Nuclear receptors: Structure, function and involvement in disease

International Journal of Biochemistry and Cell Biology

Volumn 29, Issue 12, 1997, Pages 1325-1341

  Tenbaum, S ^a   Baniahmad, A ^a  

^a INSTITUTO DE INVESTIGACIONES BIOMÉDICAS ALBERTO SOLS   (Spain)

Author keywords

Eukaryotic transcription; Gene regulation; Hormone; Receptor mutant; Syndrome

Indexed keywords

ANDROGEN RECEPTOR; ESTROGEN RECEPTOR; GLUCOCORTICOID RECEPTOR; HORMONE RECEPTOR; MINERALOCORTICOID RECEPTOR; RETINOIC ACID RECEPTOR; THYROID HORMONE RECEPTOR; VITAMIN D RECEPTOR;

CANCER; DIMERIZATION; DNA BINDING; ENDOCRINE DISEASE; GENE ACTIVATION; GENE MUTATION; GENE REPRESSION; HORMONE BINDING; HORMONE RESISTANCE; HORMONE RESPONSIVE ELEMENT; HUMAN; HYPOGONADISM; REVIEW;

EUKARYOTA;

EID: 0031446999     PISSN: 13572725     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1357-2725(97)00087-3     Document Type: Review

References (135)

1. I.M. Adcock S.J. Lane C.R. Brown M.J. Peters T.H. Lee P.J. Barnes Differences in binding of glucocorticoid receptor to DNA in steroid-resistant asthma J. Immunol. 154 1995 3500 3505
2. K. Arai C. Tsigos Y. Suzuki I. Irony M. Karl S. Listwak G.P. Chrousos Physiological and molecular aspects of minaralocorticoid receptor action in pseusohypoaldosteronism: a responsiveness test and therapy J. Clin. Endocrinol. Metab. 79 1994 1019 1023
3. K. Arai G.P. Chrousos Syndromes of glucocorticoid and mineralocorticoid resistance Steroid 60 1995 173 179
4. V.J. Assikis M.M. Bilimoria H.D. Muenzner J.R. Lurain V.C. Jordan Mutations of the estrogen receptor in endometrial carcinoma: evidence of an association with high tumour grade Gynecol. Oncol. 63 1996 192 199
5. A. Baniahmad T.B. Burris M-J. Tsai The nuclear hormone receptor superfamily M.J. Tsai B.W. O'Malley Mechanisms of Steroid Hormone Regulation of Gene Expression 1994 CRC Press FL 1 24
6. A. Baniahmad A.C. Köhne R. Renkawitz A transferable silencing domain is present in the thyroid hormone receptor, in the v-erbA oncogene product and in the retinoic acid receptor EMBO J. 11 1992 1015 1023
7. A. Baniahmad X. Leng T.P. Burris S.Y. Tsai M.J. Tsai B.W. O'Malley The i4 activation domain of the thyroid hormone receptor is required to release a corepressor(s) necessary for transcriptional silencing Mol. Cell. Biol. 15 1995 76 86
8. A. Baniahmad S.Y. Tsai B.W. O'Malley M.J. Tsai The kindred S thyroid hormone receptor is an active and constitutive silencer and a repressor for thyroid hormone and retinoic acid Proc. Natl. Acad. Sci. U.S.A. 89 1992 10633 10637
9. P.J. Barnes I.M. Adcock Steroid resistance in asthma Q.J.M. 88 1995 455 468
10. M. Beato Transcriptional control by nuclear receptors FASEB J. 5 1991 2044 2051
11. M. Beato P. Herrlich G. Schiitz Steroid hormone receptors: many actors in search of a plot Cell 83 1995 851 857
12. M.T. Bocquel V. Kumar C. Stricker P. Chambon H. Gronemeyer The contributions of the N- and C-terminal regions of steroid receptors to activation and transcription is both receptor and cell specific Nucleic Acids Res. 17 1989 2581 2594
13. R.V. Brenner M. Shabahang L.M. Schumaker R.J. Nauta M.R. Uskokovic S.R. Evans R.R. Buras The antiproliferative effect of vitamin D analogs on MCF-7 human breast cancer cells Cancer Lett. 92 1995 77 82
