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Vincent Harley

Research Profile

Chemicals & Drugs

Living Beings

Mouse

Anatomy

Genes & Molecular Sequences

Disorders

Disorders of Sex Development

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Publications

TOP 3
Makoto Ono; Vincent R Harley
Disorders of sex development: new genes, new concepts.
Georgina Caruana; Timothy J Cole; Michael S Dobbie; Peter G Farlie; Christopher Gordon; Vincent R Harley; Adam H Hart; Kerry A Miller; Ian M Smyth; Megan J Wallace; Belinda Whittle; Helen E Abud; Ruth M Arkell; Stefan Bagheri-Fam; John F Bertram
Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease.
Joohyung Lee; Vincent R Harley
The male fight-flight response: a result of SRY regulation of catecholamines?

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All Publications

2013: Makoto Ono; Vincent R Harley
Disorders of sex development: new genes, new concepts.
Nature reviews. Endocrinology 2013;9(2):79-91.
2013: Georgina Caruana; Timothy J Cole; Michael S Dobbie; Peter G Farlie; Christopher Gordon; Vincent R Harley; Adam H Hart; Kerry A Miller; Ian M Smyth; Megan J Wallace; Belinda Whittle; Helen E Abud; Ruth M Arkell; Stefan Bagheri-Fam; John F Bertram
Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease.
PloS one 2013;8(3):e55429.
2012: Joohyung Lee; Vincent R Harley
The male fight-flight response: a result of SRY regulation of catecholamines?
BioEssays : news and reviews in molecular, cellular and developmental biology 2012;34(6):454-7.
2012: Louisa M Ludbrook; Janelle Ryan; Ryohei Sekido; Dagmar Wilhelm; Stefan Bagheri-Fam; Pascal Bernard; Robin Lovell-Badge; Vincent R Harley
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).
Endocrinology 2012;153(4):1948-58.
2012: Pascal Bernard; Daniel P Czech; Peter Koopman; Janelle Ryan; Helena Sim; Andrew H Sinclair; Vincent R Harley
Wnt signaling in ovarian development inhibits Sf1 activation of Sox9 via the Tesco enhancer.
Endocrinology 2012;153(2):901-12.
2012: Amanda J Notini; Jocelyn van den Bergen; Patrick S Western; S E Gustin; Vincent R Harley; Peter Koopman; Peter J McClive; S J Meachem; Andrew H Sinclair
Redd1 is a novel marker of testis development but is not required for normal male reproduction.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2012;6(5):223-30.
2012: Stefan Bagheri-Fam; Pascal Bernard; Walter Just; Kevin Knower; Robin Lovell-Badge; Ryohei Sekido; Rajini Sreenivasan; Vincent R Harley
Sox9 gene regulation and the loss of the XY/XX sex-determining mechanism in the mole vole Ellobius lutescens.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2012;20(1):191-9.
2011: Kenichi Kashimada; Emanuele Pelosi; David Schlessinger; Terje Svingen; Stefan Bagheri-Fam; Josephine Bowles; Chun-Wei Feng; Vincent R Harley; Peter Koopman
Antagonistic regulation of Cyp26b1 by transcription factors SOX9/SF1 and FOXL2 during gonadal development in mice.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2011;25(10):3561-9.
2011: Helena Sim; Andrew H Sinclair; Peter Koopman; Francis Poulat; Anthony Argentaro; Stefan Bagheri-Fam; Brigitte Boizet-Bonhoure; Daniel P Czech; Vincent R Harley
Inhibition of SRY-calmodulin complex formation induces ectopic expression of ovarian cell markers in developing XY gonads.
Endocrinology 2011;152(7):2883-93.
2011: Stefan Bagheri-Fam; Anthony Argentaro; Terje Svingen; Alexander N Combes; Andrew H Sinclair; Peter Koopman; Vincent R Harley
Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome.
Human molecular genetics 2011;20(11):2213-24.
2011: Paisu Tang; Anthony Argentaro; Mary Familari; Jennifer Marshall-Graves; Liza O'Donnell; Andrew J Pask; Vincent R Harley
Localization of the chromatin remodelling protein, ATRX in the adult testis.
The Journal of reproduction and development 2011;57(3):317-21.
2011: Louisa Ludbrook; Vincent R Harley
