Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 101


A clinical algorithm to diagnose differences of sex development.

León NY, Reyes AP, Harley VR.

Lancet Diabetes Endocrinol. 2019 Feb 22. pii: S2213-8587(18)30339-5. doi: 10.1016/S2213-8587(18)30339-5. [Epub ahead of print] Review. Erratum in: Lancet Diabetes Endocrinol. 2019 Mar 7;:.


Genetic Link Between Gender Dysphoria and Sex Hormone Signaling.

Foreman M, Hare L, York K, Balakrishnan K, Sánchez FJ, Harte F, Erasmus J, Vilain E, Harley VR.

J Clin Endocrinol Metab. 2019 Feb 1;104(2):390-396. doi: 10.1210/jc.2018-01105.


Peptidyl arginine deiminase 2 (Padi2) is expressed in Sertoli cells in a specific manner and regulated by SOX9 during testicular development.

Tsuji-Hosokawa A, Kashimada K, Kato T, Ogawa Y, Nomura R, Takasawa K, Lavery R, Coschiera A, Schlessinger D, Harley VR, Takada S, Morio T.

Sci Rep. 2018 Sep 5;8(1):13263. doi: 10.1038/s41598-018-31376-8.


Retinoic Acid Antagonizes Testis Development in Mice.

Bowles J, Feng CW, Ineson J, Miles K, Spiller CM, Harley VR, Sinclair AH, Koopman P.

Cell Rep. 2018 Jul 31;24(5):1330-1341. doi: 10.1016/j.celrep.2018.06.111.


Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer.

Sreenivasan R, Ludbrook L, Fisher B, Declosmenil F, Knower KC, Croft B, Bird AD, Ryan J, Bashamboo A, Sinclair AH, Koopman P, McElreavey K, Poulat F, Harley VR.

Hum Mutat. 2018 Dec;39(12):1861-1874. doi: 10.1002/humu.23603. Epub 2018 Aug 22.


Testis Determination Requires a Specific FGFR2 Isoform to Repress FOXL2.

Bagheri-Fam S, Bird AD, Zhao L, Ryan JM, Yong M, Wilhelm D, Koopman P, Eswarakumar VP, Harley VR.

Endocrinology. 2017 Nov 1;158(11):3832-3843. doi: 10.1210/en.2017-00674.


In mammalian foetal testes, SOX9 regulates expression of its target genes by binding to genomic regions with conserved signatures.

Rahmoun M, Lavery R, Laurent-Chaballier S, Bellora N, Philip GK, Rossitto M, Symon A, Pailhoux E, Cammas F, Chung J, Bagheri-Fam S, Murphy M, Bardwell V, Zarkower D, Boizet-Bonhoure B, Clair P, Harley VR, Poulat F.

Nucleic Acids Res. 2017 Jul 7;45(12):7191-7211. doi: 10.1093/nar/gkx328.


FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

Bagheri-Fam S, Ono M, Li L, Zhao L, Ryan J, Lai R, Katsura Y, Rossello FJ, Koopman P, Scherer G, Bartsch O, Eswarakumar JV, Harley VR.

Hum Mol Genet. 2015 Dec 1;24(23):6699-710. doi: 10.1093/hmg/ddv374. Epub 2015 Sep 11.


Purification and Transcriptomic Analysis of Mouse Fetal Leydig Cells Reveals Candidate Genes for Specification of Gonadal Steroidogenic Cells.

McClelland KS, Bell K, Larney C, Harley VR, Sinclair AH, Oshlack A, Koopman P, Bowles J.

Biol Reprod. 2015 Jun;92(6):145. doi: 10.1095/biolreprod.115.128918. Epub 2015 Apr 8.


Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1.

Eggers S, Smith KR, Bahlo M, Looijenga LH, Drop SL, Juniarto ZA, Harley VR, Koopman P, Faradz SM, Sinclair AH.

Eur J Hum Genet. 2015 Apr;23(4):486-93. doi: 10.1038/ejhg.2014.130. Epub 2014 Aug 6.


Transient neuroprotection by SRY upregulation in dopamine cells following injury in males.

Czech DP, Lee J, Correia J, Loke H, Möller EK, Harley VR.

Endocrinology. 2014 Jul;155(7):2602-12. doi: 10.1210/en.2013-2158. Epub 2014 Apr 7.


