Ludbrook L - Search Results

1

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. Sreenivasan R, et al. Among authors: ludbrook l. Hum Mutat. 2018 Dec;39(12):1861-1874. doi: 10.1002/humu.23603. Epub 2018 Aug 22. Hum Mutat. 2018. PMID: 30067310

2

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. Knower KC, et al. Among authors: ludbrook lm. PLoS One. 2011 Mar 11;6(3):e17751. doi: 10.1371/journal.pone.0017751. PLoS One. 2011. PMID: 21412441 Free PMC article.

3

SOX9 regulates expression of the male fertility gene Ets variant factor 5 (ETV5) during mammalian sex development.

Alankarage D, Lavery R, Svingen T, Kelly S, Ludbrook L, Bagheri-Fam S, Koopman P, Harley V. Alankarage D, et al. Among authors: ludbrook l. Int J Biochem Cell Biol. 2016 Oct;79:41-51. doi: 10.1016/j.biocel.2016.08.005. Epub 2016 Aug 4. Int J Biochem Cell Biol. 2016. PMID: 27498191

4

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. Ryan J, et al. Among authors: ludbrook l. Sex Dev. 2011;5(1):7-15. doi: 10.1159/000322162. Epub 2010 Nov 22. Sex Dev. 2011. PMID: 21099207

5

Genetic mechanisms underlying 46,XY DSD with gonadal dysgenesis.

Ludbrook L, Harley VR. Ludbrook L, et al. Adv Exp Med Biol. 2011;707:87-8. doi: 10.1007/978-1-4419-8002-1_19. Adv Exp Med Biol. 2011. PMID: 21691961 No abstract available.

6

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. Ludbrook LM, et al. Endocrinology. 2012 Apr;153(4):1948-58. doi: 10.1210/en.2011-1428. Epub 2012 Jan 31. Endocrinology. 2012. PMID: 22294746

7

Dataset of differentially expressed genes from SOX9 over-expressing NT2/D1 cells.

Ludbrook L, Alankarage D, Bagheri-Fam S, Harley V. Ludbrook L, et al. Data Brief. 2016 Aug 30;9:194-8. doi: 10.1016/j.dib.2016.08.047. eCollection 2016 Dec. Data Brief. 2016. PMID: 27656672 Free PMC article.

8

Sex determination: a 'window' of DAX1 activity.

Ludbrook LM, Harley VR. Ludbrook LM, et al. Trends Endocrinol Metab. 2004 Apr;15(3):116-21. doi: 10.1016/j.tem.2004.02.002. Trends Endocrinol Metab. 2004. PMID: 15046740 Review.

9

Defective calmodulin-mediated nuclear transport of the sex-determining region of the Y chromosome (SRY) in XY sex reversal.

Sim H, Rimmer K, Kelly S, Ludbrook LM, Clayton AH, Harley VR. Sim H, et al. Among authors: ludbrook lm. Mol Endocrinol. 2005 Jul;19(7):1884-92. doi: 10.1210/me.2004-0334. Epub 2005 Mar 3. Mol Endocrinol. 2005. PMID: 15746192

10

A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female.

Bernard P, Ludbrook L, Queipo G, Dinulos MB, Kletter GB, Zhang YH, Phelan JK, McCabe ER, Harley VR, Vilain E. Bernard P, et al. Among authors: ludbrook l. Mol Genet Metab. 2006 Jul;88(3):272-9. doi: 10.1016/j.ymgme.2005.12.004. Epub 2006 Feb 3. Mol Genet Metab. 2006. PMID: 16459121

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