Genetic mechanisms underlying 46,XY DSD with gonadal dysgenesis.
Advances in experimental medicine and biology 2011;707():87-8.
2011: Kevin C Knower; Sabine Kelly; Louisa M Ludbrook; Stefan Bagheri-Fam; Helena Sim; Pascal Bernard; Ryohei Sekido; Robin Lovell-Badge; Vincent R Harley
Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.
PloS one 2011;6(3):e17751.
2011: J Ryan; L Ludbrook; D Wilhelm; A Sinclair; P Koopman; P Bernard; Vincent R Harley
Analysis of gene function in cultured embryonic mouse gonads using nucleofection.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2011;5(1):7-15.
2010: Annemiek Beverdam; Terje Svingen; Stefan Bagheri-Fam; Peter J McClive; Andrew H Sinclair; Vincent R Harley; Peter Koopman
Protein tyrosine kinase 2 beta (PTK2B), but not focal adhesion kinase (FAK), is expressed in a sexually dimorphic pattern in developing mouse gonads.
Developmental dynamics : an official publication of the American Association of Anatomists 2010;239(10):2735-41.
2010: Pascal Bernard; Vincent R Harley
Acquisition of SOX transcription factor specificity through protein-protein interaction, modulation of Wnt signalling and post-translational modification.
The international journal of biochemistry & cell biology 2010;42(3):400-10.
2010: Stefan Bagheri-Fam; Andrew H Sinclair; Peter Koopman; Vincent R Harley
Conserved regulatory modules in the Sox9 testis-specific enhancer predict roles for SOX, TCF/LEF, Forkhead, DMRT, and GATA proteins in vertebrate sex determination.
The international journal of biochemistry & cell biology 2010;42(3):472-7.
2010: I Georg; Stefan Bagheri-Fam; K C Knower; P Wieacker; Gerd Scherer; Vincent R Harley
Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2010;4(6):321-5.
2010: Alexander N Combes; Cassy M Spiller; Vincent R Harley; Andrew H Sinclair; Sally L Dunwoodie; Dagmar Wilhelm; Peter Koopman
Gonadal defects in Cited2-mutant mice indicate a role for SF1 in both testis and ovary differentiation.
The International journal of developmental biology 2010;54(4):683-9.
2009: Josephine Bowles; Chun-Wei Feng; Deon Knight; Craig A Smith; Kelly N Roeszler; Stefan Bagheri-Fam; Vincent R Harley; Andrew H Sinclair; Peter Koopman
Male-specific expression of Aldh1a1 in mouse and chicken fetal testes: implications for retinoid balance in gonad development.
Developmental dynamics : an official publication of the American Association of Anatomists 2009;238(8):2073-80.
2009: Alexander N Combes; Emmanuelle Lesieur; Vincent R Harley; Andrew H Sinclair; Melissa H Little; Dagmar Wilhelm; Peter Koopman
Three-dimensional visualization of testis cord morphogenesis, a novel tubulogenic mechanism in development.
Developmental dynamics : an official publication of the American Association of Anatomists 2009;238(5):1033-41.
2009: Terje Svingen; Dagmar Wilhelm; Alexander N Combes; Brett Hosking; Vincent R Harley; Andrew H Sinclair; Peter Koopman
Ex vivo magnetofection: a novel strategy for the study of gene function in mouse organogenesis.
Developmental dynamics : an official publication of the American Association of Anatomists 2009;238(4):956-64.
2009: Annemiek Beverdam; Terje Svingen; Stefan Bagheri-Fam; Pascal Bernard; Peter J McClive; Mathew Robson; Mahdi Banan Khojasteh; Mahboubeh Salehi; Andrew H Sinclair; Vincent R Harley; Peter Koopman
Sox9-dependent expression of Gstm6 in Sertoli cells during testis development in mice.
Reproduction (Cambridge, England) 2009;137(3):481-6.
2009: Terje Svingen; C M Spiller; K Kashimada; Vincent R Harley; Peter Koopman
Identification of suitable normalizing genes for quantitative real-time RT-PCR analysis of gene expression in fetal mouse gonads.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2009;3(4):194-204.
2009: Lauren Hare; Pascal Bernard; Francisco Sánchez; Paul N Baird; Eric Vilain; Trudy Kennedy; Vincent R Harley
