• Publications
  • Influence
Sexual Orientation, Controversy, and Science
TLDR
Ongoing political controversies around the world exemplify a long-standing and widespread preoccupation with the acceptability of homosexuality, and the most contentious scientific issues have concerned the causes of sexual orientation.
Epigenetic Predictor of Age
TLDR
A measurement of relevant sites in the genome could be a tool in routine medical screening to predict the risk of age-related diseases and to tailor interventions based on the epigenetic bio-age instead of the chronological age.
Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care
The goal of this update regarding the diagnosis and care of persons with disorders of sex development (DSDs) is to address changes in the clinical approach since the 2005 Consensus Conference, since
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
TLDR
Initial clinical indications for CES referrals and molecular diagnostic rates for different indications and for different test types are reported, and trio-CES was associated with higher molecular diagnostic yield than proband-Ces or traditional molecular diagnostic methods.
Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation.
Identification of SOX3 as an XX male sex reversal gene in mice and humans.
TLDR
SOX3 and SRY are functionally interchangeable in sex determination and support the notion that SRY evolved from SOX3 via a regulatory mutation that led to its de novo expression in the early gonad.
A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development.
TLDR
It is proposed that wild- type Z product is a negative regulator of male sex determination and is functional in wild-type females and therefore can explain other types of sex reversal in mammals, in particular, XY females containing SRY.
Genomic surveys by methylation-sensitive SNP analysis identify sequence-dependent allele-specific DNA methylation
TLDR
Recurrent phenomenon of sequence-dependent ASM has practical implications for mapping and interpreting associations of noncoding SNPs and haplotypes with human phenotypes.
Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans.
TLDR
It is shown that, in testicular Sertoli and Leydig cells, Wnt-4 up-regulates Dax1, a gene known to antagonize the testis-determining factor, Sry, which suggests that mammalian sex determination is sensitive to dosage, at multiple steps in its pathway.
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