Publications by authors named "V R Harley"
[This corrects the article DOI: 10.3389/fcell.2024.
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- Prenatal exposure to bisphenol A (BPA) is linked to increased autism symptoms and diagnosis in young boys with low aromatase gene activity.
- Research indicates that high BPA levels impact brain methylation patterns related to aromatase, which may mediate the risk of autism.
- Male mice studies suggest that mid-gestation BPA exposure causes ASD-like behaviors, but these can be improved with the intervention of 10-hydroxy-2-decenoic acid (10HDA).
ATR-X (alpha thalassemia, mental retardation, X-linked) syndrome features genital and testicular abnormalities including atypical genitalia and small testes with few seminiferous tubules. Our mouse model recapitulated the testicular defects when was deleted in Sertoli cells (ScKO) which displayed G2/M arrest and apoptosis. Here, we investigated the mechanisms underlying these defects.
View Article and Find Full Text PDFBackground: Disorders/differences of sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. With overlapping phenotypes and multiple genes involved, poor diagnostic yields are achieved for many of these conditions. The current DSD diagnostic regimen can be augmented by investigating transcriptome/proteome in vivo, but it is hampered by the unavailability of affected gonadal tissue at the relevant developmental stage.
View Article and Find Full Text PDFSOX9 is a key transcription factor for testis determination and development. Mutations in and around the gene contribute to Differences/Disorders of Sex Development (DSD). However, a substantial proportion of DSD patients lack a definitive genetic diagnosis.
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