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

Over-expression of DMRT1 induces the male pathway in embryonic chicken gonads

(2014) Luke S. Lambeth et al.   DEVELOPMENTAL BIOLOGY

Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals

(2014) Eleni Kousta et al.   Hormones-International Journal of Endocrinology and Metabolism

Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene

(2014) Bala Bhagavath et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Enhancer biology and enhanceropathies

(2014) Edwin Smith et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

A rare case of 46, XX SRY-negative male with a ∼74-kb duplication in a region upstream of SOX9

(2013) Bing Xiao et al.   European Journal of Medical Genetics

Fine Time Course Expression Analysis Identifies Cascades of Activation and Repression and Maps a Putative Regulator of Mammalian Sex Determination

(2013) Steven C. Munger et al.   PLoS Genetics

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

Steroidogenic Factor-1 and Human Disease

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

Gene Mutations Associated with Anomalies of Human Gonad Formation

(2012) A. Bashamboo et al.   Sexual Development

Setting up and maintaining differential insulators and boundaries for genomic imprinting

(2011) Adele Murrell   Biochemistry and Cell Biology

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

Clinical traits and molecular findings in 46,XX males

(2010) Marisol López et al.   CLINICAL GENETICS

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

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

Genome-wide analysis of DNA binding and transcriptional regulation by the mammalian Doublesex homolog DMRT1 in the juvenile testis

(2010) M. W. Murphy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2010) I. Georg et al.   Sexual Development

Histone H3 lysine 4 (H3K4) methylation in development and differentiation

(2009) Joel C. Eissenberg et al.   DEVELOPMENTAL BIOLOGY

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

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

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

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

(2009) Craig A. Smith et al.   NATURE

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

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

Smad3 activates the Sox9-dependent transcription on chromatin

(2008) Takayuki Furumatsu et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

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

(2008) Ryohei Sekido et al.   NATURE