Louisa M. Ludbrook

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

A. Sinclair, P. Koopman, K. McElreavey, 2018, Human mutation.

Failure of SOX9 Regulation in 46XY Disorders of Sex Development with SRY, SOX9 and SF1 Mutations

R. Lovell-Badge, V. Harley, R. Sekido, 2011, PloS one.

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

A. Clayton, V. Harley, K. Rimmer, 2005, Molecular endocrinology.

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

J. Phelan, E. McCabe, G. Kletter, 2006, Molecular genetics and metabolism.

Analysis of Gene Function in Cultured Embryonic Mouse Gonads Using Nucleofection

A. Sinclair, D. Wilhelm, P. Koopman, 2010, Sexual Development.

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).

R. Lovell-Badge, D. Wilhelm, V. Harley, 2012, Endocrinology.

Sex determination: a ‘window’ of DAX1 activity

V. Harley, L. Ludbrook, Louisa M. Ludbrook, 2004, Trends in Endocrinology & Metabolism.