4.1 Review

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

Related references

Note: Only part of the references are listed.
Article Reproductive Biology

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

Nick Warr et al.

BIOLOGY OF REPRODUCTION (2016)

Article Cell Biology

Genetic insights into Map3k-dependent proliferative expansion of T cells

Tesha Suddason et al.

CELL CYCLE (2016)

Letter Endocrinology & Metabolism

46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy

Romina P. Grinspon et al.

CLINICAL ENDOCRINOLOGY (2016)

Article Endocrinology & Metabolism

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

Peter A. Lee et al.

HORMONE RESEARCH IN PAEDIATRICS (2016)

Article Biochemistry & Molecular Biology

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

Anu Bashamboo et al.

HUMAN MOLECULAR GENETICS (2016)

Article Endocrinology & Metabolism

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

Tulay Guran et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)

Article Genetics & Heredity

Refining the Regulatory Region Upstream of SOX9 Associated with 46, XX Testicular Disorders of Sex Development (DSD)

Capucine Hyon et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)

Article Endocrinology & Metabolism

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

Anja Schrade et al.

ENDOCRINOLOGY (2015)

Article Endocrinology & Metabolism

Interchromosomal Insertional Translocation at Xq26.3 Alters SOX3 Expression in an Individual With XX Male Sex Reversal

Bryan Haines et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Article Biochemistry & Molecular Biology

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

Xiaomo Jiang et al.

MOLECULAR CELL (2015)

Article Endocrinology & Metabolism

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

Wassim Eid et al.

MOLECULAR ENDOCRINOLOGY (2015)

Article Biochemistry & Molecular Biology

An ancient protein-DNA interaction underlying metazoan sex determination

Mark W. Murphy et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2015)

Article Biochemistry & Molecular Biology

An ancient protein-DNA interaction underlying metazoan sex determination

Mark W. Murphy et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2015)

Article Biochemistry & Molecular Biology

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

Annalisa Vetro et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2015)

Article Biochemistry & Molecular Biology

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

Nikolaos Charlaftis et al.

EMBO JOURNAL (2014)

Article Biochemistry & Molecular Biology

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

Johnny Loke et al.

HUMAN MOLECULAR GENETICS (2014)

Article Biochemistry & Molecular Biology

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

Anu Bashamboo et al.

HUMAN MOLECULAR GENETICS (2014)

Article Medicine, Research & Experimental

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

David Zangen et al.

JOURNAL OF CLINICAL INVESTIGATION (2014)

Article Urology & Nephrology

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

Anna Skarin Nordenvall et al.

JOURNAL OF UROLOGY (2014)

Review Endocrinology & Metabolism

Central Hypogonadotropic Hypogonadism: Genetic Complexity of a Complex Disease

Marco Marino et al.

INTERNATIONAL JOURNAL OF ENDOCRINOLOGY (2014)

Article Cell Biology

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

Dongli Wang et al.

GENES & DEVELOPMENT (2013)

Article Genetics & Heredity

XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication

Sharon Moalem et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)

Article Genetics & Heredity

Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle

Z-P Tan et al.

CLINICAL GENETICS (2012)

Article Cell Biology

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

Mathias S. Gierl et al.

DEVELOPMENTAL CELL (2012)

Article Obstetrics & Gynecology

Steroidogenic Factor-1 and Human Disease

Ranna El-Khairi et al.

SEMINARS IN REPRODUCTIVE MEDICINE (2012)

Article Biochemistry & Molecular Biology

Mammalian Testis-determining Factor SRY and the Enigma of Inherited Human Sex Reversal FRUSTRATED INDUCED FIT IN A BENT PROTEIN-DNA COMPLEX

Nelson B. Phillips et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2011)

Article Medicine, Research & Experimental

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

Edwina Sutton et al.

JOURNAL OF CLINICAL INVESTIGATION (2011)

Article Genetics & Heredity

XX males SRY negative: a confirmed cause of infertility

Annalisa Vetro et al.

JOURNAL OF MEDICAL GENETICS (2011)

Article Genetics & Heredity

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

Sabina Benko et al.

JOURNAL OF MEDICAL GENETICS (2011)

Article Multidisciplinary Sciences

DMRT1 prevents female reprogramming in the postnatal mammalian testis

Clinton K. Matson et al.

