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Sex disparities in the association between rare earth elements exposure and genetic mutation frequencies in lung cancer patients.
Sci Rep
January 2025
Department of Oncology, Senior Department of Respiratory and Critical Care Medicine, The Eighth Medical Center of Chinese PLA General Hospital, No.17 A Heishanhu Road, Haidian District, Beijing, 100853, China.
The ubiquitous use of rare earth elements (REEs) in modern living environments raised concern about their impact on human health. With the detrimental and beneficial effects of REEs reported by different studies, the genuine role of REEs in the human body remains a mystery. This study explored the association between REEs and genetic mutations in patients with lung adenocarcinoma (LUAD).
View Article and Find Full Text PDFGEMIN5 and neurodevelopmental diseases: from functional insights to disease perception.
Neural Regen Res
January 2025
Genome Dynamics and Function, Centro de Biología Molecular Severo Ochoa, CSIC-UAM, Madrid, Spain.
GEMIN5 is a predominantly cytoplasmic multifunctional protein, known to be involved in recognizing snRNAs through its WD40 repeats domain placed at the N-terminus. A dimerization domain in the middle region acts as a hub for protein-protein interaction, while a non-canonical RNA-binding site is placed towards the C-terminus. The singular organization of structural domains present in GEMIN5 enables this protein to perform multiple functions through its ability to interact with distinct partners, both RNAs and proteins.
View Article and Find Full Text PDFLow dose DNA methyltransferase inhibitors potentiate PARP inhibitors in homologous recombination repair deficient tumors.
Breast Cancer Res
January 2025
Department of Medicine (Hematology/Oncology), School of Medicine, University of California San Francisco, 1450 Third St, San Francisco, CA, 94158, USA.
Background: Poly (ADP-Ribose) polymerase inhibitors are approved for treatment of tumors with BRCA1/2 and other homologous recombination repair (HRR) mutations. However, clinical responses are often not durable and treatment may be detrimental in advanced cancer due to excessive toxicities. Thus we are seeking alternative therapeutics to enhance PARP-directed outcomes.
View Article and Find Full Text PDFApolipoprotein E (APOE) has multiple functions in metabolism and immunoregulation. Its common germline variants APOE2, APOE3 and APOE4 give rise to three functionally distinct gene products. Previous studies reported yin-yang roles of APOE2 and APOE4 in immunological processes, but their effects in hematopoietic stem cell transplantation (HSCT) have never been studied.
View Article and Find Full Text PDFNovel biallelic MCMDC2 variants were associated with meiotic arrest and nonobstructive azoospermia.
Asian J Androl
January 2025
Department of Andrology, The Center for Men's Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China.
Nonobstructive azoospermia (NOA), one of the most severe types of male infertility, etiology often remains unclear in most cases. Therefore, this study aimed to detect four biallelic detrimental variants (0.5%) in the minichromosome maintenance domain containing 2 (MCMDC2) genes in 768 NOA patients by whole-exome sequencing (WES).
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