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Filename: models/Detail_model.php
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Function: insertAPISummary
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NR2F2 encodes COUP-TFII, an orphan nuclear receptor required for the development of the steroidogenic lineages of the murine fetal testes and ovaries. Pathogenic variants in human NR2F2 are associated with testis formation in 46,XX individuals, however, the function of COUP-TFII in the human testis is unknown. We report a de novo heterozygous variant in NR2F2 (c.737G > A, p.Arg246His) in a 46,XY under-masculinized boy with primary hypogonadism. The variant, located within the ligand-binding domain, is predicted to be highly damaging. In vitro studies indicated that the mutation does not impact the stability or subcellular localization of the protein. NR5A1, a related nuclear receptor that is a key factor in gonad formation and function, is known to physically interact with COUP-TFII to regulate gene expression. The mutant protein did not affect the physical interaction with NR5A1. However, in-vitro assays demonstrated that the mutant protein significantly loses the inhibitory effect on NR5A1-mediated activation of both the LHB and INSL3 promoters. The data support a role for COUP-TFII in human testis formation. Although mutually antagonistic sets of genes are known to regulate testis and ovarian pathways, we extend the list of genes, that together with NR5A1 and WT1, are associated with both 46,XX and 46,XY DSD.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11294483 | PMC |
http://dx.doi.org/10.1038/s41598-024-68860-3 | DOI Listing |
BMJ Case Rep
December 2024
Pathology and Laboratory Science, Showa University Fujigaoka Hospital, Yokohama, , Japan
Rhabdoid differentiation is an indicator of poor prognosis that is often seen in renal cell carcinoma; however, it is also rarely seen in non-renal tumours. Therefore, pathologists should carefully review this finding and report. This report describes the first case of a seminoma of testicular origin that developed rhabdoid differentiation.
View Article and Find Full Text PDFFront Immunol
December 2024
Reproductive Immunology Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Background: To address knowledge gaps, this study aimed to investigate the involvement of inflammasomes in the etiology of azoospermia. This study focused on the gene expression of key inflammasome components, including , and .
Methods: We analyzed gene expression in blood and testicular tissue from patients with obstructive azoospermia (OA) and non-obstructive azoospermia (NOA).
BMC Urol
December 2024
Department of Urology, 920th Hospital of Joint Logistic Support Force, Kunming, 650000, China.
Background: To analyze the safety and efficacy of microsurgical subinguinal varicocelectomy(MSV) performed with and without preservation of all testicular arteries and lymphatic system.
Methods: All of the 98 patients with varicocele who underwent MSV were included in the analysis. Fifty-eight male patients surgically underwent MSV with preservation of all testicular arteries and lymphatic system(Group 1).
Reprod Toxicol
December 2024
Laboratory of Animal Endocrine and Reproductive Physiology, Department of Physiology, Federal University of Paraná, Curitiba-Brazil. Electronic address:
The endocannabinoid system (ECS) plays a pivotal role in reproductive physiology, including gonadal development, though its influence on testis and ovary development has only recently gained attention. The ECS comprises lipid-derived ligands such as anandamide (AEA) and 2-arachidonoylglycerol (2-AG), along with cannabinoid receptors CB1 and CB2, which are expressed in various gonadal cells. Emerging research indicates that ECS signaling is critical for testosterone synthesis and gonadal cell proliferation and differentiation.
View Article and Find Full Text PDFCell Mol Biol (Noisy-le-grand)
December 2024
Epidemiology, Liver and Digestive Research Center, Research Institute for Health Development, Kurdistan University of Medical Sciences, Sanandaj, Iran.
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