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| http://dx.doi.org/10.1016/j.ebiom.2021.103703 | DOI Listing |
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Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case.
Mol Genet Genomic Med
February 2025
Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain.
Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-old boy presenting with psychomotor regression, spasticity, and dystonic postures.
Methods And Results: Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in the FUCA1 gene.
Circulating Tumor DNA as a Marker of Recurrence Risk in Stage III Colorectal Cancer: The α-CORRECT Study.
J Surg Oncol
January 2025
Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, and Department of Epidemiology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Background And Objectives: Identification of colorectal cancer (CRC) patients at high risk of recurrence could be of substantial clinical use. We evaluated the association of ctDNA status, using a tumor-informed assay, with recurrence-free survival (RFS).
Methods: Stage III CRC patients were enrolled between 2016 and 2020.
Diffuse large B-cell lymphoma cell-derived exosomal NSUN2 stabilizes PDL1 to promote tumor immune escape and M2 macrophage polarization in a YBX1-dependent manner.
Arch Biochem Biophys
January 2025
Department of Nuclear Medicine, Hefei BOE Hospital, Hefei City, Anhui Province, 241000, China. Electronic address:
Background: Diffuse large B-cell lymphoma (DLBCL) is a prevalent and aggressive form of non-Hodgkin's lymphoma with a complex etiology. NOP2/Sun domain 2 (NSUN2) is an RNA methyltransferase that has been linked to the regulation of gene expression in various cancers. However, the function of NSUN2 in DLBCL, specifically its contribution to exosome-driven tumor progression, remains to be thoroughly elucidated.
View Article and Find Full Text PDFα-Synuclein distribution in olfactory mucosa and skin nerves in Parkinson disease associated with an EIF4G1 gene mutation.
J Neuropathol Exp Neurol
January 2025
Department of Clinical Neurosciences, Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
The EIF4G1 gene has been considered an autosomal dominant cause of Parkinson disease (PD), even if its role is still debated. The objective of this study was to describe the phenotype and α-synuclein distribution in peripheral tissues in 2 related PD patients (mother and daughter), who are carriers of the same variant in exon 10 of EIF4G1 (c.1216G>A, p.
View Article and Find Full Text PDFSpatial Localization of Collagen Hydroxylated Proline Site Variation as an Ancestral Trait in the Breast Cancer Microenvironment.
Matrix Biol
January 2025
Department of Pharmacology & Immunology, Proteomics Center, Medical University of South Carolina, Charleston, SC. Electronic address:
Collagen stroma interactions within the extracellular microenvironment of breast tissue play a significant role in breast cancer, including risk, progression, and outcomes. Hydroxylation of proline (HYP) is a common post-translational modification directly linked to breast cancer survival and progression. Changes in HYP status lead to alterations in epithelial cell signaling, extracellular matrix remodeling, and immune cell recruitment.
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