14. M. Bronnegard S. Werner J.A. Gustafsson Primary cortisol resistance associated with a thermolabile glucocorticoid receptor in a patient with fatigue as the only symptom J. Clin. Invest. 78 1986 1270 1278
15. T.R. Brown D.B. Lubahn E.M. Wilson F.S. French C.J. Micron J.L. Corden Functional characterization of naturally occuring mutant androgen receptors from patients with complete androgen insensitivity Mol. Endocrinol. 4 1990 1759 1772
16. F. Brucker-Davis M.C. Skarulis Genetic and clinical features of 42 kindreds with resistance to thyroid hormone Ann. Intern. Med 123 1995 572 583
17. N.L. Chamberlain E.D. Driver R.L. Miesfeld The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect trans-activation functionNucleic Acids Res. 22 1994 3181 3186
18. Z. Chen S.J. Chen Z.Y. Wang Retinoic acid and acute promyelocytic leukemia: a model for targeting treatment for human cancer C. R. Acad. Sci. III 317 1994 1135 1141
19. J.D. Chen R.M. Evans A transcriptional co-repressor that interacts with nuclear hormone receptors Nature 377 1995 454 457
20. E. Chung A. Hanukoglue M. Rees R. Thompson M. Dillon I. Hanukoglu T. Bistritzer U. Kuhnle J. Seckl R.M. Gardiner Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis J. Chn. Endoerinal. Metab. 80 1995 3341 3345
21. T.J. Cole Steroid receptor knockouts Cur, Opin. in Endocrinol. and Diabet. 3 1996 363 368
22. T.N. Collingwood M. Adams Y. Tone V.K.K. Chatterjee Spectrum of transcriptional, dimerization, and dominant negative properties of twenty different mutant thyroid hormone fl-receptors in thyroid hormone resistance syndrome Vol. Endocrinol. 8 1994 1262 1277
23. M. Comic C. Delva S. Castaigne In vitro all-trans retinoic acid (ATRA) sensitivity and cellular retinoic acid binding protein (CRABP) levels in relapse leukemic cells after remission induction by ATRA in acute promyelocytic leukemia Leukemia 8 1994 914 917
24. Z. Culig A. Hobisch M.V. Cronauer A.C. Cato A. Hittmair C. Radmayr J. Eberle G. Bartsch H. Klocker Mutant androgen receptor detected in an advanced-stage prostatic carcinoma is activated by adrenal androgens and progesterone Mol. Endol rinol. 7 1993 1541 1550
25. K. Damm C.C. Thompson R.M. Evans Protein encoded by v-erbA functions as a thyroid hormone receptor antagonist Nature 339 1989 593 597
26. C. Desbois D. Aubert C. Legrand B. Pain J. Samarut A novel mechanism of action for v-ECbA: abrogation of the inactivation of transcription factor AP-1 by retinoic acid and thyroid hormone receptors Cell 67 1991 731 740
27. R.M. Evans The steroid and thyroid hormone receptor superfamily Science 240 1988 889 895
28. S. Ferrari R. Rizzoli T. Chevalley D. Slosman J.A. Lisman J.P. Bonjour Vitamin-D-receptor-gene polymorphisms and change in lumbar-spine bone mineral density Lancet 345 1995 423 424
29. D. Forrest L.C. Erway L. Ng R. Altschuler T. Curran Thyroid hormone receptor beta is essential for development of auditory function Not. Genet 13 1996 354 357
30. L.P. Freedman Anatomy of the steroid receptor zinc finger region Endocrine Revs. 13 1992 129 145
31. S.A. Fuqua S.D. Fitzgerald D.C. Allred R.M. Elledge Z. Nawaz D.P. MacDonnell B.W. O'Malley G.L. Greene W.L. McGuire Inhibition of estrogen receptor action by a naturally occuring variant in human breast tumours Cancer Res. 52 1992 483 486
32. S.A. Fuqua D.M. Wolf Molecular aspects of estrogen receptor variants in breast cancer Breast Cancer Res. Treat. 35 1995 233 241