NATURE (2011)

Letter Medicine, General & Internal

A SOX9 Duplication and Familial 46,XX Developmental Testicular Disorder.

James J. Cox et al.

NEW ENGLAND JOURNAL OF MEDICINE (2011)

Article Multidisciplinary Sciences

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

Diana Lourenco et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)

Article Genetics & Heredity

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

Anu Bashamboo et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

Article Biochemistry & Molecular Biology

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

Juan Carlos Polanco et al.

HUMAN MOLECULAR GENETICS (2010)

Article Genetics & Heredity

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

Anna Biason-Lauber et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2009)

Article Genetics & Heredity

Chromosome 8p23.1 Deletions as a Cause of Complex Congenital Heart Defects and Diaphragmatic Hernia

Margaret J. Wat et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)

Article Biochemistry & Molecular Biology

Somatic Sex Reprogramming of Adult Ovaries to Testes by FOXL2 Ablation

N. Henriette Uhlenhaut et al.

Article Genetics & Heredity

SERKAL syndrome: An autosomal-recessive disorder caused by a loss-of-function mutation in WNT4

Hannah Mandel et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Article Endocrinology & Metabolism

Differential diagnosis of disorders of sex development in Egypt

I. Mazen et al.

HORMONE RESEARCH (2008)

Review Endocrinology & Metabolism

Role of the GATA family of transcription factors in endocrine development, function, and disease

Robert S. Viger et al.

MOLECULAR ENDOCRINOLOGY (2008)

Article Multidisciplinary Sciences

Correct dosage of Fog2 and Gata4 transcription factors is critical for fetal testis development in mice

Gerrit J. Bouma et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)

Article Endocrinology & Metabolism

Maximal activity of the Luteinizing Hormone β-subunit gene requires β-catenin

Travis B. Salisbury et al.

MOLECULAR ENDOCRINOLOGY (2007)

Article Genetics & Heredity

R-spondin1 is essential in sex determination, skin differentiation and malignancy

Pietro Parma et al.

NATURE GENETICS (2006)

Article Multidisciplinary Sciences

Follicle-stimulating hormone/cAMP regulation of aromatase gene expression requires β-catenin

Tehnaz N. Parakh et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)

Article Pediatrics

Consensus statement on management of intersex disorders

Peter A. Lee et al.

PEDIATRICS (2006)

Article Cell Biology

A role for the mitogen-activated protein kinase kinase kinase 1 in epithelial wound healing

Maoxian Deng et al.

MOLECULAR BIOLOGY OF THE CELL (2006)

Article Endocrinology & Metabolism

Epidemiology and initial management of ambiguous genitalia at birth in Germany

Ute Thyen et al.

HORMONE RESEARCH (2006)

Article Endocrinology & Metabolism

A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal

JG Assumpçao et al.

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (2005)

Article Medicine, General & Internal

A WNT4 mutation associated with Mullerian-duct regression and virilization in a 46,XX woman

A Biason-Lauber et al.

NEW ENGLAND JOURNAL OF MEDICINE (2004)

Article Genetics & Heredity

46,XX sex reversal with partial duplication of chromosome arm 22q

T Seeherunvong et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)

Article Multidisciplinary Sciences

Wnt4 overexpression disrupts normal testicular vasculature and inhibits testosterone synthesis by repressing steroidogenic factor 1/β-catenin synergy

BK Jordan et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)

Article Biochemistry & Molecular Biology

Convergence of Wnt signaling and steroidogenic factor-1 (SF-1) on transcription of the rat inhibin α gene

BM Gummow et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2003)

Article Genetics & Heredity

46,XY gonadal dysgenesis: Evidence for autosomal dominant transmission in a large kindred

C Le Caignec et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)

Article Genetics & Heredity

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

F Laumonnier et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2002)

Article Psychology, Clinical

How common is intersex? A response to Anne Fausto-Sterling

L Sax

JOURNAL OF SEX RESEARCH (2002)

Article Multidisciplinary Sciences

MEKK1 is essential for cardiac hypertrophy and dysfunction induced by Gq

T Minamino et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)

Review Endocrinology & Metabolism

Deletions of 9p and the quest for a conserved mechanism of sex determination

C Ottolenghi et al.

MOLECULAR GENETICS AND METABOLISM (2000)