SOX9 regulates microRNA miR-202-5p/3p expression during mouse testis differentiation.

Wainwright EN, Jorgensen JS, Kim Y, Truong V, Bagheri-Fam S, Davidson T, Svingen T, Fernandez-Valverde SL, McClelland KS, Taft RJ, Harley VR, Koopman P, Wilhelm D.

Biol Reprod. 2013 Aug 15;89(2):34. doi: 10.1095/biolreprod.113.110155. Print 2013 Aug.


Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease.

Caruana G, Farlie PG, Hart AH, Bagheri-Fam S, Wallace MJ, Dobbie MS, Gordon CT, Miller KA, Whittle B, Abud HE, Arkell RM, Cole TJ, Harley VR, Smyth IM, Bertram JF.

PLoS One. 2013;8(3):e55429. doi: 10.1371/journal.pone.0055429. Epub 2013 Mar 1.


Disorders of sex development: new genes, new concepts.

Ono M, Harley VR.

Nat Rev Endocrinol. 2013 Feb;9(2):79-91. doi: 10.1038/nrendo.2012.235. Epub 2012 Dec 18. Review.


A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.

Hersmus R, van der Zwan YG, Stoop H, Bernard P, Sreenivasan R, Oosterhuis JW, Brüggenwirth HT, de Boer S, White S, Wolffenbuttel KP, Alders M, McElreavy K, Drop SL, Harley VR, Looijenga LH.

PLoS One. 2012;7(7):e40858. doi: 10.1371/journal.pone.0040858. Epub 2012 Jul 18.


Redd1 is a novel marker of testis development but is not required for normal male reproduction.

Notini AJ, McClive PJ, Meachem SJ, van den Bergen JA, Western PS, Gustin SE, Harley VR, Koopman P, Sinclair AH.

Sex Dev. 2012;6(5):223-30. doi: 10.1159/000339723. Epub 2012 Jul 11.


The human testis-determining factor SRY localizes in midbrain dopamine neurons and regulates multiple components of catecholamine synthesis and metabolism.

Czech DP, Lee J, Sim H, Parish CL, Vilain E, Harley VR.

J Neurochem. 2012 Jul;122(2):260-71. doi: 10.1111/j.1471-4159.2012.07782.x. Epub 2012 Jun 8.


The male fight-flight response: a result of SRY regulation of catecholamines?

Lee J, Harley VR.

Bioessays. 2012 Jun;34(6):454-7. doi: 10.1002/bies.201100159. Epub 2012 Mar 8.


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.


Identification of mediator complex 26 (Crsp7) gametologs on platypus X1 and Y5 sex chromosomes: a candidate testis-determining gene in monotremes?

Tsend-Ayush E, Kortschak RD, Bernard P, Lim SL, Ryan J, Rosenkranz R, Borodina T, Dohm JC, Himmelbauer H, Harley VR, Grützner F.

Chromosome Res. 2012 Jan;20(1):127-38. doi: 10.1007/s10577-011-9270-z.


Sox9 gene regulation and the loss of the XY/XX sex-determining mechanism in the mole vole Ellobius lutescens.

Bagheri-Fam S, Sreenivasan R, Bernard P, Knower KC, Sekido R, Lovell-Badge R, Just W, Harley VR.

Chromosome Res. 2012 Jan;20(1):191-9. doi: 10.1007/s10577-011-9269-5.


Wnt signaling in ovarian development inhibits Sf1 activation of Sox9 via the Tesco enhancer.

Bernard P, Ryan J, Sim H, Czech DP, Sinclair AH, Koopman P, Harley VR.

Endocrinology. 2012 Feb;153(2):901-12. doi: 10.1210/en.2011-1347. Epub 2011 Nov 29.


Antagonistic regulation of Cyp26b1 by transcription factors SOX9/SF1 and FOXL2 during gonadal development in mice.

Kashimada K, Svingen T, Feng CW, Pelosi E, Bagheri-Fam S, Harley VR, Schlessinger D, Bowles J, Koopman P.

FASEB J. 2011 Oct;25(10):3561-9. doi: 10.1096/fj.11-184333. Epub 2011 Jul 14.


Genetic mechanisms underlying 46,XY DSD with gonadal dysgenesis.