33. A. Gast F. Neuschmid-Kaspar H. Klocker A.C. Cato A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome Mol. Cell Endocrinol. 111 1995 93 98
34. J.F. Gerbert N. Moghal J.V. Frangioni D.J. Sugarbaker B.G. Neel High frequency of retinoic acid receptor beta abnormalities in human lung cancer Oncogene 6 1991 1859 1868
35. S. Geley B.L. Hartmann M. Hala E.M. Strasser-Wozak K. Kapelari R. Kofler Resistance to glucocorticoid-induced apoptosis in human T-cell acute lymphoblastic leukemia CEM-CI cells is due to insufficient glucocorticoid receptor expresssion Cancer Res. 56 1996 5033 5038
36. J. Geradts J.Y. Chen E.K. Russell J.R. Yankaskas L. Nieves J.D. Minna Human lung cancer cell lines exhibit resistance to retinoic acid treatment Cell Growth Differ. 4 1993 799 809
37. O. Grandillon P. Jurdic B. Pain Expression of the v-erbA product, an altered nuclear hormone receptor, is sufficient to transform erythrocytic cells in vitro Cell 58 1989 115 121
38. E. Groenhout R.I. Dorm Generalized thyroid hormone resistance due to a deletion of the carboxy terminus of the c-erbA# receptor Mol. Cell. Endocr. 99 1994 81 88
39. F. Guidez W. Huang J.H. Tong Poor response to all-trans retinoic acid therapy in a t[11:17] PLZF-RARa patient Leukemia 8 1994 312 317
40. M. Hala B.L. Hartmann G. Bock S. Geley R. Kofler Glucocorticoid-receptor-gene defects and resistance to glucocorticoid-induced apoptosis in human leukemic cell lines Int. J. Cancer 68 1996 663 668
41. K. Heimdal T.I. Andersen M. Skrede S.D. Fossa K. Berg A.L. Borresen Association studies of estrogen receptor polymorphisms in a Norwegian testicular cancer population Cancer Epidemiol. Biomarkers Prev. 4 1995 123 126
42. S.M. Hollenberg R.M. Evans Multiple and cooperative trans-activation domains of the human glucocorticoid receptor Cell 55 1988 899 906
43. A. Hörlein A.M. Näär T. Heinzel Ligand-independent repression by the thyroid hormone receptor mediated by a nuclear receptor co-pressor Nature 377 1995 397 404
44. K.B. Horwitz How do breast cancers become hormone resistant? J. Steroid Biochem. Mol. Biol. 49 1994 295 302
45. B. Houle C. Rochette-Egly W.E. Bradley Tumour-suppressive effect of the retinoic acid receptor beta in human epidermoid lung cancer cells Proc. Natl. Acad. Sci. U.S.A. 90 1993 985 989
46. C. Hu S.M. Hyder D.S. Needleman V.V. Baker Expression of estrogen receptor variants in normal and neoplastic human uterus Mol. Cell. Endocrinol. 118 1996 173 179
47. M.R. Hughes P.J. Malloy D.G. Kieback Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets Science 242 1988 1702 1725
48. T. Iglesias S. Llanos M. Lopez-Barahona B. Seliger A. Rodriguez-Pena J. Bernal A. Munoz Induction of platelet-derived growth factor BJc-sis by the v-erbA oncogene in glial cells Oncogene 10 1995 1103 1110
49. M. Ito R. Yu J.L. Jameson DAX-1 inhibits SF-1-mediated trans-activation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita Mol. Cell Biol. 17 1997 1476 1483
50. M. Karl S.W. Lamberts J.W. Koper D.A. Katz N.E. Huizenga T. Kino B.R. Haddad M.R. Hughes G.P. Chrousos Cushing's disease preceded by generalized glucocorticoid resistance: clinical consequences of a novel, dominant-negative glucocorticoid receptor mutation Proc. Assoc. Am. Physicians 108 1996 296 307
