| 1 | ESRRB, NR0B1
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| Dax1 associates with Esrrb and regulates its function in embryonic stem cells.
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| Uranishi K, Akagi T, Sun C, Koide H, Yokota T.
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| Mol Cell Biol 33(10):2056-66. doi: 10.1128/MCB.01520-12. Epub 2013 Mar 18.
2013
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| 2 | NR0B1, NR1I3
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| The orphan nuclear receptor DAX-1 functions as a potent corepressor of the constitutive androstane receptor (NR1I3).
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| Laurenzana EM, Chen T, Kannuswamy M, Sell BE, Strom SC, Li Y, Omiecinski CJ.
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| Mol Pharmacol 82(5):918-28. doi: 10.1124/mol.112.080721. Epub 2012 Aug 15.
2012
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| 3 | NR0B1, NR1H4
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| DAX1 suppresses FXR transactivity as a novel co-repressor.
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| Li J, Lu Y, Liu R, Xiong X, Zhang Z, Zhang X, Ning G, Li X.
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| Biochem Biophys Res Commun 412(4):660-6. Epub 2011 Aug 12.
2011
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| 4 | NR0B1
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| DAX-1 and DAX-1A expression in human testicular tissues with primary spermatogenic failure.
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| Lardone MC, Parada-Bustamante A, Ebensperger M, Valdevenito R, Kakarieka E, Martínez D, Pommer R, Piottante A, Castro A.
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| Mol Hum Reprod 17(12):739-46. Epub 2011 Jul 20.
2011
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| 5 | NR0B1
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| Evidence of adrenal failure in aging Dax1-deficient mice.
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| Scheys JO, Heaton JH, Hammer GD.
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| Endocrinology 152(9):3430-9. Epub 2011 Jul 5.
2011
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| 6 | HHG, NR0B1
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| Hypogonadotropic hypogonadism in subjects with DAX1 mutations.
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| Jadhav U, Harris RM, Jameson JL.
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| Mol Cell Endocrinol 346(1-2):65-73. Epub 2011 Jun 13. Review.
2011
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| 7 | NR0B1, NR1H3
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| Orphan nuclear receptor DAX-1 acts as a novel corepressor of liver X receptor alpha and inhibits hepatic lipogenesis.
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| Nedumaran B, Kim GS, Hong S, Yoon YS, Kim YH, Lee CH, Lee YC, Koo SH, Choi HS.
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| J Biol Chem 285(12):9221-32. Epub 2010 Jan 15.
2010
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| 8 | DAX1, NR0B1, SRA1
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| Dax-1 and steroid receptor RNA activator (SRA) function as transcriptional coactivators for steroidogenic factor 1 in steroidogenesis.
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| Xu B, Yang WH, Gerin I, Hu CD, Hammer GD, Koenig RJ.
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| Mol Cell Biol. 29(7):1719-34 2009
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| 9 | AHC, NR0B1
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| A novel mutation in DAX1 (NR0B1) causing X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis.
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| García-Malpartida K, Gómez-Balaguer M, Solá-Izquierdo E, Fuentes-Pardilla MJ, Jover-Fernández A, Sanz-Ruiz I, Hernández-Mijares A.
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| Endocrine 36(2):275-80. Epub 2009 Aug 12.
2009
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| 10 | DSS, DUPXP, NR0B1
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| Sex reversal from functional disomy of Xp: prenatal and post-mortem findings.
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| Piccione M, Maresi E, Zollino M, Sanfilippo C, Seminara L, Neri G, Corsello G.
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| Am J Med Genet A 146A(20):2681-7.
2008
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| 11 | DSS, SRA, SRA2, SRA3, NR0B1, SRD5A2, PPSH
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| Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis.
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| Barbaro M, Cicognani A, Balsamo A, Lšfgren A, Baldazzi L, Wedell A, Oscarson M.
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| Clin Genet 73(5):453-64. Epub 2008 Apr 2. 2008
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| 12 | NR0B1, PPARG
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| The orphan nuclear receptor DAX-1 acts as a novel transcriptional corepressor of PPARgamma.
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| Kim GS, Lee GY, Nedumaran B, Park YY, Kim KT, Park SC, Lee YC, Kim JB, Choi HS.
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| Biochem Biophys Res Commun 370(2):264-8. Epub 2008 Mar 31.
2008
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| 13 | NR0B1, NR5A2
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| The structure of corepressor Dax-1 bound to its target nuclear receptor LRH-1.
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| Sablin EP, Woods A, Krylova IN, Hwang P, Ingraham HA, Fletterick RJ.
