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A novel POT1-TPD presentation: A germline pathogenic POT1 variant discovered in a patient with newly diagnosed posterior fossa ependymoma.
Cancer Genet
January 2025
Cincinnati Children's Hospital Medical Center, Division of Oncology, Cincinnati, OH, USA; University of Cincinnati College of Medicine, Cincinnati, OH, USA. Electronic address:
Introduction: POT1 tumor predisposition (POT1-TPD) is an autosomal dominant disorder characterized by increased lifetime malignancy risk. Melanoma, angiosarcoma, and chronic lymphocytic leukemia are the most frequently reported malignancies [1]. Protection of telomeres protein 1 (POT1) is part of the shelterin protein complex to maintain/protect telomeres [2].
View Article and Find Full Text PDFSurveying helix 12 dynamics within constitutively active estrogen receptors using bipartite tetracysteine display.
J Biol Chem
January 2025
Department of Chemistry and Biochemistry, Ohio University, Athens, OH 45701, USA; Molecular and Cellular Biology Program, Ohio University, Athens, OH 45701, USA; Edison Biotechnology Institute, Ohio University, Athens, OH 45701, USA.
Somatic Y537S and D538G mutations within the estrogen receptor alpha ligand-binding domain (ERα-LBD) have been linked to enhanced cell proliferation, survival, and metastases in ER-positive breast cancers. Such mutations are thought to confer ligand-independent receptor activation by increasing the flexibility of helix 12 (H12), a segment within the ERα-LBD that acts as a dynamic regulator of ERα activity. We employed bipartite tetracysteine display coupled with the biarsenical profluorophore FlAsH-EDT to monitor ligand-independent structural transitions of H12 in ERα-LBDs that include Y537S or D538G mutations.
View Article and Find Full Text PDFAmelioration of premature aging in Werner syndrome stem cells by targeting SHIP/AKT pathway.
Cell Biosci
January 2025
School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong S.A.R., China.
Background: Pathogenic or null mutations in WRN helicase is a cause of premature aging disease Werner syndrome (WS). WRN is known to protect somatic cells including adult stem cells from premature senescence. Loss of WRN in mesenchymal stem cells (MSCs) not only drives the cells to premature senescence but also significantly impairs the function of the stem cells in tissue repair or regeneration.
View Article and Find Full Text PDFP3 site-directed mutagenesis: An efficient method based on primer pairs with 3'-overhangs.
J Biol Chem
January 2025
Rosalind and Morris Goodman Cancer Institute, McGill University, Montreal, Quebec H3A 1A3, Canada; Department of Medicine, McGill University, Montreal, Quebec H3A 1A3, Canada; Department of Biochemistry, McGill University, Montreal, Quebec H3A 1A3, Canada; McGill University Health Center, Montreal, Quebec H3A 1A3, Canada. Electronic address:
Site-directed mutagenesis is a fundamental tool indispensable for protein and plasmid engineering. An important technological question is how to achieve the efficiency at the ideal level of 100%. Based on complementary primer pairs, the QuickChange method has been widely used, but it requires significant improvements due to its low efficiency and frequent unwanted mutations.
View Article and Find Full Text PDFAssociation of mitochondrial DNA copy number in peripheral blood with risk and prognosis in acute aortic syndrome.
J Mol Diagn
January 2025
Department of Cardiology, Xinqiao Hospital, Third Military Medical University (Army Medical University), Chongqing, China. Electronic address:
Previous studies have reported that mtDNA-CN of blood was associated with a series of aging-related diseases. However, it remains unknown whether mtDNA-CN can be a potential biomarker of acute aortic syndromes (AAS). The mtDNA-CN in blood of 190 male patients with AAS and 207 healthy controls were detected by standardized qPCR-based assay.
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