Ludbrook L, Harley VR.

Adv Exp Med Biol. 2011;707:87-8. doi: 10.1007/978-1-4419-8002-1_19. No abstract available.


Inhibition of SRY-calmodulin complex formation induces ectopic expression of ovarian cell markers in developing XY gonads.

Sim H, Argentaro A, Czech DP, Bagheri-Fam S, Sinclair AH, Koopman P, Boizet-Bonhoure B, Poulat F, Harley VR.

Endocrinology. 2011 Jul;152(7):2883-93. doi: 10.1210/en.2010-1475. Epub 2011 May 10.


Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome.

Bagheri-Fam S, Argentaro A, Svingen T, Combes AN, Sinclair AH, Koopman P, Harley VR.

Hum Mol Genet. 2011 Jun 1;20(11):2213-24. doi: 10.1093/hmg/ddr109. Epub 2011 Mar 22. Erratum in: Hum Mol Genet. 2011 Sep 1;20(17):3535.


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.


Analysis of gene function in cultured embryonic mouse gonads using nucleofection.

Ryan J, Ludbrook L, Wilhelm D, Sinclair A, Koopman P, Bernard P, Harley VR.

Sex Dev. 2011;5(1):7-15. doi: 10.1159/000322162. Epub 2010 Nov 22.


Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis.

Georg I, Bagheri-Fam S, Knower KC, Wieacker P, Scherer G, Harley VR.

Sex Dev. 2010;4(6):321-5. doi: 10.1159/000320142. Epub 2010 Sep 14.


Protein tyrosine kinase 2 beta (PTK2B), but not focal adhesion kinase (FAK), is expressed in a sexually dimorphic pattern in developing mouse gonads.

Beverdam A, Svingen T, Bagheri-Fam S, McClive P, Sinclair AH, Harley VR, Koopman P.

Dev Dyn. 2010 Oct;239(10):2735-41. doi: 10.1002/dvdy.22396.


Acquisition of SOX transcription factor specificity through protein-protein interaction, modulation of Wnt signalling and post-translational modification.

Bernard P, Harley VR.

Int J Biochem Cell Biol. 2010 Mar;42(3):400-10. doi: 10.1016/j.biocel.2009.10.017. Epub 2009 Oct 23. Review.


Gonadal defects in Cited2-mutant mice indicate a role for SF1 in both testis and ovary differentiation.

Combes AN, Spiller CM, Harley VR, Sinclair AH, Dunwoodie SL, Wilhelm D, Koopman P.

Int J Dev Biol. 2010;54(4):683-9. doi: 10.1387/ijdb.092920ac.


Identification of suitable normalizing genes for quantitative real-time RT-PCR analysis of gene expression in fetal mouse gonads.

Svingen T, Spiller CM, Kashimada K, Harley VR, Koopman P.

Sex Dev. 2009;3(4):194-204. doi: 10.1159/000228720. Epub 2009 Sep 11.


Male-specific expression of Aldh1a1 in mouse and chicken fetal testes: implications for retinoid balance in gonad development.

Bowles J, Feng CW, Knight D, Smith CA, Roeszler KN, Bagheri-Fam S, Harley VR, Sinclair AH, Koopman P.

Dev Dyn. 2009 Aug;238(8):2073-80. doi: 10.1002/dvdy.22024.


Conserved regulatory modules in the Sox9 testis-specific enhancer predict roles for SOX, TCF/LEF, Forkhead, DMRT, and GATA proteins in vertebrate sex determination.

Bagheri-Fam S, Sinclair AH, Koopman P, Harley VR.

Int J Biochem Cell Biol. 2010 Mar;42(3):472-7. doi: 10.1016/j.biocel.2009.07.001. Epub 2009 Jul 16.


A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma.

Hersmus R, de Leeuw BH, Stoop H, Bernard P, van Doorn HC, Brüggenwirth HT, Drop SL, Oosterhuis JW, Harley VR, Looijenga LH.

Eur J Hum Genet. 2009 Dec;17(12):1642-9. doi: 10.1038/ejhg.2009.96. Epub 2009 Jun 10.


Localization of the chromatin remodelling protein, ATRX in the adult testis.

Tang P, Argentaro A, Pask AJ, O'Donnell L, Marshall-Graves J, Familari M, Harley VR.