51. M. Karl G. Von Wichert E. Kempter D.A. Katz M. Reincke H. Monig I.U. Ali C.A. Stratakis E.H. Oldfield G.P. Chrousos H.M. Schulte Nelson's syndrome associated with a somatic frame shift mutation in the glucocorticoid receptor gene J. Clin. Endocrinol. Metab. 81 1996 124 129
52. P.S. Karnik S. Kulkarni X.P. Liu G.T. Budd R.M. Bukowski Estrogen receptor mutations in tamoxifen-resistant breast cancer Cancer Res. 54 1994 349 353
53. F. Kaspar H. Klocker A. Denninger A.C. Cato A mutant androgen receptor from patients with Reifenstein syndrome: identification of the function of a conserved alanine residue in the D box of steroid receptors Mol. Cell Biol. 13 1993 7850 7858
54. G.B. Kletter J.L. Gorsky R.P. Keich Congenital adrenal hypoplasia and isolated gonadotropin deficiency Trends Endocrinol. Metab. 2 1991 123 128
55. H. Klocker Z. Culig A. Hobisch A.C. Cato G. Bartsch Androgen receptor alterations in prostatic carcinoma Prostate 25 1994 266 273
56. P.A. Komesaroff Pseudohypoaldosteronism: options for consideration Steroids 60 1995 168 172
57. P.A. Komesaroff K. Verity P.J. Fuller Pseudohypoaldosteronism: molecular characterization of the mineralocorticoid receptor J. Clin. Endocrinol. Metab. 79 1994 27 31
58. K. Kristjansson A.R. Rut M. Hewison J.L. O'Riordan M.R. Hughes Two mutations in the hormone binding domain of the vitamin D receptor cause tissue resistance to 1,25 dihdroxyvitamin D3 J. Clin. Invest. 92 1993 12 16
59. U. Kuhnle U. Keller D. Armanini J. Funder Z. Krozowski Immunofluorescence of mineralocorticoid receptors in peripheral lymphocytes: presence of receptor-like activity in patients with the amosomal dominant form of pseudohypoaldosteronism, and its absence in the recessive form J. Steroid Biochem. Mol. Biol. 51 1994 267 273
60. S.W. Lamberts J.W. Koper P. Biemond F.H. den Holder F.H. de Jong Cortisol receptor resistance: the variability of its clinical presentation and response to treatment J. Clin. Endocrinol. Metab. 74 1992 313 321
61. C. Lavau A. Dejean The t[15:17] translocation in acute promyelocytic leukemia Leukemia 8 1994 9 15
62. J-M. Lebel J.H. Dussault The thyroid and brain development Curr. Opin. in Endocrinol and Diabet 1 1994 167 174
63. S. Lehrer J. Rabin J. Stone G.S. Berkowitz Association of an estrogen receptor variant with increased stature in women Horm. Metab. Res. 26 1994 486 488
64. P. Lemieux S. Fuqua The role of the estrogen receptor in tumour progression J. Steroid Biochem. Mol. Biol. 56 1996 87 91
65. K.K. Leslie D.M. Tasset K.B. Horwitz Functional analysis of a mutant estrogen receptor isolated from T47D-co breast cancer cells Am. J. Obstet. Gynecol 166 1992 1053 1061
66. J.D. Licht C. Chomienne A. Goy Clinical and molecular characterization of a rare syndrome of acute promyelocytic leukemia associated with translocation (11:17) Blood 85 1995 1083 1094
67. J.D. Licht R. Shaknoviel M.A. English Reduced and altered DNA binding and transcriptional properties of the PLZF-retinoic acid receptor alpha chimera generated in t[11:17] associated acute promyelocytic leukemia Oncogene 12 1996 323 336
68. K.H. Lin X.G. Zhu H.Y. Shieh H.C. Hsu S.T. Chen P. McPhie S.Y. Cheng Identification of naturally occurring dominant negative mutants of thyroid hormone alpha 1 and beta 1 receptors in a human hepatocellular carcinoma cell line Endocrinology 137 1996 4073 4081
69. D.B. Lubahn T.R. Brown J.A. Simental Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutant in a family with complete androgen insensitivity Proc. Natl. Acad. Sci. U.S.A. 86 1989 9534 9538
