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Items: 1 to 20 of 34

1.

FOXL2 Is an Essential Activator of SF-1-Induced Transcriptional Regulation of Anti-Müllerian Hormone in Human Granulosa Cells.

Jin H, Won M, Park SE, Lee S, Park M, Bae J.

PLoS One. 2016 Jul 14;11(7):e0159112. doi: 10.1371/journal.pone.0159112. eCollection 2016.

2.

Steroidogenic factor 1 differentially regulates fetal and adult leydig cell development in male mice.

Karpova T, Ravichandiran K, Insisienmay L, Rice D, Agbor V, Heckert LL.

Biol Reprod. 2015 Oct;93(4):83. doi: 10.1095/biolreprod.115.131193. Epub 2015 Aug 12.

3.

Regulation of male sex determination: genital ridge formation and Sry activation in mice.

Tanaka SS, Nishinakamura R.

Cell Mol Life Sci. 2014 Dec;71(24):4781-802. doi: 10.1007/s00018-014-1703-3. Epub 2014 Aug 20. Review.

4.

Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene.

Bhagavath B, Layman LC, Ullmann R, Shen Y, Ha K, Rehman K, Looney S, McDonough PG, Kim HG, Carr BR.

Mol Cell Endocrinol. 2014 Aug 5;393(1-2):1-7. doi: 10.1016/j.mce.2014.05.006. Epub 2014 Jun 4.

5.

Swyer's Syndrome: In a Fifty-Year-Old Female.

Culha C, Ozkaya M, Serter R, Sahin I, Aydin B, Aral Y.

J Obstet Gynaecol India. 2012 Oct;62(5):571-4. doi: 10.1007/s13224-011-0100-1. Epub 2012 Jan 17. No abstract available.

6.

46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1.

Brandt T, Blanchard L, Desai K, Nimkarn S, Cohen N, Edelmann L, Mehta L.

Eur J Med Genet. 2013 Nov;56(11):619-23. doi: 10.1016/j.ejmg.2013.09.006. Epub 2013 Sep 20.

7.

Inherited human sex reversal due to impaired nucleocytoplasmic trafficking of SRY defines a male transcriptional threshold.

Chen YS, Racca JD, Phillips NB, Weiss MA.

Proc Natl Acad Sci U S A. 2013 Sep 17;110(38):E3567-76. doi: 10.1073/pnas.1300828110. Epub 2013 Sep 3.

8.

Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.

Harrison SM, Campbell IM, Keays M, Granberg CF, Villanueva C, Tannin G, Zinn AR, Castrillon DH, Shaw CA, Stankiewicz P, Baker LA.

Am J Med Genet A. 2013 Oct;161A(10):2487-94. doi: 10.1002/ajmg.a.36084. Epub 2013 Aug 5.

9.

Integrative analysis of SF-1 transcription factor dosage impact on genome-wide binding and gene expression regulation.

Doghman M, Figueiredo BC, Volante M, Papotti M, Lalli E.

Nucleic Acids Res. 2013 Oct;41(19):8896-907. doi: 10.1093/nar/gkt658. Epub 2013 Aug 1.

10.

The molecular and cellular basis of gonadal sex reversal in mice and humans.

Warr N, Greenfield A.

Wiley Interdiscip Rev Dev Biol. 2012 Jul-Aug;1(4):559-77. doi: 10.1002/wdev.42. Epub 2012 Feb 28. Review.

11.

Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.

Reisch N, Idkowiak J, Hughes BA, Ivison HE, Abdul-Rahman OA, Hendon LG, Olney AH, Nielsen S, Harrison R, Blair EM, Dhir V, Krone N, Shackleton CH, Arlt W.

J Clin Endocrinol Metab. 2013 Mar;98(3):E528-36. doi: 10.1210/jc.2012-3449. Epub 2013 Jan 30.

12.

A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development.

Wu JY, McGown IN, Lin L, Achermann JC, Harris M, Cowley DM, Aftimos S, Neville KA, Choong CS, Cotterill AM.

Clin Endocrinol (Oxf). 2013 Apr;78(4):545-50. doi: 10.1111/cen.12012.

13.

Sex reversal in C57BL/6J XY mice caused by increased expression of ovarian genes and insufficient activation of the testis determining pathway.

Correa SM, Washburn LL, Kahlon RS, Musson MC, Bouma GJ, Eicher EM, Albrecht KH.

PLoS Genet. 2012;8(4):e1002569. doi: 10.1371/journal.pgen.1002569. Epub 2012 Apr 5.

14.

Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.

Kalfa N, Fukami M, Philibert P, Audran F, Pienkowski C, Weill J, Pinto G, Manouvrier S, Polak M, Ogata T, Sultan C.

PLoS One. 2012;7(3):e32505. doi: 10.1371/journal.pone.0032505. Epub 2012 Mar 30.

15.

Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.

Tantawy S, Lin L, Akkurt I, Borck G, Klingmüller D, Hauffa BP, Krude H, Biebermann H, Achermann JC, Köhler B.

Eur J Endocrinol. 2012 Jul;167(1):125-30. doi: 10.1530/EJE-11-0944. Epub 2012 Apr 3.

16.

Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.

Allali S, Muller JB, Brauner R, Lourenço D, Boudjenah R, Karageorgou V, Trivin C, Lottmann H, Lortat-Jacob S, Nihoul-Fékété C, De Dreuzy O, McElreavey K, Bashamboo A.

PLoS One. 2011;6(10):e24117. doi: 10.1371/journal.pone.0024117. Epub 2011 Oct 20.

17.

Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.

Knower KC, Kelly S, Ludbrook LM, Bagheri-Fam S, Sim H, Bernard P, Sekido R, Lovell-Badge R, Harley VR.

PLoS One. 2011 Mar 11;6(3):e17751. doi: 10.1371/journal.pone.0017751.

18.

Identification of SOX3 as an XX male sex reversal gene in mice and humans.

Sutton E, Hughes J, White S, Sekido R, Tan J, Arboleda V, Rogers N, Knower K, Rowley L, Eyre H, Rizzoti K, McAninch D, Goncalves J, Slee J, Turbitt E, Bruno D, Bengtsson H, Harley V, Vilain E, Sinclair A, Lovell-Badge R, Thomas P.

J Clin Invest. 2011 Jan;121(1):328-41. doi: 10.1172/JCI42580. Epub 2010 Dec 22.

19.

Contributions of steroidogenic factor 1 to the transcription landscape of Y1 mouse adrenocortical tumor cells.

Schimmer BP, Tsao J, Cordova M, Mostafavi S, Morris Q, Scheys JO.

Mol Cell Endocrinol. 2011 Apr 10;336(1-2):85-91. doi: 10.1016/j.mce.2010.11.024. Epub 2010 Nov 25.

20.

Steroidogenic factor-1 (SF-1, NR5A1) and human disease.

Ferraz-de-Souza B, Lin L, Achermann JC.

Mol Cell Endocrinol. 2011 Apr 10;336(1-2):198-205. doi: 10.1016/j.mce.2010.11.006. Epub 2010 Nov 13. Review.

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