B.3
Joseph, D.R.4
Wilson, E.M.5
French, F.S.6
Willard, H.F.7
-
10
-
-
0024497830
-
The N-terminal domain of the human androgen receptor is encoded by one, large exon
-
DOI 10.1016/0303-7207(89)90137-8
-
The N-terminal domain of the human androgen receptor is encoded by one, large exon. PW Faber GG Kuiper HC van Rooij JA van der Korput AO Brinkmann J Trapman, Molecular and Cellular Endocrinology 1989 61 257 262 10.1016/0303-7207(89)90137-8 2917688 (Pubitemid 19038905)
-
(1989)
Molecular and Cellular Endocrinology
, vol.61
, Issue.2
, pp. 257-262
-
-
Faber, P.W.1
Kuiper, G.G.J.M.2
Van Rooij, H.C.J.3
Van Der Korput, J.A.G.M.4
Brinkmann, A.O.5
Trapman, J.6
-
11
-
-
0028904382
-
Identification of two transcription activation units in the N-terminal domain of the human androgen receptor
-
10.1074/jbc.270.13.7341. 7706276
-
Identification of two transcription activation units in the N-terminal domain of the human androgen receptor. G Jenster HA van der Korput J Trapman AO Brinkmann, Journal of Biological Chemistry 1995 270 7341 7346 10.1074/jbc.270.13.7341 7706276
-
(1995)
Journal of Biological Chemistry
, vol.270
, pp. 7341-7346
-
-
Jenster, G.1
Van Der Korput, H.A.2
Trapman, J.3
Brinkmann, A.O.4
-
12
-
-
0026685062
-
Anatomy of the steroid receptor zinc finger region
-
1618160
-
Anatomy of the steroid receptor zinc finger region. LP Freedman, Endocr Rev 1992 13 129 145 1618160
-
(1992)
Endocr Rev
, vol.13
, pp. 129-145
-
-
Freedman, L.P.1
-
14
-
-
0027283705
-
Nuclear import of the human androgen receptor
-
Nuclear import of the human androgen receptor. G Jenster J Trapman AO Brinkmann, Biochemical Journal 1993 293 761 768 8352744 (Pubitemid 23244561)
-
(1993)
Biochemical Journal
, vol.293
, Issue.3
, pp. 761-768
-
-
Jenster, G.1
Trapman, J.2
Brinkmann, A.O.3
-
15
-
-
0023543710
-
Topographic recognition of cyclic hydrocarbons and related compounds by receptors for androgens, estrogens, and glucocorticoids
-
10.1016/0022-4731(87)90303-7. 3695475
-
Topographic recognition of cyclic hydrocarbons and related compounds by receptors for androgens, estrogens, and glucocorticoids. CS Chang SS Liao, Journal of Steroid Biochemistry 1987 27 123 131 10.1016/0022-4731(87)90303-7 3695475
-
(1987)
Journal of Steroid Biochemistry
, vol.27
, pp. 123-131
-
-
Chang, C.S.1
Liao, S.S.2
-
16
-
-
34447639257
-
Genetic analysis of androgen receptors in development and disease
-
10582090
-
Genetic analysis of androgen receptors in development and disease. AO Brinkmann J Trapman, Advances in Pharmacology 2000 47 317 341 10582090
-
(2000)
Advances in Pharmacology
, vol.47
, pp. 317-341
-
-
Brinkmann, A.O.1
Trapman, J.2
-
17
-
-
0034454581
-
Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome
-
DOI 10.1210/jc.85.2.658
-
Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. SF Ahmed A Cheng L Dovey JR Hawkins H Martin J Rowland N Shimura AD Tait IA Hughes, Journal Clinical Endocrinology and Metabolism 2000 85 658 665 10.1210/jc.85.2.658 (Pubitemid 32273650)
-
(2000)
Journal of Clinical Endocrinology and Metabolism
, vol.85
, Issue.2
, pp. 658-665
-
-
Ahmed, S.F.1
Cheng, A.2
Dovey, L.3
Hawkins, J.R.4
Martin, H.5
Rowland, J.6
Shimura, N.7
Tait, A.D.8
Hughes, I.A.9
-
18
-
-
0035919213