70. J.P. Lynch D.S. Lala J.J. Peluso W. Luo K.L. Parker B.A. White Steroidogenic factor 1, an orphan nuclear receptor, regulates the expression of the rat aromatase gene in gonadal tissues Mol. Endocrinol. 7 1993 776 786
71. P.N. MacDonald D.R. Dowd S. Nakajima M.A. Galligan M.C. Reeder C.A. Haussler K. Ozato M.R. Haussler Retinoid X receptors stimulate and 9-cis retinoic acid inhibits 1,25-dihydroxyvitamin D3-activated expression of the rat osteocalcin gene Mal. Cell. Biol. 13 1993 5907 5917
72. H.E. MacLean G.L. Warne J.D. Zajac Defect of androgen receptor function from sexual reversal to motor neuron disease Mol. Cell. Endocrinol. 112 1995 133 141
73. H.E. MacLean G.L. Warne J.D. Zajac Spinal and bulbar muscular atrophy: androgen receptor dysfunction caused by a trinucleotide repeat expansion J. Neurol. Sci. 135 1996 149 157
74. S. Mader P. Chambon J.H. White Defining a minimal estrogen receptor DNA binding domain Nucleic Acids Res. 21 1993 1125 1132
75. D.M. Malchoff A. Brufsky G. Reardon P. McDermott E.C. Javier C-H. Bergh D. Rowe C.D. Malchoff A mutation of the glucocorticoid receptor in primary cortisol resistance J. Clan. Invest. 91 1993 1918 1925
76. D.J. Mangelsdorf R.M. Evans The RXR heterodimers and orphan receptors Cell 83 1995 841 850
77. D.J. Mangelsdorf C. Thummel M. Beato P. Herrlich G. Schütz K. Umesono B. Blumberg P. Kastner M. Mark P. Chambon R. Evans The nuclear receptor superfamily: the second decade Cell 83 1995 835 839
78. M. Marcelli W.D. Tilley C.M. Wilson Definition of the human androgen gene structure permits the identification of mutations that cause androgen resistance: premature termination of the receptor protein at amino acid residue 558 causes complete androgen resistance Mol. Endocrinol. 4 1990 1105 1116
79. M. Marcelli S. Zoppi P.B. Grino A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor positive androgen resistance J. Clin. Invest. 87 1991 1123 1126
80. V.A. McKusick Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive and X-linked Phenotypes 1988 John Hopkins University Press New York, Baltimore
81. M.J. McPhaul M. Marcelli W.D. Tilley Androgen resistance caused by mutations in the androgen receptor gene FASEB J. 5 1991 2910 2915
82. M.J. McPhaul M. Marcelli M.S. Zoppi J.E. Griffin J.D. Wilson Genetic basis of endocrine disease 4: the spectrum of mutations in the androgen receptor gene that cause androgen resistance J. Clin. Endocrinol. Metab. 76 1993 17 23
83. N. Moghal B.G. Neel Evidence for impaired retinoic acid receptor-thyroid hormone receptor AF-2 cofactor activity in human lung cancer Mol. Cell Biol. 15 1995 3945 3959
84. S. Mosseleman J. Polman R. Dijkema ER beta: identification and characterisation of a novel human estrogen receptor FEBS Lett 392 1996 49 53
85. F. Muscatelli T.M. Strom A.P. Walker E. Zanaria D. Recan A. Meindl B. Bardom S. Guioli G. Zehetner W. Rabl H.P. Schwarz J-K. Kaplan G. Camerino T. Meitinger A.P. Monaco Mutations in the DAXI gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism Nature 372 1994 672 676
86. F. Neuschmid-Kaspar A. Gast H. Peterziel J. Schneikert A. Muigg G. Ransmayr H. Klocker G. Bartsch A.C. Cato CAG-repeat expansion in androgen receptor in Kennedy's disease is not a loss of function mutation Mal. Cell Endocrinol. 117 1996 149 156
