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Extracranial arteriovenous malformations (eAVMs) are complex vascular lesions characterized by anomalous arteriovenous connections, vascular instability, and disruptions in endothelial cell (EC)-to-mural cell (MC) interactions. This study sought to determine whether eAVM-MCs could induce endothelial-to-mesenchymal transition (EndMT), a process known to disrupt vascular integrity, in the eAVM microenvironment. eAVM and paired control tissues were analyzed using RT-PCR for EC (, , and ) and EndMT-specific markers (, , , /.
View Article and Find Full Text PDFAge-Related Choroidal Involution Is Associated with the Senescence of Endothelial Progenitor Cells in the Choroid.
Biomedicines
November 2024
Department of Ophthalmology, Maisonneuve-Rosemont Hospital Research Center, University of Montréal, Montréal, QC H1T 2M4, Canada.
Choroidal involution is a common feature of age-related ischemic retinopathies such as age-related macular degeneration (AMD). It is now well recognized that endothelial progenitor cells (EPCs) are essential to endothelial repair processes and in maintaining vascular integrity. However, the contribution of EPCs and the role of senescence in age-related choroidal vascular degeneration remain to be investigated.
View Article and Find Full Text PDFMammalian red blood cells are generated via a terminal erythroid differentiation pathway culminating in cell polarization and enucleation. Actin filament polymerization is critical for enucleation, but the molecular regulatory mechanisms remain poorly understood. We utilized publicly available RNA-seq and proteomics datasets to mine for actin-binding proteins and actin- nucleation factors differentially expressed during human erythroid differentiation and discovered that a focal adhesion protein-Tensin-1-dramatically increases in expression late in differentiation.
View Article and Find Full Text PDFBackground: Germline haplodeficiency (RHD) is associated with thrombocytopenia, platelet dysfunction and predisposition to myeloid malignancies. Platelet expression profiling of a RHD patient showed decreased encoding for the A subunit of factor XIII, a transglutaminase that cross-links fibrin and induces clot stabilization. FXIII-A is synthesized by hematopoietic cells, megakaryocytes and monocytes.
View Article and Find Full Text PDFPediatric Myeloid Neoplasms With UBTF Tandem Duplications: Morphologic, Immunophenotypic, and Clinical Characterization.
Am J Surg Pathol
January 2025
Department of Pathology, St. Jude Children's Research Hospital.
Article Synopsis
- Tandem duplications (TDs) in the UBTF gene are a recently identified genetic alteration linked to pediatric and adult acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS), establishing UBTF-TD as a distinct subtype of AML.
- A study of 27 pediatric patients revealed that UBTF-TD is commonly associated with symptoms like cytopenia and characteristic changes in bone marrow, such as erythroid hyperplasia and trilineage dysplasia.
- The findings suggest that patients with MDS and AML exhibiting UBTF-TD have similar prognoses, indicating that both conditions may represent different manifestations of the same underlying disease.
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