Mammalian sex determination—insights from humans and mice

Novel homozygous mutations in Desert Hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods

(2011) Dhanjit Kumar Das et al.   European Journal of Medical Genetics

A novel WT1 gene mutation in a patient with Wilms’ tumor and 46, XY gonadal dysgenesis

(2011) Dong-Gi Lee et al.   EUROPEAN JOURNAL OF PEDIATRICS

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

(2011) S. Benko et al.   JOURNAL OF MEDICAL 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

Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments β-Catenin Signaling

(2011) Sara Tomaselli 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

De novo 12;17 translocation upstream ofSOX9resulting in 46,XX testicular disorder of sex development

(2010) Osama Refai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Retinoic acid prevents germ cell mitotic arrest in mouse fetal testes

(2010) Emilie Trautmann et al.   CELL CYCLE

An unbalanced autosomal translocation (7;9) associated with feminization

(2010) M. Crocker et al.   CLINICAL GENETICS

FOXL2 and BMP2 Act Cooperatively to RegulateFollistatinGene Expression during Ovarian Development

(2010) Kenichi Kashimada et al.   ENDOCRINOLOGY

Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development

(2010) L. Audi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

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

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

Genotype–phenotype correlation in four 15q24 deleted patients identified by array-CGH

(2009) Joris Andrieux et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream ofSOX9

(2009) Claire Lecointre et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Cerebellin 4 Precursor Gene Is a Direct Target of SRY and SOX9 in Mice1

(2009) Stephen T. Bradford et al.   BIOLOGY OF REPRODUCTION

Global Gene Expression in the Human Fetal Testis and Ovary1

(2009) Brenda Houmard et al.   BIOLOGY OF REPRODUCTION

Somatic Sex Reprogramming of Adult Ovaries to Testes by FOXL2 Ablation

(2009) N. Henriette Uhlenhaut et al.   CELL

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency

(2009) Birgit Köhler et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

(2009) Michela Barbaro et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female

(2009) Anneke van Silfhout et al.   European Journal of Medical Genetics

Mayer–Rokitansky–Kuster–Hauser syndrome: Recent clinical and genetic findings

(2009) Charles Sultan et al.   GYNECOLOGICAL ENDOCRINOLOGY

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

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

Long-range regulation at the SOX9 locus in development and disease

(2009) C T Gordon et al.   JOURNAL OF MEDICAL GENETICS

Gene dosage effects and transcriptional regulation of early mammalian adrenal cortex development

(2009) Pierre Val et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

The avian Z-linked gene DMRT1 is required for male sex determination in the chicken

(2009) Craig A. Smith et al.   NATURE

The evolution of Fox genes and their role in development and disease

(2009) Sridhar Hannenhalli et al.   NATURE REVIEWS GENETICS

Mutations inNR5A1Associated with Ovarian Insufficiency

(2009) Diana Lourenço et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening

(2009) Barbara D'haene et al.   PLoS Genetics

Cloning and expression of R-Spondin1 in different vertebrates suggests a conserved role in ovarian development

(2008) Craig A Smith et al.   BMC DEVELOPMENTAL BIOLOGY

A GATA4/WT1 cooperation regulates transcription of genes required for mammalian sex determination and differentiation

(2008) Yoko Miyamoto et al.   BMC MOLECULAR BIOLOGY

Ovarian development in mice requires the GATA4-FOG2 transcription complex

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

Sox8 is a critical regulator of adult Sertoli cell function and male fertility

(2008) Moira K. O'Bryan et al.   DEVELOPMENTAL BIOLOGY

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

Positive Regulation of Steroidogenic Acute Regulatory Protein Gene Expression through the Interaction betweenDlxandGATA-4for Testicular Steroidogenesis

(2008) Hisayo Nishida et al.   ENDOCRINOLOGY

Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management

(2008) Forbes D Porter   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

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

Role of the GATA Family of Transcription Factors in Endocrine Development, Function, and Disease

(2008) Robert S. Viger et al.   MOLECULAR ENDOCRINOLOGY

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

(2008) Ryohei Sekido et al.   NATURE

Genetics of Ovarian Differentiation: Rspo1, a Major Player

(2008) A.A. Chassot et al.   Sexual Development

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

(2007) Sara Tomaselli et al.   HUMAN MUTATION