87. S. Ono I.D. Schwartz O.T. Mueller A.W. Root S.J. Usala B.B. Bercu Homozygosity for a dominant negative thyroid hormone receptor gene responsible for generalized resistance to thyroid hormone J. Clin. Endocrinol. Metab. 73 1991 990 994
88. M.G. Parker R. White Nuclear receptors spring into action Nature Struct. Biol. 3 1996 113 115
89. H. Peterziel Z. Culig J. Stober A. Hobisch C. Radmayr G. Bartsch H. Klocker A.C. Cato Mutant androgen receptors in prostatic tumours distinguish between amino-acid-sequence requirements for trans-activation and ligand binding Int. J. Cancer 63 1995 544 550
90. E. Petrangeli C. Lubrano F. Ortolani L. Ravenna A. Vacca S. Sciacchitano L. Frati A. Gulino Estrogen receptors: new perspectives in breast cancer management J. Steroid Bioehein. Mol. Biol. 49 1994 327 331
91. F.J. Piedrafita M.A. Ortiz M. Pfahl Thyroid hormone receptor-β mutants associated with generalized resistance to thyroid hormone show defects in their ligand-sensitive repression Mol. Endocrinol. 9 1995 1533 1548
92. J.H. Powers A.G. Hillmann D.C. Tang J.M. Harmon Cloning and expression of mutant glucocorticoid receptors from glucocorticoid-sensitive and -resistant human leukemic cells Cancer Res. 53 1993 4059 4065
93. C.A. Quigley K.J. Frieman A. Johnson Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of the carrier status J. Clin. Endocrinol. tYletab. 74 1992 927 933
94. R.L. Redner E.A. Rush S. Faas W.A. Rudert S.J. Corey The t[5:17] variant of acute promyelocytic leukemia expresses a nucleoplasmin-retinoic acid receptor fusion Blood 87 1996 882 886
95. S. Refetoff Resistance to thyroid hormone: an historical overview Thyroid 4 1994 345 349
96. S. Refetoff R.E. Weiss S.J. Usala The syndrome of resistance to thyroid hormone Endocr. Rev. 14 1993 348 399
97. C. Ris-Stalpers G.G.J.M. Kuiper P.W. Faber H-U. Schweikert H.C.J. van Rooij N.D. Zegers M.B. Hodgins H.J. deGenhart J. Trapman A.O. Brinkman Aberrant splicing of androgen receptor mRNA results in the synthesis of a nonfunctional receptor protein in a patient with androgen insensitivity Proc. Natl. Acad. Sci. U.S.A. 87 1990 866 870
98. A. Sakurai T. Miyamoto S. Refetoff L.J. Degroot Dominat negative transcriptional regulation by a mutant thryoid hormone receptor /3 in a family with generalized resistance to thyroid hormone Mot. Endocrinol. 4 1990 1988 1994
99. J. Sap A. Munoz K. Damm Y. Goldberg J. Ghysdael A. Lentz H. Beug B. Vennstrom The c-erbA protein is a high-affinity receptor for thyroid hormone Nature 324 1986 635 640
100. J.F. Savouret A. Bailly M. Misrahi C. Rauch G. Redeuilh A. Chauchereau E. Milgrom Characterization of the hormone response element involved in the regulation of the progesterone receptor gene EMBO J. 10 1991 1875 1883
101. M. Scharif M.L. Privalsky V-erbA oncogene function in neoplasia correlates with its ability to repress retinoic acid receptor action Cell 66 1991 885 893
102. W.R. Schwabe Transcriptional control: how nuclear receptors get turned on Curr. Biol. 6 1996 372 374
103. M. Shabahang R.R. Buras F. Davoodi L.M. Schumaker R.J. Nauta M.R. Uskokovic R.V. Brenner S.R. Evans Growth inhibition of HT-29 human colon cancer cells by analogues of 1,25-dihydroxyvitamin D3 Cancer Res. 54 1994 4057 4064
104. R.J. Skowronski D.M. Peehl D. Feldman Actions of vitamin D3, analogs on human prostate cancer cell lines: comparison with 1,25-dihydroxyvitamin D3 Endocrinology 136 1995 20 26