-
Molecular basis of androgen insensitivity
-
DOI 10.1016/S0303-7207(01)00466-X, PII S030372070100466X
-
Molecular basis of androgen insensitivity. AO Brinkmann, Molecular and Cellular Endocrinology 2001 179 105 109 10.1016/S0303-7207(01)00466-X 11420135 (Pubitemid 32564957)
-
(2001)
Molecular and Cellular Endocrinology
, vol.179
, Issue.1-2
, pp. 105-109
-
-
Brinkmann, A.O.1
-
19
-
-
2642544224
-
The androgen receptor gene mutations database (ARDB): 2004 Update
-
DOI 10.1002/humu.20044
-
The androgen receptor gene mutations database (ARDB): 2004 update. B Gottlieb LK Beitel JH Wu M Trifiro, Human Mutation 2004 23 527 533 10.1002/humu.20044 15146455 (Pubitemid 38720602)
-
(2004)
Human Mutation
, vol.23
, Issue.6
, pp. 527-533
-
-
Gottlieb, B.1
Beitel, L.K.2
Wu, J.H.3
Trifiro, M.4
-
20
-
-
19944426875
-
Androgen insensitivity syndrome: Somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling
-
DOI 10.1210/jc.2004-0462
-
Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling. B Köhler S Lumbroso J Leger F Audran ES Grau F Kurtz G Pinto M Salerno T Semitcheva P Czernichow C Sultan, Journal Clinical Endocrinology and Metabolism 2005 90 106 111 (Pubitemid 40116641)
-
(2005)
Journal of Clinical Endocrinology and Metabolism
, vol.90
, Issue.1
, pp. 106-111
-
-
Kohler, B.1
Lumbroso, S.2
Leger, J.3
Audran, F.4
Grau, E.S.5
Kurtz, F.6
Pinto, G.7
Salerno, M.8
Semitcheva, T.9
Czernichow, P.10
Sultan, C.11
-
21
-
-
17944370006
-
Genotype Versus phenotype in families with androgen insensitivity syndrome
-
DOI 10.1210/jc.86.9.4151
-
Genotype versus phenotype in families with androgen insensitivity syndrome. AL Boehmer O Brinkmann H Brüggenwirth C van Assendelft BJ Otten MC Verleun-Mooijman MF Niermeijer HG Brunner CW Rouwé JJ Waelkens W Oostdijk WJ Kleijer TH van der Kwast MA de Vroede SL Drop, Journal Clinical Endocrinology and Metabolism 2001 86 4151 4160 10.1210/jc.86.9.4151 (Pubitemid 32848528)
-
(2001)
Journal of Clinical Endocrinology and Metabolism
, vol.86
, Issue.9
, pp. 4151-4160
-
-
Boehmer, A.L.M.1
Bruggenwirth, H.2
Van Assendelft, C.3
Otten, B.J.4
Verleun-Mooijman, M.C.T.5
Niermeijer, M.F.6
Brunner, H.G.7
Rouwe, C.W.8
Waelkens, J.J.9
Oostdijk, W.10
Kleijer, W.J.11
Van Der Kwast, T.H.12
De Vroede, M.A.13
Drop, S.L.S.14
-
23
-
-
15944427078
-
Androgen receptor gene CAG and GGC repeat lengths in cryptorchidism
-
DOI 10.1530/eje.1.01860
-
Androgen receptor gene CAG and GGC repeat lengths in cryptorchidism. A Ferlin A Garolla A Bettella L Bartoloni C Vinanzi A Roverato C Foresta, European Journal of Endocrinology 2005 152 419 425 10.1530/eje.1.01860 15757859 (Pubitemid 40439495)
-
(2005)
European Journal of Endocrinology
, vol.152
, Issue.3
, pp. 419-425
-
-
Ferlin, A.1
Garolla, A.2
Bettella, A.3
Bartoloni, L.4
Vinanzi, C.5
Roverato, A.6
Foresta, C.7
-
25
-
-
0029809798
-
Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene
-
DOI 10.1210/jc.81.8.2994
-
Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene. P Rodien F Mebarki I Mowszowicz JL Chaussain J Young Y Morel G Schaison, Journal Clinical Endocrinology and Metabolism 1996 81 2994 2998 10.1210/jc.81.8.2994 (Pubitemid 26323898)
-
(1996)
Journal of Clinical Endocrinology and Metabolism
, vol.81
