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203 related items for PubMed ID: 18202527

  • 1. Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone beta-subunit gene promoter activity.
    Okuhara K, Abe S, Kondo T, Fujita K, Koda N, Mochizuki H, Fujieda K, Tajima T.
    Endocr J; 2008 Mar; 55(1):97-103. PubMed ID: 18202527
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  • 2. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
    Muscatelli F, Strom TM, Walker AP, Zanaria E, Récan D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabl W.
    Nature; 1994 Dec 15; 372(6507):672-6. PubMed ID: 7990958
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  • 3. [Functional analysis of mutated DAX-1 gene in patients with X linked adrenal hypoplasia congenita complicated with hypogonadotropic hypogonadism using luteinizing hormone beta-subunit gene promotor].
    Okuhara K.
    Hokkaido Igaku Zasshi; 2004 Mar 15; 79(2):167-80. PubMed ID: 15101192
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  • 5. A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
    Wang J, Killinger DW, Hegele RA.
    J Investig Med; 1999 May 15; 47(5):232-5. PubMed ID: 10361383
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  • 6. Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production.
    Habiby RL, Boepple P, Nachtigall L, Sluss PM, Crowley WF, Jameson JL.
    J Clin Invest; 1996 Aug 15; 98(4):1055-62. PubMed ID: 8770879
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  • 7. The gene responsible for adrenal hypoplasia congenita, DAX-1, encodes a nuclear hormone receptor that defines a new class within the superfamily.
    Burris TP, Guo W, McCabe ER.
    Recent Prog Horm Res; 1996 Aug 15; 51():241-59; discussion 259-60. PubMed ID: 8701082
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  • 8. A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism.
    Tabarin A, Achermann JC, Recan D, Bex V, Bertagna X, Christin-Maitre S, Ito M, Jameson JL, Bouchard P.
    J Clin Invest; 2000 Feb 15; 105(3):321-8. PubMed ID: 10675358
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  • 9. Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism.
    Bassett JH, O'Halloran DJ, Williams GR, Beardwell CG, Shalet SM, Thakker RV.
    Clin Endocrinol (Oxf); 1999 Jan 15; 50(1):69-75. PubMed ID: 10341858
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  • 12. Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita.
    Reutens AT, Achermann JC, Ito M, Ito M, Gu WX, Habiby RL, Donohoue PA, Pang S, Hindmarsh PC, Jameson JL.
    J Clin Endocrinol Metab; 1999 Feb 15; 84(2):504-11. PubMed ID: 10022408
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  • 13. Repression of the rat steroidogenic acute regulatory (StAR) protein gene by PGF2alpha is modulated by the negative transcription factor DAX-1.
    Sandhoff TW, McLean MP.
    Endocrine; 1999 Feb 15; 10(1):83-91. PubMed ID: 10403575
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  • 14. X-linked adrenal hypoplasia congenita caused by a novel intronic mutation of the DAX-1 gene.
    Goto M, Katsumata N.
    Horm Res; 2009 Feb 15; 71(2):120-4. PubMed ID: 19129717
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  • 15. Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1.
    Salvi R, Gomez F, Fiaux M, Schorderet D, Jameson JL, Achermann JC, Gaillard RC, Pralong FP.
    J Clin Endocrinol Metab; 2002 Sep 15; 87(9):4094-100. PubMed ID: 12213854
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  • 17. Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita.
    Nakae J, Tajima T, Kusuda S, Kohda N, Okabe T, Shinohara N, Kato M, Murashita M, Mukai T, Imanaka K, Fujieda K.
    J Clin Endocrinol Metab; 1996 Oct 15; 81(10):3680-5. PubMed ID: 8855822
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  • 18. X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein.
    Lehmann SG, Lalli E, Sassone-Corsi P.
    Proc Natl Acad Sci U S A; 2002 Jun 11; 99(12):8225-30. PubMed ID: 12034880
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  • 19. Clinical and genetic analysis of a Korean patient with late-onset X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: identification of a novel mutation in the NR0B1 gene.
    Lee YW, Won JC, Ki CS, Lee HY, Ahn HS, Lee YK, Kim YH, Kim CH.
    J Int Med Res; 2008 Jun 11; 36(2):357-61. PubMed ID: 18380948
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  • 20. A case of X-linked adrenal hypoplasia congenita, central precocious puberty and absence of the DAX-1 gene: implications for pubertal regulation.
    Loke KY, Poh LK, Lee WW, Lai PS.
    Horm Res; 2009 Jun 11; 71(5):298-304. PubMed ID: 19339795
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