105. E.P. Smith Consequences of growth and pubertal development in disorders of the androgen and estrogen receptor Curr. Opin. in Endocrinol. and Diabet. 3 1996 95 100
106. E.P. Smith J. Boyd G.R. Frank H. Takahashi R.M. Cohen B. Specker T.C. Williams D.B. Lubahn K.S. Korach Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man N. Engl. J. Med. 331 16 1994 1056 1061
107. M. Stadler A. Chelbi M.K. Lix Transcriptional induction of the PML growth suppresser gene is induced by interferons and is mediated through an ISRE and GAS element Oncogene 11 1995 2565 2573
108. E.M. Strasser-Wozak R. Hattmannstorfer M. Hala B.L. Hartmann M. Fiegl S. Geley R. Kofler Splice site mutation in the glucocorticoid receptor gene causes resistance to glucocorticoid-induced apoptosis in a human acute leukemic cell line Cancer Res. 55 1995 348 353
109. H. Suzuki K. Akakura A. Komiya S. Aida S. Akimoto J. Shimazaki Codon 877 mutation in the androgen receptor gene in advanced prostate cancer: relation to antiandrogen withdrawal syndrome Prostate 29 1996 153 158
110. H. Takatsuki T. Umemura J. Nishimura H. Nawata Which progenitor is the target cell in the development of acute promyelocytic leukemia? Lek. Lymphoma 17 1995 251 254
111. K. Takeda A. Sakurai L.J. DeGroot S. Refetoff Recessive inheritance of thyroid hormone resistance caused by a complete deletion of the proteincoding region of the thyroid hormone receptor-beta gene J. Clin. Endocrinol. Metab. 74 1992 49 55
112. K.T. Tamai L. Monaco T.P. Alastalo E. Lalli M. Parvinen P. Sassone-Corsi Hormonal and developmental regulation of DAX-1 expression in Sertoli cells Mol. Endocrinol. 10 1996 1561 1569
113. M-E. Taplin G.J. Bubley T.D. Shuster M.E. Frantz A.E. Spooner G.K. Ogata H.N. Keer S.P. Balk Mutation of the androgen-receptor gene in metastatic androgen-independent prostate cancer N. Engl. J. Med. 332 1995 1393 1398
114. D. Tasset L. Tora C. Fromental E. Scheer P. Chambon Distinct classes of transcriptional activation domains function by different mechanisms Cell 62 1990 1177 1187
115. C.S. Thummel From embryogenesis to metamorphosis: the regulation and function of Drosophila nuclear receptor superfamily members Cell 83 1995 871 877
116. W.D. Tilley J.M. Bantel J.O. Aspinall R.E. Hall D.J. Horsfall Evidence for a novel mechanism of androgen resistance in the human prostate cancer cell line. PC-3 Steroids 60 1995 180 186
117. M. Trifiro B.L. Gottlieb L. Pinsky The 56,/58 kDa androgen-binding protein in male genital skin fibroblasts with a deleted androgen receptor gene Mot. Cell. Endo. 75 1991 37 47
118. S.J. Usala Molecular diagnosis and characterization of thyroid hormone resistance syndromes Thyroid 1 1991 361 367
119. S.J. Usala J.B. Menke T.L. Watson A homozygous deletion in the c-erbA f thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor Mot. Endocrinol. 5 1991 327 335
120. S.J. Usala S.E. Bale N. Gesundeit Tight linkage between the syndrome of generalized thyroid hormone resistance and the human c-erbA/3 gene Mot. Endocrinol. 2 1988 1217 1220
121. T. Vink-van Wijngaarden H.A. Pols C.J. Buurman G.J. van den Bemd L.C. Dorssers J.C. Birkenhager J.P. van Leeuwen Inhibition of breast cancer cell growth by combined treatment with vitamin D3 analogues and tamoxifen Cancer Res. 54 1994 5711 5717
