Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development

Genetic Analyses Reveal Functions for MAP2K3 and MAP2K6 in Mouse Testis Determination1

(2016) Nick Warr et al.   BIOLOGY OF REPRODUCTION

Genetic insights intoMap3k-dependent proliferative expansion of T cells

(2016) Tesha Suddason et al.   CELL CYCLE

46,XX ovotesticular DSD associated with aSOX3gene duplication in aSRY-negative boy

(2016) Romina P. Grinspon et al.   CLINICAL ENDOCRINOLOGY

Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care

(2016) Peter A. Lee et al.   Hormone Research in Paediatrics

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

(2016) Anu Bashamboo et al.   HUMAN MOLECULAR GENETICS

Doublesex and mab-3 related transcription factor 1 ( DMRT1 ) is a sex-specific genetic determinant of childhood-onset asthma and is expressed in testis and macrophages

(2016) Maximilian Schieck et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

(2016) Tulay Guran et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis

(2016) Inas Mazen et al.   Sexual Development

Refining the regulatory region upstream ofSOX9associated with 46,XX testicular disorders of Sex Development (DSD)

(2015) Capucine Hyon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The goya mouse mutant reveals distinct newly identified roles for MAP3K1 in the development and survival of cochlear sensory hair cells

(2015) A. Parker et al.   Disease Models & Mechanisms

GATA4 Is a Key Regulator of Steroidogenesis and Glycolysis in Mouse Leydig Cells

(2015) Anja Schrade et al.   ENDOCRINOLOGY

MEF2 Cooperates With Forskolin/cAMP and GATA4 to RegulateStarGene Expression in Mouse MA-10 Leydig Cells

(2015) Caroline Daems et al.   ENDOCRINOLOGY

Interchromosomal Insertional Translocation at Xq26.3 AltersSOX3Expression in an Individual With XX Male Sex Reversal

(2015) Bryan Haines et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Copy number variation of two separate regulatory regions upstream ofSOX9causes isolated 46,XY or 46,XX disorder of sex development

(2015) Gwang-Jin Kim et al.   JOURNAL OF MEDICAL GENETICS

Dishevelled Promotes Wnt Receptor Degradation through Recruitment of ZNRF3/RNF43 E3 Ubiquitin Ligases

(2015) Xiaomo Jiang et al.   MOLECULAR CELL

Genome-Wide Identification of CBX2 Targets: Insights in the Human Sex Development Network

(2015) Wassim Eid et al.   MOLECULAR ENDOCRINOLOGY

An ancient protein-DNA interaction underlying metazoan sex determination

(2015) Mark W Murphy et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

An ancient protein-DNA interaction underlying metazoan sex determination

(2015) Mark W Murphy et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion ofSOX9

(2015) Yuko Katoh-Fukui et al.   Molecular Genetics & Genomic Medicine

The novel p.Cys65Tyr mutation in NR5A1gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency

(2014) Helena Campos Fabbri et al.   BMC Medical Genetics

The MEKK1 PHD ubiquitinates TAB1 to activate MAPKs in response to cytokines

(2014) N. Charlaftis et al.   EMBO JOURNAL

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

(2014) Annalisa Vetro et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination

(2014) A. Bashamboo et al.   HUMAN MOLECULAR GENETICS

Testicular differentiation factor SF-1 is required for human spleen development

(2014) David Zangen et al.   JOURNAL OF CLINICAL INVESTIGATION

Central Hypogonadotropic Hypogonadism: Genetic Complexity of a Complex Disease

(2014) Marco Marino et al.   International Journal of Endocrinology

Structural basis for R-spondin recognition by LGR4/5/6 receptors

(2013) D. Wang et al.   GENES & DEVELOPMENT

Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling

(2013) Johnny Loke et al.   HUMAN MOLECULAR GENETICS

Population Based Nationwide Study of Hypospadias in Sweden, 1973 to 2009: Incidence and Risk Factors

(2013) Anna Skarin Nordenvall et al.   JOURNAL OF UROLOGY

XX male sex reversal with genital abnormalities associated with a de novoSOX3gene duplication

(2012) Sharon Moalem et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

GADD45G Functions in Male Sex Determination by Promoting p38 Signaling and Sry Expression

(2012) Mathias S. Gierl et al.   DEVELOPMENTAL CELL

Gadd45γ and Map3k4 Interactions Regulate Mouse Testis Determination via p38 MAPK-Mediated Control of Sry Expression

(2012) Nick Warr et al.   DEVELOPMENTAL CELL

Knockdown of SF-1 and RNF31 Affects Components of Steroidogenesis, TGFβ, and Wnt/β-catenin Signaling in Adrenocortical Carcinoma Cells

(2012) Anna Ehrlund et al.   PLoS One

Steroidogenic Factor-1 and Human Disease

(2012) Ranna El-Khairi et al.   SEMINARS IN REPRODUCTIVE MEDICINE

NovelZFPM2/FOG2variants in patients with double outlet right ventricle

(2011) Z-P Tan et al.   CLINICAL GENETICS

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

Eliminating SF-1 (NR5A1) Sumoylation In Vivo Results in Ectopic Hedgehog Signaling and Disruption of Endocrine Development

(2011) Florence Y. Lee et al.   DEVELOPMENTAL CELL

Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome)

(2011) Pascal Philibert et al.   FERTILITY AND STERILITY

Mammalian Testis-determining Factor SRY and the Enigma of Inherited Human Sex Reversal

(2011) Nelson B. Phillips et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

XX males SRY negative: a confirmed cause of infertility

(2011) A. Vetro et al.   JOURNAL OF MEDICAL GENETICS

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

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

(2011) Nick Warr et al.   PLoS One

Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias

(2011) Slimane Allali 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

Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1

(2010) Anu Bashamboo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

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

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

(2009) Margaret J. Wat et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Somatic Sex Reprogramming of Adult Ovaries to Testes by FOXL2 Ablation

(2009) N. Henriette Uhlenhaut et al.   CELL

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

Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia

(2009) Ingo Kurth et al.   NATURE GENETICS

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

(2009) Sabina Benko et al.   NATURE GENETICS

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

SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

(2008) Hannah Mandel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Differential Diagnosis of Disorders of Sex Development in Egypt

(2008) I. Mazen et al.   HORMONE RESEARCH

Identification and Functional Analysis of a New WNT4 Gene Mutation among 28 Adolescent Girls with Primary Amenorrhea and Müllerian Duct Abnormalities: A French Collaborative Study

(2008) Pascal Philibert et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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