J Reprod Dev. 2011 Jun;57(3):317-21. Epub 2009 May 15.


Three-dimensional visualization of testis cord morphogenesis, a novel tubulogenic mechanism in development.

Combes AN, Lesieur E, Harley VR, Sinclair AH, Little MH, Wilhelm D, Koopman P.

Dev Dyn. 2009 May;238(5):1033-41. doi: 10.1002/dvdy.21925.


Ex vivo magnetofection: a novel strategy for the study of gene function in mouse organogenesis.

Svingen T, Wilhelm D, Combes AN, Hosking B, Harley VR, Sinclair AH, Koopman P.

Dev Dyn. 2009 Apr;238(4):956-64. doi: 10.1002/dvdy.21919.


Sox9-dependent expression of Gstm6 in Sertoli cells during testis development in mice.

Beverdam A, Svingen T, Bagheri-Fam S, Bernard P, McClive P, Robson M, Khojasteh MB, Salehi M, Sinclair AH, Harley VR, Koopman P.

Reproduction. 2009 Mar;137(3):481-6. doi: 10.1530/REP-08-0336. Epub 2008 Dec 19.


Androgen receptor repeat length polymorphism associated with male-to-female transsexualism.

Hare L, Bernard P, Sánchez FJ, Baird PN, Vilain E, Kennedy T, Harley VR.

Biol Psychiatry. 2009 Jan 1;65(1):93-6. doi: 10.1016/j.biopsych.2008.08.033. Epub 2008 Oct 28.


Testis development, fertility, and survival in Ethanolamine kinase 2-deficient mice.

Gustin SE, Western PS, McClive PJ, Harley VR, Koopman PA, Sinclair AH.

Endocrinology. 2008 Dec;149(12):6176-86. doi: 10.1210/en.2008-0584. Epub 2008 Aug 28.


Paraspeckle protein p54nrb links Sox9-mediated transcription with RNA processing during chondrogenesis in mice.

Hata K, Nishimura R, Muramatsu S, Matsuda A, Matsubara T, Amano K, Ikeda F, Harley VR, Yoneda T.

J Clin Invest. 2008 Sep;118(9):3098-108. doi: 10.1172/JCI31373.


Boys, girls and shuttling of SRY and SOX9.

Sim H, Argentaro A, Harley VR.

Trends Endocrinol Metab. 2008 Aug;19(6):213-22. doi: 10.1016/j.tem.2008.04.002. Epub 2008 Jun 26. Review.


Identification of Phox2b-regulated genes by expression profiling of cranial motoneuron precursors.

Pla P, Hirsch MR, Le Crom S, Reiprich S, Harley VR, Goridis C.

Neural Dev. 2008 Jun 19;3:14. doi: 10.1186/1749-8104-3-14.


The rhox homeobox gene family shows sexually dimorphic and dynamic expression during mouse embryonic gonad development.

Daggag H, Svingen T, Western PS, van den Bergen JA, McClive PJ, Harley VR, Koopman P, Sinclair AH.

Biol Reprod. 2008 Sep;79(3):468-74. doi: 10.1095/biolreprod.107.067348. Epub 2008 Jun 18.


Characterisation of urogenital ridge gene expression in the human embryonal carcinoma cell line NT2/D1.

Knower KC, Sim H, McClive PJ, Bowles J, Koopman P, Sinclair AH, Harley VR.

Sex Dev. 2007;1(2):114-26. doi: 10.1159/000100033.


Loss of Fgfr2 leads to partial XY sex reversal.

Bagheri-Fam S, Sim H, Bernard P, Jayakody I, Taketo MM, Scherer G, Harley VR.

Dev Biol. 2008 Feb 1;314(1):71-83. Epub 2007 Nov 19.


Wnt4 inhibits beta-catenin/TCF signalling by redirecting beta-catenin to the cell membrane.

Bernard P, Fleming A, Lacombe A, Harley VR, Vilain E.

Biol Cell. 2008 Mar;100(3):167-77.


Sex-specific expression of a novel gene Tmem184a during mouse testis differentiation.

Svingen T, Beverdam A, Bernard P, McClive P, Harley VR, Sinclair AH, Koopman P.

Reproduction. 2007 May;133(5):983-9.


Supplemental Content

Loading ...
Support Center