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Somatic mutations and DNA methylation identify a subgroup of poor prognosis within lower-risk myelodysplastic syndromes.
Hemasphere
January 2025
Université Paris Cité, Institut Cochin, INSERM U1016, CNRS UMR8104 Assistance Publique-Hôpitaux de Paris.Centre, Laboratory of Hematology, Hôpital Cochin Paris France.
Lower risk (LR) myelodysplastic syndromes (MDS) are heterogeneous hematopoietic stem and progenitor disorders caused by the accumulation of somatic mutations in various genes including epigenetic regulators that may produce convergent DNA methylation patterns driving specific gene expression profiles. The integration of genomic, epigenomic, and transcriptomic profiling has the potential to spotlight distinct LR-MDS categories on the basis of pathophysiological mechanisms. We performed a comprehensive study of somatic mutations and DNA methylation in a large and clinically well-annotated cohort of treatment-naive patients with LR-MDS at diagnosis from the EUMDS registry (ClinicalTrials.
View Article and Find Full Text PDFPulmonary Delivery of Nonviral Nucleic Acid-Based Vaccines With Spotlight on Gold Nanoparticles.
Wiley Interdiscip Rev Nanomed Nanobiotechnol
January 2025
School of Pharmacy and Waterloo Institute of Nanotechnology, University of Waterloo, 200 University Avenue West, Waterloo, Ontario, Canada.
Nucleic acid-based vaccines are leading-edge tools in developing next-generation preventative care. Much research has been done to convert vaccine gene therapy from an invasive to a noninvasive administration approach. The lung's large surface area and permeability make the pulmonary route a promising noninvasive delivery option for vaccines, with systemic and local applications.
View Article and Find Full Text PDFA Global Perspective of -Related Parkinson's Disease: A Narrative Review.
Genes (Basel)
December 2024
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Parkinson's disease (PD) is considered to be the second most prominent neurodegenerative disease and has a global prevalence. Glucocerebrosidase () gene mutations represent a significant hereditary risk factor for the development of PD and have a profound impact on the motor and cognitive progression of the disease. The aim of this review is to summarize the literature data on the prevalence, type, and peculiarities of mutations in populations of different ethnic backgrounds.
View Article and Find Full Text PDFWhole-exome sequencing association study reveals genetic effects on tumor microenvironment components in nasopharyngeal carcinoma.
J Clin Invest
January 2025
State Key Laboratory of Oncology in South China, Guangdong Key Laboratory of Nasopharyngeal Carcinoma Diagnosis and Therapy, Guangdong Provincial Clinical Research Center for Cancer, Sun Yat-sen University Cancer Center - Zhongshan School of Medicine.
Nasopharyngeal carcinoma (NPC) presents a substantial clinical challenge due to the limited understanding of its genetic underpinnings. Here we conduct the largest scale whole-exome sequencing association study of NPC to date, encompassing 6,969 NPC cases and 7,100 controls. We unveil 3 germline genetic variants linked to NPC susceptibility: a common rs2276868 in RPL14, a rare rs5361 in SELE, and a common rs1050462 in HLA-B.
View Article and Find Full Text PDFTicks without borders: microbiome of immature neotropical tick species parasitizing migratory songbirds along northern Gulf of Mexico.
Front Cell Infect Microbiol
December 2024
School of Biological, Environmental, and Earth Sciences, University of Southern Mississippi, Hattiesburg, MS, United States.
Article Synopsis
- * Researchers collected and analyzed 421 ticks from various migratory songbird species, identifying key microbial communities and several pathogens present in those ticks.
- * Findings reveal that specific microbial interactions among ticks could shape pathogen dynamics, highlighting "hotspots" where migrating birds may contribute to the spread of ticks and their associated diseases over long distances.
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