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| Proc Natl Acad Sci U S A 105(47):18390-5. Epub 2008 Nov 17.
2008
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| 14 | AMH, NR0B1, NR5A1, SOX9
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| Up-regulation of SOX9 in human sex-determining region on the Y chromosome (SRY)-negative XX males.
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| Kojima Y, Hayashi Y, Mizuno K, Sasaki S, Fukui Y, Koopman P, Morohashi K, Kohri K.
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| Clin Endocrinol (Oxf) 68(5):791-9. Epub 2007 Nov 6.PMID: 17986281 2008
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| 15 | NR0B1, AHC
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| An Amino-Terminal DAX1 (NROB1) Missense Mutation Associated with Isolated Mineralocorticoid Deficiency.
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| Verrijn Stuart AA, Ozisik G, de Vroede MA, Giltay JC, Sinke RJ, Peterson TJ, Harris RM, Weiss J, Jameson JL.
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| J Clin Endocrinol Metab 92(3):755-61. Epub 2006 Dec 12. 2007
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| 16 | DSS,NR0B1
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| Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).
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| Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, Lupski JR, Cheung SW, Stankiewicz P.
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| Hum Genet 122(1):63-70. Epub 2007 May 15. 2007
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| 17 | DUPXP, NR0B1
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| Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.
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| Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, Wedell A.
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| J Clin Endocrinol Metab 92(8):3305-13. Epub 2007 May 15. 2007
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| 18 | PPKSR, SRY, SOX9, NR0B1, DSS, GDXY, SRA, SRA2,SRA3
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| Sex determination and sex reversal.
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| Camerino G, Parma P, Radi O, Valentini S.
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| Curr Opin Genet Dev 16(3):289-92. Epub 2006 May 2. Review. 2006
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| 19 | NR0B1, NR5A1, SRA3, DSS
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| Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
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| Lin L, Gu WX, Ozisik G, To WS, Owen CJ, Jameson JL, Achermann JC.
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| J Clin Endocrinol Metab 91(8):3048-54. Epub 2006 May 9. 2006
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| 20 | IMAGE,NR0B1
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| Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review.
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| Tan TY, Jameson JL, Campbell PE, Ekert PG, Zacharin M, Savarirayan R.
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| Am J Med Genet A 140(16):1778-84. 2006
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| 21 | NR0B1, AHC
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| DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients.
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| Mantovani G, De Menis E, Borretta G, Radetti G, Bondioni S, Spada A, Persani L, Beck-Peccoz P.
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| Eur J Endocrinol 154(5):685-9. 2006
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| 22 | NR0B1
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| NR0B1 is required for the oncogenic phenotype mediated by EWS/FLI in Ewing's sarcoma.
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| Kinsey M, Smith R, Lessnick SL.
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| Mol Cancer Res 4(11):851-9.
2006
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| 23 | DAX1, NR0B1
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| Reciprocal regulation of a glucocorticoid receptor-steroidogenic factor-1 transcription complex on the Dax-1 promoter by glucocorticoids and adrenocorticotropic hormone in the adrenal cortex.
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| Gummow BM, Scheys JO, Cancelli VR, Hammer GD.
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| Mol Endocrinol. 20(11):2711-23 2006
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| 24 | NR0B1, AHC
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| A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism.
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| Balsamo A, Antelli A, Baldazzi L, Baronio F, Lazareva D, Cassio A, Cicognani A.
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| Am J Med Genet A 135(3):292-6. 2005
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| 25 | NR0B1, NR5A2
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| Modulation of human nuclear receptor LRH-1 activity by phospholipids and SHP.
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| Ortlund EA, Lee Y, Solomon IH, Hager JM, Safi R, Choi Y, Guan Z, Tripathy A, Raetz CR, McDonnell DP, Moore DD, Redinbo MR.
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| Nat Struct Mol Biol 12(4):357-63. Epub 2005 Feb 22. 2005
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| 26 | NR0B1, DSS, AHC
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| DAX1 origin, function, and novel role.
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| Niakan KK, McCabe ER.
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| Mol Genet Metab 86(1-2):70-83. Review. 2005
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| 27 | IMAGE,NR0B1
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| Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance.
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| Bergada I, Del Rey G, Lapunzina P, Bergada C, Fellous M, Copelli S.
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| J Clin Endocrinol Metab 90(6):3186-90. Epub 2005 Mar 15. Review. 2005
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| 28 | NR0B1, NR5A1, DSS, AHC
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| Molecular mechanisms of DAX1 action.
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| Iyer AK, McCabe ER.
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| Mol Genet Metab 83(1-2):60-73. 2004
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| 29 | NR0B1
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| NR0B1A: an alternatively spliced form of NR0B1.