, Issue.8
, pp. 2994-2998
-
-
Rodien, P.1
Mebarki, F.2
Mowszowicz, I.3
Chaussain, J.-L.4
Young, J.5
Morel, Y.6
Schaison, G.7
-
26
-
-
0035096494
-
Novel molecular defects in the androgen receptor gene of Mexican patients with androgen insensitivity
-
DOI 10.1034/j.1399-0004.2001.590307.x
-
Novel molecular defects in the androgen receptor gene of Mexican patients with androgen insensitivity. B Chávez F Vilchis JC Zenteno F Larrea S Kofman-Alfaro, Clinical Genetics 2001 59 185 188 10.1034/j.1399-0004.2001. 590307.x 11260228 (Pubitemid 32229774)
-
(2001)
Clinical Genetics
, vol.59
, Issue.3
, pp. 185-188
-
-
Chavez, B.1
Vilchis, F.2
Zenteno, J.3
Larrea, F.4
Kofman-Alfaro, S.5
-
27
-
-
0028916302
-
Characterization of alternative amino acid substitutions at arginine 830 of the androgen receptor that cause complete androgen insensitivity in three families
-
10.1093/hmg/4.4.515. 7633398
-
Characterization of alternative amino acid substitutions at arginine 830 of the androgen receptor that cause complete androgen insensitivity in three families. DL Shkolny TR Brown HH Punnett M Kaufman MA Trifiro L Pinsky, Human Molecular Genetics 1995 4 515 521 10.1093/hmg/4.4.515 7633398
-
(1995)
Human Molecular Genetics
, vol.4
, pp. 515-521
-
-
Shkolny, D.L.1
Brown, T.R.2
Punnett, H.H.3
Kaufman, M.4
Trifiro, M.A.5
Pinsky, L.6
-
28
-
-
33750612246
-
R831X mutation of the androgen receptor gene in an adolescent with complete androgen insensitivity syndrome and bilateral testicular hamartomata
-
R831X mutation of the androgen receptor gene in an adolescent with complete androgen insensitivity syndrome and bilateral testicular hamartomata. DG Goulis PK Iliadou A Papanicolaou I Georgiou A Chatzikyriakidou S Gerou IN Bondis I Papadimas, Hormones (Athens) 2006 5 200 204
-
(2006)
Hormones (Athens)
, vol.5
, pp. 200-204
-
-
Goulis, D.G.1
Iliadou, P.K.2
Papanicolaou, A.3
Georgiou, I.4
Chatzikyriakidou, A.5
Gerou, S.6
Bondis, I.N.7
Papadimas, I.8
-
29
-
-
0034714276
-
Structural evidence for ligand specificity in the binding domain of the human androgen receptor. Implications for pathogenic gene mutations
-
10.1074/jbc.M004571200. 10840043
-
Structural evidence for ligand specificity in the binding domain of the human androgen receptor. Implications for pathogenic gene mutations. PM Matias P Donner R Coelho M Thomaz C Peixoto S Macedo N Otto S Joschko P Scholz A Wegg S Bäsler M Schäfer U Egner MA Carrondo, Journal of Biological Chemistry 2000 275 26164 26171 10.1074/jbc.M004571200 10840043
-
(2000)
Journal of Biological Chemistry
, vol.275
, pp. 26164-26171
-
-
Matias, P.M.1
Donner, P.2
Coelho, R.3
Thomaz, M.4
Peixoto, C.5
MacEdo, S.6
Otto, N.7
Joschko, S.8
Scholz, P.9
Wegg, A.10
Bäsler, S.11
Schäfer, M.12
Egner, U.13
Carrondo, M.A.14
-
30
-
-
35348812462
-
A surface on the androgen receptor that allosterically regulates coactivator binding
-
DOI 10.1073/pnas.0708036104
-
A surface on the androgen receptor that allosterically regulates coactivator binding. E Estébanez-Perpĩá LA Arnold P Nguyen ED Rodrigues E Mar R Bateman P Pallai KM Shokat JD Baxter RK Guy P Webb RJ Fletterick, Proceedings of National Academy of Science USA 2007 104 16074 16079 10.1073/pnas.0708036104 (Pubitemid 350099366)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.41