Androgen receptor repeat length polymorphism associated with male-to-female transsexualism.
Biological psychiatry 2009;65(1):93-6.
2008: Helena Sim; Anthony Argentaro; Vincent R Harley
Boys, girls and shuttling of SRY and SOX9.
Trends in endocrinology and metabolism: TEM 2008;19(6):213-22.
2008: Pascal Bernard; Alice Fleming; Arnaud Lacombe; Vincent R Harley; Eric Vilain
Wnt4 inhibits beta-catenin/TCF signalling by redirecting beta-catenin to the cell membrane.
Biology of the cell / under the auspices of the European Cell Biology Organization 2008;100(3):167-77.
2008: Stefan Bagheri-Fam; Helena Sim; Pascal Bernard; Irumini Jayakody; Makoto M Taketo; Gerd Scherer; Vincent R Harley
Loss of Fgfr2 leads to partial XY sex reversal.
Developmental biology 2008;314(1):71-83.
2008: Pascal Bernard; Helena Sim; Kevin Knower; Eric Vilain; Vincent R Harley
Human SRY inhibits beta-catenin-mediated transcription.
The international journal of biochemistry & cell biology 2008;40(12):2889-900.
2007: Eric Vilain; John C Achermann; Erica A Eugster; Vincent R Harley; Yves Morel; Jean D Wilson; Olaf Hiort
We used to call them hermaphrodites.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(2):65-6.
2007: Pascal Bernard; Vincent R Harley
Wnt4 action in gonadal development and sex determination.
The international journal of biochemistry & cell biology 2007;39(1):31-43.
2006: Yi Wang; Sika Ristevski; Vincent R Harley
SOX13 exhibits a distinct spatial and temporal expression pattern during chondrogenesis, neurogenesis, and limb development.
The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 2006;54(12):1327-33.
2006: Pascal Bernard; Louisa Ludbrook; Gloria Queipo; Mary-Beth Dinulos; Gad B Kletter; Yao-Hua Zhang; James K Phelan; Edward R B McCabe; Vincent R Harley; Eric Vilain
A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female.
Molecular genetics and metabolism 2006;88(3):272-9.
2006: Phoebe Dewing; Charleston W K Chiang; Kevin Sinchak; Helena Sim; Pierre-Olivier Fernagut; Sabine Kelly; Marie-Francoise Chesselet; Paul Micevych; Kenneth H. Albrecht; Vincent R Harley; Eric Vilain
Direct regulation of adult brain function by the male-specific factor SRY.
Current biology : CB 2006;16(4):415-20.
2005: Daniel J Park; Andrew J Pask; Kim Huynh; Vincent R Harley; Marilyn Renfree; Jennifer A Marshall Graves
Characterisation of the marsupial-specific ATRY gene: implications for the evolution of male-specific function.
Gene 2005;362():29-36.
2005: Helena Sim; Kieran Rimmer; Sabine Kelly; Louisa M Ludbrook; Andrew H A Clayton; Vincent R Harley
Defective calmodulin-mediated nuclear transport of the sex-determining region of the Y chromosome (SRY) in XY sex reversal.
Molecular endocrinology (Baltimore, Md.) 2005;19(7):1884-92.
2005: Yi Wang; Stefan Bagheri-Fam; Vincent R Harley
SOX13 is up-regulated in the developing mouse neuroepithelium and identifies a sub-population of differentiating neurons.
Brain research. Developmental brain research 2005;157(2):201-8.
2004: Daniel J Park; Andrew J Pask; Kim Huynh; Marilyn Renfree; Vincent R Harley; Jennifer A Marshall Graves
Comparative analysis of ATRX, a chromatin remodeling protein.
Gene 2004;339():39-48.
2004: Paisu Tang; Daniel J Park; Jennifer A Marshall Graves; Vincent R Harley
ATRX and sex differentiation.
Trends in endocrinology and metabolism: TEM 2004;15(7):339-44.
2004: Louisa M Ludbrook; Vincent R Harley
Sex determination: a 'window' of DAX1 activity.
Trends in endocrinology and metabolism: TEM 2004;15(3):116-21.
2003: Anthony Argentaro; Helena Sim; Sabine Kelly; Scott Preiss; Andrew Clayton; David A Jans; Vincent R Harley
A SOX9 defect of calmodulin-dependent nuclear import in campomelic dysplasia/autosomal sex reversal.
The Journal of biological chemistry 2003;278(36):33839-47.
2003: Vincent R Harley; Michael J Clarkson; Anthony Argentaro