122. D.K. Ways W. Qin P. Cook P.J. Parker J.B. Menke E. Hao A.M. Smith C. Jones J.M. Hershman M.E. Geffner F. Su H.H. Samuels S.J. Usala Dominant and nondominant negative c-erbA /31 receptors associated with thyroid hormone resistance syndromes augment 12-O-tetradecanoyl-phorbol-13acetate induction of the collagenase promoter and exhibit defective 3,4,3′-triiodotyronine-mediated repression Mot. Endo. 7 1993 1112 1120
123. A. Weber J. Toppari R.D. Harvey R.C. Klann N.J. Shaw A.T. Ricker K. Nanto-Salonen J.S. Bevan A.J. Clark Adrenocorticotropin receptor gene mutations in familial glucocorocoid deficiency: relationships with clinical features in four families J. Clin. Endocrinol. Metab. 80 1995 65 71
124. C. Weinberger C.C. Thompson E.S. Ong R. Lebo D.J. Gruol R.M. Evans The c-erbA gene encodes a thyroid hormone receptor Nature 324 1986 641 646
125. K. Weis S. Ramband Lavau Retinoic acid regulates aberrant nuclear localization of PMLRAR alpha in acute promyeloticytic leukemia cells Cell 76 1994 345 356
126. S. Werner M. Bronnegard Molecular basis of glucocorticoid-resistant syndromes Steroids 61 1996 216 221
127. S. Werner M. Thoren J-A. Gustafsson M. Bronnegard Glucocorticoid receptor abnormalities in fibroblasts from patients with idiopathic resistance to dexamethasone diagnosed when evaluated for adrenocortical disorders J. Clin. Endocrinol. Metab. 75 1992 1005 1009
128. G.K. Whitfield S.H. Selznick C.A. Haussler J.C. Hsieh M.A. Galligan P.W. Jurutka P.D. Thompson S.M. Lee J.E. Zerwekh M.R. Haussler Vitamin D receptors from patients with resistance to 1,25-Dihydroxyvitamin D3: point mutations confer reduced trans-activation in response to ligand and impaired interaction with the retinoid X receptor heterodimeric partner Mol. Endocrinol. 10 1996 1617 1631
129. R. Wooster J. Mangion R. Eeles S. Smith M. Dowsett D. Averill P. Barrett-Lee D.F. Easton B.A. Ponder M.R. Stratton A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome Nat. Genet. 2 1992 132 134
130. H. Yabushita M. Hirata M. Noguchi M. Nakanishi Vitamin D receptor in endometrial carcinoma and the differentiation-inducing effect of 1,25-dihydroxyvitamin D3 on endometrial carcinoma cell lines J. Obstet. Gmaecol. Res. 22 1996 529 539
131. S.M. Yoh V.K.K. Chatterjee M.L. Privalsky Thyroid hormone resistance syndrome manifests as an aberrant interaction between mutant T3 receptors and transcriptional corepressors Mol. Endo. 11 1997 470 480
132. E. Zanaria F. Muscatelli B. Bardoni T.M. Strom S. Guioli W. Guo E. Lalli C. Moser A.P. Walker E.R.B. McCabe T. Meitinger A.P. Monaco P. Sassone-Corsi G. Camerino An unusual member of the Inuclear hormone receptor superflimily responsible for X-linked adrenal hypoplasia congenita Nature 372 1994 635 641
133. M. Zenke A. Munoz J. Sap B. Vennstrom H. Beug V-erbA oncogene activation entails the toss of hormone-dependent regulator activity of c-erbA Cell 61 1990 1035 1049
134. Q.X. Zhang S.G. Hilsenbeck S.A. Fuqua A. Borg Multiple splicing variants of the estrogen receptor are present in individual human breast tumours J. Steroid. Biochem. Mol. Biol. 59 1996 251 260
135. S. Zoppi C.M. Wilson M.D. Harbison J.E. Griffin J.D. Wilson M.J. McPhaul M. Marcelli Complete testicular feminization caused by an aminoterminal truncation of the androgen receptor with downstream initiation J. Clin. Inrest. 91 1993 1105 1112