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Items: 1 to 20 of 104

1.

Evidence of adrenal failure in aging Dax1-deficient mice.

Scheys JO, Heaton JH, Hammer GD.

Endocrinology. 2011 Sep;152(9):3430-9. doi: 10.1210/en.2010-0986. Epub 2011 Jul 5.

2.

Molecular mechanisms of DAX1 action.

Iyer AK, McCabe ER.

Mol Genet Metab. 2004 Sep-Oct;83(1-2):60-73. Review.

PMID:
15464421
3.

Seven novel DAX1 mutations with loss of function identified in Chinese patients with congenital adrenal hypoplasia.

Li N, Liu R, Zhang H, Yang J, Sun S, Zhang M, Liu Y, Lu Y, Wang W, Mu Y, Ning G, Li X.

J Clin Endocrinol Metab. 2010 Sep;95(9):E104-11. doi: 10.1210/jc.2009-2408. Epub 2010 Jun 23.

PMID:
20573681
4.

DAX1 origin, function, and novel role.

Niakan KK, McCabe ER.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):70-83. Review.

PMID:
16146703
5.

Hypogonadotropic hypogonadism in subjects with DAX1 mutations.

Jadhav U, Harris RM, Jameson JL.

Mol Cell Endocrinol. 2011 Oct 22;346(1-2):65-73. doi: 10.1016/j.mce.2011.04.017. Epub 2011 Jun 13. Review.

6.

Phenotypic spectrum of mutations in DAX-1 and SF-1.

Achermann JC, Meeks JJ, Jameson JL.

Mol Cell Endocrinol. 2001 Dec 20;185(1-2):17-25. Review.

PMID:
11738790
7.

DAX1 and its network partners: exploring complexity in development.

Clipsham R, McCabe ER.

Mol Genet Metab. 2003 Sep-Oct;80(1-2):81-120. Review.

PMID:
14567960
8.

Interaction between Dax-1 and steroidogenic factor-1 in vivo: increased adrenal responsiveness to ACTH in the absence of Dax-1.

Babu PS, Bavers DL, Beuschlein F, Shah S, Jeffs B, Jameson JL, Hammer GD.

Endocrinology. 2002 Feb;143(2):665-73.

PMID:
11796523
9.

X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Identification and in vitro study of a novel small indel in the NR0B1 gene.

Yu T, Wang J, Yu Y, Huang X, Fu Q, Shen Y, Chen F.

Mol Med Rep. 2016 May;13(5):4039-45. doi: 10.3892/mmr.2016.5006. Epub 2016 Mar 18.

PMID:
27035099
10.
11.

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;86(7):3171-5.

PMID:
11443184
12.

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;50(1):69-75.

PMID:
10341858
13.

Role of phosphorylation, gene dosage and Dax-1 in SF-1 mediated steroidogenesis.

Babu PS, Bavers DL, Shah S, Hammer GD.

Endocr Res. 2000 Nov;26(4):985-94.

PMID:
11196480
14.

DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients.

Mantovani G, De Menis E, Borretta G, Radetti G, Bondioni S, Spada A, Persani L, Beck-Peccoz P.

Eur J Endocrinol. 2006 May;154(5):685-9.

15.

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;105(3):321-8.

16.

A phenotypic spectrum of sexual development in Dax1 (Nr0b1)-deficient mice: consequence of the C57BL/6J strain on sex determination.

Park SY, Lee EJ, Emge D, Jahn CL, Jameson JL.

Biol Reprod. 2008 Dec;79(6):1038-45. doi: 10.1095/biolreprod.108.069492. Epub 2008 Jul 16.

17.

DAX1 regulatory networks unveil conserved and potentially new functions.

Martins RS, Power DM, Fuentes J, Deloffre LA, Canário AV.

Gene. 2013 Nov 1;530(1):66-74. doi: 10.1016/j.gene.2013.07.052. Epub 2013 Aug 14.

PMID:
23954228
18.

Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene.

Guo W, Mason JS, Stone CG Jr, Morgan SA, Madu SI, Baldini A, Lindsay EA, Biesecker LG, Copeland KC, Horlick MN, et al.

JAMA. 1995 Jul 26;274(4):324-30.

PMID:
7609262
19.

CRISPR/Cas9-mediated Dax1 knockout in the monkey recapitulates human AHC-HH.

Kang Y, Zheng B, Shen B, Chen Y, Wang L, Wang J, Niu Y, Cui Y, Zhou J, Wang H, Guo X, Hu B, Zhou Q, Sha J, Ji W, Huang X.

Hum Mol Genet. 2015 Dec 20;24(25):7255-64. doi: 10.1093/hmg/ddv425. Epub 2015 Oct 13.

PMID:
26464492
20.

Excess DAX1 leads to XY ovotesticular disorder of sex development (DSD) in mice by inhibiting steroidogenic factor-1 (SF1) activation of the testis enhancer of SRY-box-9 (Sox9).

Ludbrook LM, Bernard P, Bagheri-Fam S, Ryan J, Sekido R, Wilhelm D, Lovell-Badge R, Harley VR.

Endocrinology. 2012 Apr;153(4):1948-58. doi: 10.1210/en.2011-1428. Epub 2012 Jan 31.

PMID:
22294746

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