The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility group (HMG) box 9].
Endocrine reviews 2003;24(4):466-87.
2003: Pascal Bernard; Paisu Tang; Siyuan Liu; Phoebe Dewing; Vincent R Harley; Eric Vilain
Dimerization of SOX9 is required for chondrogenesis, but not for sex determination.
Human molecular genetics 2003;12(14):1755-65.
2003: Vincent R Harley; Sharon Layfield; Claire L Mitchell; Jade K Forwood; Anna P John; Lyndall J Briggs; Sharon G McDowall; David A Jans
Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(12):7045-50.
2003: Sabine Kelly; Julia Yotis; Mary Macris; Vincent R Harley
Recombinant expression, purification and characterisation of the HMG domain of human SRY.
Protein and peptide letters 2003;10(3):281-6.
2003: Kevin Knower; Sabine Kelly; Vincent R Harley
Turning on the male--SRY, SOX9 and sex determination in mammals.
Cytogenetic and genome research 2003;101(3-4):185-98.
2002: Claire L Mitchell; Vincent R Harley
Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis.
Molecular genetics and metabolism 2002;77(3):217-25.
2002: Michael J Clarkson; Vincent R Harley
Sex with two SOX on: SRY and SOX9 in testis development.
Trends in endocrinology and metabolism: TEM 2002;13(3):106-11.
2002: Vincent R Harley
The molecular action of testis-determining factors SRY and SOX9.
Novartis Foundation symposium 2002;244():57-66; discussion 66-7, 79-85, 253-7.
2001: Jade K Forwood; Vincent R Harley; David A Jans
The C-terminal nuclear localization signal of the sex-determining region Y (SRY) high mobility group domain mediates nuclear import through importin beta 1.
The Journal of biological chemistry 2001;276(49):46575-82.
2001: Scott Preiss; Anthony Argentaro; A Clayton; A John; David A Jans; T Ogata; T Nagai; Inês Barroso; Alan J Schafer; Vincent R Harley
Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation.
The Journal of biological chemistry 2001;276(30):27864-72.
2001: S Pompolo; Vincent R Harley
Localisation of the SRY-related HMG box protein, SOX9, in rodent brain.
Brain research 2001;906(1-2):143-8.
2001: I Sekiya; Peter Koopman; Kunikazu Tsuji; S Mertin; Vincent R Harley; Y Yamada; Kenichi Shinomiya; Akira Nifuji; Mitsuhiko Noda
Dexamethasone enhances SOX9 expression in chondrocytes.
The Journal of endocrinology 2001;169(3):573-9.
2001: O J Marshall; Vincent R Harley
Identification of an interaction between SOX9 and HSP70.
FEBS letters 2001;496(2-3):75-80.
2001: Anthony Argentaro; Beth Wapelhorst; Patrick Concannon; Vincent R Harley
Linkage studies of SOX13, the ICA12 autoantigen gene, in families with type 1 diabetes.
Molecular genetics and metabolism 2001;72(4):356-9.
2001: I Sekiya; Peter Koopman; Kunikazu Tsuji; S Mertin; Vincent R Harley; Y Yamada; Kenichi Shinomiya; A Niguji; Mitsuhiko Noda
Transcriptional suppression of Sox9 expression in chondrocytes by retinoic acid.
Journal of cellular biochemistry. Supplement 2001;Suppl 36():71-8.
2000: O J Marshall; Vincent R Harley
Molecular mechanisms of SOX9 action.
Molecular genetics and metabolism 2000;71(3):455-62.
2000: Anthony Argentaro; jane elizabeth olsson; R Critcher; Sharon G McDowall; Vincent R Harley
Genomic characterisation and fine mapping of the human SOX13 gene.
Gene 2000;250(1-2):181-9.
2000: H Kasimiotis; Mark A Myers; Anthony Argentaro; S Mertin; Shahnaz Fida; T Ferraro; jane elizabeth olsson; Merrill J Rowley; Vincent R Harley
Sex-determining region Y-related protein SOX13 is a diabetes autoantigen expressed in pancreatic islets.
Diabetes 2000;49(4):555-61.
1999: Sharon G McDowall; Anthony Argentaro; S Ranganathan; P Weller; S Mertin; S Mansour; J Tolmie; Vincent R Harley
Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia.
The Journal of biological chemistry 1999;274(34):24023-30.
1999: S Mertin; Sharon G McDowall; Vincent R Harley
The DNA-binding specificity of SOX9 and other SOX proteins.
Nucleic acids research 1999;27(5):1359-64.