Background: Cryptorchidism is the absence of one or both testicles in the scrotum at birth, being a risk factor for testis cancer and infertility. The most effective method to treat cryptorchidism is orchiopexy, followed by human chorionic gonadotropin (hCG) therapy; however, a portion of treated patients do not show a significant improvement in testis volume and vascularization after adjuvant therapy.
Methods: In this study, we generated an in vitro model to predict the patient response to hCG by cultivating and treating primary cells derived from five cryptorchid patients' biopsies of gubernaculum testis, the ligament that connects the testicle to the scrotum.
Crop genomes accumulate deleterious mutations-a phenomenon known as the cost of domestication. Precision genome editing has been proposed to eliminate such potentially harmful mutations; however, experimental demonstration is lacking. Here we identified a deleterious mutation in the tomato transcription factor SUPPRESSOR OF SP2 (SSP2), which became prevalent in the domesticated germplasm and diminished DNA binding to genome-wide targets.
View Article and Find Full Text PDFUndescended testis and testicular torsion represent two frequent andrological diseases that affect the pediatric age. Despite these testicular disorders having different causes, they both negatively influence fertility in adulthood mainly due to the accumulation of reactive oxygen species (ROS), which represents the primary molecular damage underlying their long-term effects. The gold standard of treatment for both pathologies is surgery; however, it cannot guarantee an optimal fertility outcome in all clinical cases, underscoring the need to identify effective adjuvant therapies that may target the augmented ROS levels.
View Article and Find Full Text PDFA DNA sequence pattern, or "motif", is an essential representation of DNA-binding specificity of a transcription factor (TF). Any particular motif model has potential flaws due to shortcomings of the underlying experimental data and computational motif discovery algorithm. As a part of the Codebook/GRECO-BIT initiative, here we evaluated at large scale the cross-platform recognition performance of positional weight matrices (PWMs), which remain popular motif models in many practical applications.
View Article and Find Full Text PDFTesticular descent is a crucial event in male sexual development, and alterations in this process during gestation can lead to reduced fertility in adulthood. Cryptorchidism, i.e.
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