The molecular and cellular basis of gonadal sex reversal in mice and humans

XY Sox9 embryonic loss-of-function mouse mutants show complete sex reversal and produce partially fertile XY oocytes

(2011) Rowena Lavery et al.   DEVELOPMENTAL BIOLOGY

Conditional ablation of Gata4 and Fog2 genes in mice reveals their distinct roles in mammalian sexual differentiation

(2011) N.L. Manuylov et al.   DEVELOPMENTAL BIOLOGY

Two distinct origins for Leydig cell progenitors in the fetal testis

(2011) Tony DeFalco et al.   DEVELOPMENTAL BIOLOGY

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

(2011) Stefan Bagheri-Fam et al.   HUMAN MOLECULAR GENETICS

DMRT1 prevents female reprogramming in the postnatal mammalian testis

(2011) Clinton K. Matson et al.   NATURE

ASOX9Duplication and Familial 46,XX Developmental Testicular Disorder

(2011) James J. Cox et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2011) Kevin C. Knower et al.   PLoS One

Minor Abnormalities of Testis Development in Mice Lacking the Gene Encoding the MAPK Signalling Component, MAP3K1

(2011) Nick Warr et al.   PLoS One

Basic Helix-Loop-Helix Transcription Factor TCF21 Is a Downstream Target of the Male Sex Determining Gene SRY

(2011) Ramji K. Bhandari et al.   PLoS One

Loss-of-function mutation in GATA4 causes anomalies of human testicular development

(2011) D. Lourenco et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination

(2010) Alexander Pearlman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sry: the master switch in mammalian sex determination

(2010) K. Kashimada et al.   DEVELOPMENT

FGF9 Suppresses Meiosis and Promotes Male Germ Cell Fate in Mice

(2010) Josephine Bowles et al.   DEVELOPMENTAL CELL

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

(2010) Edwina Sutton et al.   JOURNAL OF CLINICAL INVESTIGATION

Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development

(2010) Mounia Tannour-Louet et al.   PLoS One

Vascular-mesenchymal cross-talk through Vegf and Pdgf drives organ patterning

(2010) J. Cool et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sex determination in mammalian germ cells: extrinsic versus intrinsic factors

(2010) Josephine Bowles et al.   REPRODUCTION

New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)

(2010) A. Bashamboo et al.   Sexual Development

Mutations of the SRY-Responsive Enhancer of SOX9 Are Uncommon in XY Gonadal Dysgenesis

(2010) I. Georg et al.   Sexual Development

Ovaries and Female Phenotype in a Girl with 46,XY Karyotype and Mutations in the CBX2 Gene

(2009) Anna Biason-Lauber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Foxl2 functions in sex determination and histogenesis throughout mouse ovary development

(2009) José Garcia-Ortiz et al.   BMC DEVELOPMENTAL BIOLOGY

Somatic Sex Reprogramming of Adult Ovaries to Testes by FOXL2 Ablation

(2009) N. Henriette Uhlenhaut et al.   CELL

The PGD2 pathway, independently of FGF9, amplifies SOX9 activity in Sertoli cells during male sexual differentiation

(2009) B. Moniot et al.   DEVELOPMENT

FGF signaling directs a center-to-pole expansion of tubulogenesis in mouse testis differentiation

(2009) Ryuji Hiramatsu et al.   DEVELOPMENT

Novel markers of early ovarian pre-granulosa cells are expressed in an Sry-like pattern

(2009) Hyunjoo J. Lee et al.   DEVELOPMENTAL DYNAMICS

Elucidation of the transcription network governing mammalian sex determination by exploiting strain-specific susceptibility to sex reversal

(2009) S. C. Munger et al.   GENES & DEVELOPMENT

The transcription co-factor CITED2 functions during sex determination and early gonad development

(2009) Frank William Buaas et al.   HUMAN MOLECULAR GENETICS

Sox10 gain-of-function causes XX sex reversal in mice: implications for human 22q-linked disorders of sex development

(2009) Juan Carlos Polanco et al.   HUMAN MOLECULAR GENETICS

A cell-autonomous role for WT1 in regulating Sry in vivo

(2009) S. T. Bradford et al.   HUMAN MOLECULAR GENETICS

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

(2009) Stefan Bagheri-Fam et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Antagonism of the testis- and ovary-determining pathways during ovotestis development in mice

(2009) Dagmar Wilhelm et al.   MECHANISMS OF DEVELOPMENT

Cyp26b1 Expression in Murine Sertoli Cells Is Required to Maintain Male Germ Cells in an Undifferentiated State during Embryogenesis

(2009) Hui Li et al.   PLoS One

Loss of Mitogen-Activated Protein Kinase Kinase Kinase 4 (MAP3K4) Reveals a Requirement for MAPK Signalling in Mouse Sex Determination

(2009) Debora Bogani et al.   PLOS BIOLOGY

A critical time window of Sry action in gonadal sex determination in mice

(2008) R. Hiramatsu et al.   DEVELOPMENT

Wt1 negatively regulates  -catenin signaling during testis development

(2008) H. Chang et al.   DEVELOPMENT

Ovarian development in mice requires the GATA4-FOG2 transcription complex

(2008) N. L. Manuylov et al.   DEVELOPMENT

Testis cord differentiation after the sex determination stage is independent of Sox9 but fails in the combined absence of Sox9 and Sox8

(2008) Francisco Barrionuevo et al.   DEVELOPMENTAL BIOLOGY

R-spondin1 plays an essential role in ovarian development through positively regulating Wnt-4 signaling

(2008) Kazuma Tomizuka et al.   HUMAN MOLECULAR GENETICS

Stabilization of β-catenin in XY gonads causes male-to-female sex-reversal

(2008) Danielle M. Maatouk et al.   HUMAN MOLECULAR GENETICS

Sex-specific roles of  -catenin in mouse gonadal development

(2008) C.-F. Liu et al.   HUMAN MOLECULAR GENETICS

Activation of  -catenin signaling by Rspo1 controls differentiation of the mammalian ovary

(2008) A.-A. Chassot et al.   HUMAN MOLECULAR GENETICS

Complete Androgen Insensitivity Syndrome—A Review

(2008) Meghan B. Oakes et al.   Journal of Pediatric and Adolescent Gynecology

Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer

(2008) Ryohei Sekido et al.   NATURE

Boys, girls and shuttling of SRY and SOX9

(2008) Helena Sim et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Sex determination and SRY: down to a wink and a nudge?

(2008) Ryohei Sekido et al.   TRENDS IN GENETICS

Loss of Fgfr2 leads to partial XY sex reversal

(2007) Stefan Bagheri-Fam et al.   DEVELOPMENTAL BIOLOGY

Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation

(2007) Sara Tomaselli et al.   HUMAN MUTATION