, pp. 16074-16079
-
-
Estebanez-Perpina, E.1
Arnold, L.A.2
Nguyen, P.3
Rodrigues, E.D.4
Mar, E.5
Bateman, R.6
Pallai, P.7
Shokat, K.M.8
Baxter, J.D.9
Guy, R.K.10
Webb, P.11
Fletterick, R.J.12
-
31
-
-
49349087635
-
A novel mutation F826L in the human androgen receptor in partial androgen insensitivity syndrome; Increased NH2-/COOH-terminal domain interaction and TIF2 co-activation
-
10.1016/j.mce.2008.06.016. 18656523
-
A novel mutation F826L in the human androgen receptor in partial androgen insensitivity syndrome; increased NH2-/COOH-terminal domain interaction and TIF2 co-activation. HY Wong JW Hoogerbrugge KL Pang M van Leeuwen ME van Royen M Molier CA Berrevoets D Dooijes HJ Dubbink DJ van de Wijngaart KP Wolffenbuttel J Trapman WJ Kleijer SL Drop JA Grootegoed AO Brinkmann, Molecular and Cellular Endocrinology 2008 292 69 78 10.1016/j.mce.2008.06.016 18656523
-
(2008)
Molecular and Cellular Endocrinology
, vol.292
, pp. 69-78
-
-
Wong, H.Y.1
Hoogerbrugge, J.W.2
Pang, K.L.3
Van Leeuwen, M.4
Van Royen, M.E.5
Molier, M.6
Berrevoets, C.A.7
Dooijes, D.8
Dubbink, H.J.9
Van De Wijngaart, D.J.10
Wolffenbuttel, K.P.11
Trapman, J.12
Kleijer, W.J.13
Drop, S.L.14
Grootegoed, J.A.15
Brinkmann, A.O.16
-
32
-
-
0036166569
-
Androgen receptor mutations causing human androgen insensitivity syndromes show a key role of residue M807 in helix 8-helix 10 interactions and in receptor ligand-binding domain stability
-
Androgen receptor mutations causing Human androgen insensitivity syndromes show a key role of residue M807 in Helix 8-Helix 10 interactions and in receptor ligand-binding domain stability. YC Ong PR Kolatkar EL Yong, Molecular Human Reproduction 2002 8 101 108 10.1093/molehr/8.2.101 11818512 (Pubitemid 34144969)
-
(2002)
Molecular Human Reproduction
, vol.8
, Issue.2
, pp. 101-108
-
-
Ong, Y.C.1
Kolatkar, P.R.2
Yong, E.L.3
-
33
-
-
0034465490
-
Human androgen receptor mutation disrupts ternary interactions between ligand, receptor domains, and the coactivator TIF2 (transcription intermediary factor 2)
-
DOI 10.1210/me.14.8.1187
-
Human androgen receptor mutation disrupts ternary interactions between ligand, receptor domains, and the coactivator TIF2 (transcription intermediary factor 2). J Lim FJ Ghadessy AA Abdullah L Pinsky M Trifiro EL Yong, Molecular Endocrinology 2000 14 1187 1197 10.1210/me.14.8.1187 10935543 (Pubitemid 32260480)
-
(2000)
Molecular Endocrinology
, vol.14
, Issue.8
, pp. 1187-1197
-
-
Lim, J.1
Ghadessy, F.J.2
Abdullah, A.A.R.3
Pinsky, L.4
Trifiro, M.5
Yong, E.L.6
-
34
-
-
33644751845
-
Impaired helix 12 dynamics due to proline 892 substitutions in the androgen receptor are associated with complete androgen insensitivity
-
DOI 10.1093/hmg/ddl009
-
Impaired helix 12 dynamics due to proline 892 substitutions in the androgen receptor are associated with complete androgen insensitivity. YA Elhaji I Stoica S Dennis EO Purisima R Lumbroso LK Beitel MA Trifiro, Human Molecular Genetics 2006 15 921 931 10.1093/hmg/ddl009 16449235 (Pubitemid 43338233)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.6
, pp. 921-931
-
-
Elhaji, Y.A.1
Stoica, I.2
Dennis, S.3
Purisima, E.O.4
Trifiro, M.A.5
|