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Journal Abstract Search

221 related items for PubMed ID: 11353895

  • 1. Congenital adrenal hypoplasia and DAX-1 gene mutations.
    Tabarin A.
    Ann Endocrinol (Paris); 2001 Apr; 62(2):202-6. PubMed ID: 11353895
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  • 2. 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 Apr; 51():241-59; discussion 259-60. PubMed ID: 8701082
    [Abstract] [Full Text] [Related]

  • 3. 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; 84(2):504-11. PubMed ID: 10022408
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  • 5. 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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  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita.
    Ito M, Yu R, Jameson JL.
    Mol Cell Biol; 1997 Mar 15; 17(3):1476-83. PubMed ID: 9032275
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  • 8. Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
    Guo W, Burris TP, Zhang YH, Huang BL, Mason J, Copeland KC, Kupfer SR, Pagon RA, McCabe ER.
    J Clin Endocrinol Metab; 1996 Jul 15; 81(7):2481-6. PubMed ID: 8675564
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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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  • 11. Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene.
    Guo W, Mason JS, Stone CG, Morgan SA, Madu SI, Baldini A, Lindsay EA, Biesecker LG, Copeland KC, Horlick MN.
    JAMA; 1995 Jul 26; 274(4):324-30. PubMed ID: 7609262
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  • 14. Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.
    Phelan JK, McCabe ER.
    Hum Mutat; 2001 Dec 26; 18(6):472-87. PubMed ID: 11748841
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  • 15. [From gene to disease; congenital adrenal hypoplasia and the DAX-1 gene].
    Verrijn Stuart AA, de Vroede MA, Giltay JC.
    Ned Tijdschr Geneeskd; 2005 May 21; 149(21):1156-8. PubMed ID: 15940919
    [Abstract] [Full Text] [Related]

  • 16. Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.
    Achermann JC, Ito M, Silverman BL, Habiby RL, Pang S, Rosler A, Jameson JL.
    J Clin Endocrinol Metab; 2001 Jul 21; 86(7):3171-5. PubMed ID: 11443184
    [Abstract] [Full Text] [Related]

  • 17. [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 21; 79(2):167-80. PubMed ID: 15101192
    [No Abstract] [Full Text] [Related]

  • 18. DAX-1 gene mutations and deletions in Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
    Kinoshita E, Yoshimoto M, Motomura K, Kawaguchi T, Mori R, Baba T, Nishijo K, Hasegawa T, Momoi T, Yorihuji T.
    Horm Res; 1997 Mar 21; 48(1):29-34. PubMed ID: 9195207
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  • 19. DAX-1, an "antitestis" gene.
    Goodfellow PN, Camerino G.
    EXS; 2001 Mar 21; (91):57-69. PubMed ID: 11301600
    [Abstract] [Full Text] [Related]

  • 20. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita.
    Zanaria E, Muscatelli F, Bardoni B, Strom TM, Guioli S, Guo W, Lalli E, Moser C, Walker AP, McCabe ER.
    Nature; 1994 Dec 15; 372(6507):635-41. PubMed ID: 7990953
    [Abstract] [Full Text] [Related]

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