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| Ho J, Zhang YH, Huang BL, McCabe ER.
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| Mol Genet Metab 83(4):330-6. 2004
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| 30 | NR0B1, DSS
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| Sex determination: a 'window' of DAX1 activity.
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| Ludbrook LM, Harley VR.
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| Trends Endocrinol Metab 15(3):116-21. Review. 2004
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| 31 | PPKSR, SRY, SOX9, NR0B1, DSS, GDXY, SRA, SRA2, SRA3
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| One tissue, two fates: molecular genetic events that underlie testis versus ovary development.
|
| Brennan J, Capel B.
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| Nat Rev Genet 5(7):509-21. Review. No abstract available. 2004
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| 32 | IMAGE,NR0B1
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| IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development.
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| Pedreira CC, Savarirayan R, Zacharin MR.
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| J Pediatr 144(2):274-7. 2004
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| 33 | NR0B1
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| Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients.
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| Lehmann SG, Wurtz JM, Renaud JP, Sassone-Corsi P, Lalli E.
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| Hum Mol Genet 12(9):1063-72. 2003
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| 34 | NR0B1, NR5A1
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| Down-regulation of steroidogenic response to gonadotropins in human and rat preovulatory granulosa cells involves mitogen-activated protein kinase activation and modulation of DAX-1 and steroidogenic factor-1.
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| Tajima K, Dantes A, Yao Z, Sorokina K, Kotsuji F, Seger R, Amsterdam A.
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| J Clin Endocrinol Metab 88(5):2288-99. 2003
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| 35 | NR0B1, NR2F2, NR5A1
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| Immunolocalization of nuclear transcription factors, DAX-1 and COUP-TF II, in the normal human ovary: correlation with adrenal 4 binding protein/steroidogenic factor-1 immunolocalization during the menstrual cycle.
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| Sato Y, Suzuki T, Hidaka K, Sato H, Ito K, Ito S, Sasano H.
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| J Clin Endocrinol Metab 88(7):3415-20. 2003
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| 36 | CYP11A1, CYP11B1, CYP11B2, CYP17A1D, CYP19A1, GATA4, NR0B1, NR2F1, NR2F2, NR5A1, PCNA, COPS2
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| DAX1 and its network partners: exploring complexity in development.
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| Clipsham R, McCabe ER.
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| Mol Genet Metab 80(1-2):81-120. 2003
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| 37 | IL1RAPL1, NR0B1
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| Mental retardation in a boy with congenital adrenal hypoplasia: a clue to contiguous gene syndrome involving DAX1 and IL1RAPL.
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| Sasaki R, Inamo Y, Saitoh K, Hasegawa T, Kinoshita E, Ogata T.
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| Endocr J 50(3):303-7. 2003
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| 38 | NR0B1
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| DAX-1, an unusual orphan receptor at the crossroads of steroidogenic function and sexual differentiation.
|
| Lalli E, Sassone-Corsi P.
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| Mol Endocrinol 17(8):1445-53. Epub 2003 May 29. Review. 2003
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| 39 | DAX1, NR0B1
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| Dax1 is required for testis determination
|
| Meeks, J. J.; Weiss, J.; Jameson, J. L.
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| Nature Genet. 34: 32-33 2003
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| 40 | DAX1, NR0B1
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| Dax-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1) gene transcription is regulated by wnt4 in the female developing gonad.
|
| Mol Endocrinol.
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| Mol Endocrinol. 17(4):507-19 2003
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| 41 | NR0B1
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| X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein.
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| Lehmann SG, Lalli E, Sassone-Corsi P.
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| Proc Natl Acad Sci U S A 99(12):8225-30. 2002
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| 42 | NR0B1
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| Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.
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| Zhang YH, Huang BL, Anyane-Yeboa K, Carvalho JA, Clemons RD, Cole T, De Figueiredo BC, Lubinsky M, Metzger DL, Quadrelli R, Repaske DR, Reyno S, Seaver LH, Vaglio A, Van Vliet G, McCabe LL, McCabe ER, Phelan JK.
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| Hum Mutat 18(6):547. 2001
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| 43 | AHC, NR0B1
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| Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.
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| Achermann JC, Ito M, Silverman BL, Habiby RL, Pang S, Rosler A, Jameson JL.
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| J Clin Endocrinol Metab 86(7):3171-5. 2001
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| 44 | NR0B1, NR5A1
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| Transcriptional regulators of steroidogenesis, DAX-1 and SF-1, are expressed in human skin.
|
| Patel MV, McKay IA, Burrin JM.
