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Unlabelled: In most cancers, including endometrial cancer, tumor suppressor genes harboring inactivating mutations have been systematically cataloged. However, locus-specific epigenetic alterations contributing to cancer initiation and progression remain only partly described, creating knowledge gaps about functionally significant tumor suppressors and underlying mechanisms associated with their inactivation. Here, we show that PAX2 is an endometrial tumor suppressor recurrently inactivated by a distinct epigenetic reprogramming event not associated with promoter hypermethylation.
View Article and Find Full Text PDFA Maternal Loss-of-Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report.
Mol Genet Genomic Med
January 2025
Department of Biology, Università Degli Studi Di Napoli "Federico II", Naples, Italy.
Background: The KHDC3L gene encodes a component of the subcortical maternal complex (SCMC). Biallelic mutations in this gene cause 5%-10% of biparental hydatidiform moles (BiHM), and a few maternal deletions in KHDC3L have been identified in women with recurrent pregnancy loss (RPL).
Method: In this study, we had a patient with a history of 10 pregnancy or neonatal losses, including spontaneous abortions, neonatal deaths, and molar pregnancy.
[A Case of Spontaneous Rupture of Chromophobe Renal Cell Carcinoma].
Hinyokika Kiyo
December 2024
The Department of Pathology, Nihonkai General Hospital.
Spontaneous rupture of renal cell carcinoma (RCC) occurs in 0.3-0.6% of all RCC cases.
View Article and Find Full Text PDFLipid imbalance and inflammatory oxylipin cascade at the maternal-fetal interface in recurrent spontaneous abortion.
Heliyon
December 2024
Department of Obstetrics and Gynaecology, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Background: Recurrent spontaneous abortion (RSA) is intricately linked to metabolic dysregulation at the maternal-fetal interface during early gestation. Abnormal levels of essential fatty acids and downstream oxylipins in decidua and chorionic villi have been identified as potential risk factors for RSA. Oxylipins have been linked to excessive inflammation, which might disrupt maternal-fetal immune tolerance, potentially contributing to RSA.
View Article and Find Full Text PDFThe landscape of recurrent spontaneous abortion registered on clinical trials.gov.
Front Endocrinol (Lausanne)
January 2025
Department of Good Clinical Practice, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Objective: Recurrent spontaneous abortion (RSA) presents a significant challenge in the field of reproductive medicine, as effective treatments remain limited despite extensive research efforts. A comprehensive understanding of current RSA clinical trials is essential for enhancing trial design and identifying existing research gaps. The aim of this study is to characterize RSA related clinical trials registered on Clinical Trials.
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