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List of works by Vincent R Harley

A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation ⬇️

scientific article published on July 18, 2012

A clinical algorithm to diagnose differences of sex development

scientific article published on 22 February 2019

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

scientific article

A familial mutation in the testis-determining gene SRY shared by both sexes

scientific article

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

scientific article published on 9 November 2011

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

scientific article

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

scientific article published on 23 October 2009

Altered SOX9 genital tubercle enhancer region in hypospadias

scientific article published on 28 October 2016

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

scientific article published on 22 November 2010

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

scientific article

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

scientific journal article

Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

scientific article published on 23 July 2019

Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis.

scientific article published in November 2002

Biological factors underlying sex differences in neurological disorders

scientific article published on 28 May 2015

Cell aggregation precedes the onset of Sox9-expressing preSertoli cells in the genital ridge of mouse

scientific article published on 01 January 2003

Characterisation of an avian influenza virus nucleoprotein expressed in E. coli and in insect cells.

scientific article published in January 1990

Characterisation of the marsupial-specific ATRY gene: implications for the evolution of male-specific function.

scientific article published on 4 October 2005

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

scientific article

Comparative analysis of ATRX, a chromatin remodeling protein

scientific article

Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation

scientific article (publication date: 27 July 2001)

Comprehensive analysis of collagen metabolism in vitro using [4(3H)]/[14C]proline dual-labeling and polyacrylamide gel electrophoresis

scientific article published on 01 January 1988

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

scientific article published on 16 July 2009

Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis

scientific article

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

scientific article published on 30 August 2016

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

scientific article published on 03 March 2005

Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations.

scientific article

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

scientific journal article

Dexamethasone enhances SOX9 expression in chondrocytes

scientific article published on 01 June 2001

Differential expression of SOX9 in gonads of the sea turtle Lepidochelys olivacea at male- or female-promoting temperatures

scientific article published on 01 November 1999

Dimerization of SOX9 is required for chondrogenesis, but not for sex determination

scientific article published on 01 July 2003

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

scientific article

Disorders of sex development: new genes, new concepts ⬇️

scientific article published on December 18, 2012

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

scientific article

Endothelial cell migration directs testis cord formation

scientific article published on 7 November 2008

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

scientific article

Excess DAX1 Leads to XY Ovotesticular Disorder of Sex Development (DSD) in Mice by Inhibiting Steroidogenic Factor-1 (SF1) Activation of the Testis Enhancer ofSRY-box-9(Sox9)

scientific article published on 31 January 2012

FGFR2 mutation in 46,XY sex reversal with craniosynostosis

scientific article

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

scientific article

Forward mandibular positioning up-regulates SOX9 and type II collagen expression in the glenoid fossa

scientific article published on 01 September 2003

Functional analysis of the SRY-KRAB interaction in mouse sex determination

article

Genetic Link Between Gender Dysphoria and Sex Hormone Signaling

scientific article published on 01 February 2019

Genetic mechanisms underlying 46,XY DSD with gonadal dysgenesis

scientific article published on 01 January 2011

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

scientific journal article

Genomic characterisation and fine mapping of the human SOX13 gene

scientific article

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

scientific article published in January 2010

High-level temperature-induced synthesis of an antibody VH-domain in Escherichia coli using the PelB secretion signal

scientific article

Human SRY inhibits beta-catenin-mediated transcription

scientific article published on 28 June 2008

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

scientific article published in Nature Communications

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

scientific article published on 19 June 2008

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

scientific article

Identification of an interaction between SOX9 and HSP70.

scientific article published on May 2001

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

scientific article

Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model

scientific article published on 30 January 2018

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

scientific article published on 11 September 2009

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

scientific article

Induction of the Sry-related factor SOX6 contributes to bone morphogenetic protein-2-induced chondroblastic differentiation of C3H10T1/2 cells.

scientific article published on 3 April 2003

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

scientific article published on 10 May 2011

Localisation of the SRY-related HMG box protein, SOX9, in rodent brain

scientific article published in July 2001

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

scientific journal article

Loss of Fgfr2 leads to partial XY sex reversal

scientific article published on 19 November 2007

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

scientific article published in August 2009

Marfan syndrome: absence of type I or III collagen structural defects in 25 patients

scientific article published on 01 January 1990

Molecular cloning and analysis of the N5 neuraminidase subtype from an avian influenza virus

scientific article

Molecular mechanisms of SOX9 action.

scientific article

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

article

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

scientific article published on 14 September 2010

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

scientific article

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

scientific article published in Scientific Reports

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

scientific article published on October 2010

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

scientific article published on 8 April 2015

Recombinant expression, purification and characterisation of the HMG domain of human SRY.

scientific article

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

scientific article published on 11 July 2012

Retinoic Acid Antagonizes Testis Development in Mice

article

SOX13 is up-regulated in the developing mouse neuroepithelium and identifies a sub-population of differentiating neurons

scientific article published on 01 June 2005

SOX9 expression does not correlate with type II collagen expression in adult articular chondrocytes.

scientific article

SOX9 in organogenesis: shared and unique transcriptional functions

scientific article published in 2022

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

scientific article published on 4 August 2016

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

scientific article published on 15 August 2013

SOX9: A genomic view of tissue specific expression and action.

scientific article

Sequence of the small double-stranded RNA genomic segment of infectious bursal disease virus and its deduced 90-kDa product.

scientific article

Sex with two SOX on: SRY and SOX9 in testis development.

scientific article

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

article

Sex-specific neuroprotection by inhibition of the Y-chromosome gene, SRY, in experimental Parkinson's disease

scientific article published on 01 August 2019

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

scientific article

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

scientific article published on 19 December 2008

Temperature regulates SOX9 expression in cultured gonads of Lepidochelys olivacea, a species with temperature sex determination.

scientific article published in January 2001

Testis Determination Requires a Specific FGFR2 Isoform to Repress FOXL2.

scientific article

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

scientific article published on 28 August 2008

The C-terminal nuclear localization signal of the sex-determining region Y (SRY) high mobility group domain mediates nuclear import through importin beta 1.

scientific article published on 04 September 2001

The DNA-binding specificity of SOX9 and other SOX proteins.

scientific article

The HMG box of SRY is a calmodulin binding domain.

scientific article published in August 1996

The biochemical role of SRY in sex determination.

scientific article published on October 1994

The cerebellin 4 precursor gene is a direct target of SRY and SOX9 in mice

scientific article

The evolutionary process of mammalian sex determination genes focusing on marsupial SRYs

scientific article published on 16 January 2018

The male fight‐flight response: A result of SRY regulation of catecholamines? ⬇️

scientific article published on March 8, 2012

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].

scientific article

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

scientific article

The structure of a complex between the NC10 antibody and influenza virus neuraminidase and comparison with the overlapping binding site of the NC41 antibody

scientific article

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

scientific article

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

scientific article published on 7 April 2014

Turning on the male--SRY, SOX9 and sex determination in mammals.

scientific article

Uterine SOX17: a key player in human endometrial receptivity and embryo implantation

scientific article published on 29 October 2019

Vaccinia virus expression and sequence of an avian influenza nucleoprotein gene: potential use in diagnosis

scientific article published in January 1990

We used to call them hermaphrodites

scientific article

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

scientific article

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

scientific article published on 29 November 2011

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

scientific article published on March 2008

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