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| J Invest Dermatol 117(6):1559-65. 2001
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| 45 | NR0B1, NR5A1, DSS, AHC, NR5A1, SRA3
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| Phenotypic spectrum of mutations in DAX-1 and SF-1.
|
| Achermann JC, Meeks JJ, Jameson JL.
|
| Mol Cell Endocrinol 185(1-2):17-25. Review. 2001
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| 46 | NR0B1
|
| Interaction of the corepressor Alien with DAX-1 is abrogated by mutations of DAX-1 involved in adrenal hypoplasia congenita.
|
| Altincicek B, Tenbaum SP, Dressel U, Thormeyer D, Renkawitz R, Baniahmad A.
|
| J Biol Chem 275(11):7662-7. 2000
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| 47 | DAX1, NR0B1
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| Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA
|
| Lalli, E.; Ohe, K.; Hindelang, C.; Sassone-Corsi, P.
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| Molec. Cell. Biol. 20: 4910-4921 2000
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| 48 | NR0B1, NR5A1
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| Dax-1 as one of the target genes of Ad4BP/SF-1.
|
| Kawabe K, Shikayama T, Tsuboi H, Oka S, Oba K, Yanase T, Nawata H, Morohashi K.
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| Mol Endocrinol 13(8):1267-84 1999
|
| 49 | AHC, NR0B1
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| Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay.
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| Achermann JC, Gu WX, Kotlar TJ, Meeks JJ, Sabacan LP, Seminara SB, Habiby RL, Hindmarsh PC, Bick DP, Sherins RJ, Crowley WF Jr, Layman LC, Jameson JL.
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| J Clin Endocrinol Metab 84(12):4497-500. 1999
|
| 50 | AHC, NR0B1
|
| Combined hypothalamic-pituitary-gonadal defect in a hypogonadic man with a novel mutation in the DAX-1 gene.
|
| Caron P, Imbeaud S, Bennet A, Plantavid M, Camerino G, Rochiccioli P.
|
| J Clin Endocrinol Metab 84(10):3563-9. 1999
|
| 51 | NR0B2, DSS, SRY, NR0B1
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| Dax1 antagonizes Sry action in mammalian sex determination.
|
| Swain A, Narvaez V, Burgoyne P, Camerino G, Lovell-Badge R.
|
| Nature 391(6669):761-7. 1998
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| 52 | DAX1, NR0B1
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| DAX-1 expression in human adrenocortical neoplasms: implications for steroidogenesis
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| Reincke, M.; Beuschlein, F.; Lalli, E.; Arlt, W.; Vay, S.; Sassone-Corsi, P.; Allolio, B.
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| J. Clin. Endocr. Metab. 83: 2597-2600 1998
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| 53 | AHC, DAX1, NR0B1, NR0B2, STAR
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| DNA binding and transcriptional repression by DAX-1 blocks steroidogenesis.
|
| Zazopoulos E, Lalli E, Stocco DM, Sassone-Corsi P.
|
| Nature 390(6657):311-5. 1997
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| 54 | DAX1, NR0B1
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| Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function
|
| Swain, A.; Zanaria, E.; Hacker, A.; Lovell-Badge, R.; Camerino, G.
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| Nature Genet. 12: 404-409 1996
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| 55 | DAX1, NR0B1
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| Hormonal and developmental regulation of DAX-1 expression in Sertoli cells
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| Tamai, K. T.; Monaco, L.; Alastalo, T.-P.; Lalli, E.; Parvinen, M.; Sassone-Corsi, P.
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| Molec. Endocr. 10: 1561-1569 1996
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| 56 | DAX1, NR0B1
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| Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis
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| Guo, W.; Burris, T. P.; McCabe, E. R. B.
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| Biochem. Molec. Med. 56: 8-13 1995
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| 57 | DAX1, NR0B1
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| An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
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| Zanaria, E.; Muscatelli, F.; Bardoni, B.; Strom, T. M.; Guioli, S.; Guo, W.; Lalli, E.; Moser, C.; Walker, A. P.; McCabe, E. R. B.; Meitinger, T.; Monaco, A. P.; Sassone-Corsi, P.; Camerino, G.
|
| Nature 372: 635-641 1994
|
| 58 | DAX1, NR0B1
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| Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
|
| Muscatelli, F.; Strom, T. M.; Walker, A. P.; Zanaria, E.; Recan, D.; Meindl, A.; Bardoni, B.; Guioli, S.; Zehetner, G.; Rabl, W.; Schwarz, H. P.; Kaplan, J.-C.; Camerino, G.; Meitinger, T.; Monaco, A. P.
|
| Nature 372: 672-676 1994
|