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| http://dx.doi.org/10.1080/15265161.2018.1546351 | DOI Listing |
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Plasma protein levels provide important insights into human disease, yet a comprehensive assessment of plasma proteomics across organs is lacking. Using large-scale multimodal data from the UK Biobank, we integrated plasma proteomics with organ imaging to map their phenotypic and genetic links, analyzing 2,923 proteins and 1,051 imaging traits across multiple organs. We uncovered 5,067 phenotypic protein-imaging associations, identifying both organ-specific and organ-shared proteomic relations, along with their enriched protein-protein interaction networks and biological pathways.
View Article and Find Full Text PDFGlobal insight into rare disease and orphan drug definitions: a systematic literature review.
BMJ Open
January 2025
Centre for Public Health, Institute of Clinical Sciences B, Royal Victoria Hospital, Queen's University Belfast School of Medicine, Dentistry and Biomedical Sciences, Belfast, UK.
Objectives: This study sheds light on the available global definitions, classifications, and criteria used for rare diseases (RDs), ultrarare diseases (URDs), orphan drugs (ODs) and ultraorphan drugs (UODs) and provides insights into the rationale behind these definitions.
Design: A systematic literature review was conducted to identify existing definitions and the criteria used to define RDs, ODs and their subtypes.
Data Sources: Searches were performed in the PubMed/Medline, Embase, Scopus and Web of Science (Science and Social Sciences Citation Index) databases covering articles published from 1985 to 2021.
Population-Level SARS-CoV-2 RT-PCR Cycle Threshold Values and Their Relationships with COVID-19 Transmission and Outcome Metrics: A Time Series Analysis Across Pandemic Years.
Viruses
January 2025
Antiguo Hospital Civil de Guadalajara, "Fray Antonio Alcalde", Guadalajara 44280, Mexico.
This study investigates the relationship between SARS-CoV-2 RT-PCR cycle threshold (Ct) values and key COVID-19 transmission and outcome metrics across five years of the pandemic in Jalisco, Mexico. Utilizing a comprehensive time-series analysis, we evaluated weekly median Ct values as proxies for viral load and their temporal associations with positivity rates, reproduction numbers (Rt), hospitalizations, and mortality. Cross-correlation and lagged regression analyses revealed significant lead-lag relationships, with declining Ct values consistently preceding surges in positivity rates and hospitalizations, particularly during the early phases of the pandemic.
View Article and Find Full Text PDFTranscriptomic Evidence Reveals the Dysfunctional Mechanism of Synaptic Plasticity Control in ASD.
Genes (Basel)
December 2024
Institute for Complex Systems and Mathematical Biology, King's College, University of Aberdeen, Old Aberdeen AB24 3UE, UK.
Background/objectives: A prominent endophenotype in Autism Spectrum Disorder (ASD) is the synaptic plasticity dysfunction, yet the molecular mechanism remains elusive. As a prototype, we investigate the postsynaptic signal transduction network in glutamatergic neurons and integrate single-cell nucleus transcriptomics data from the Prefrontal Cortex (PFC) to unveil the malfunction of translation control.
Methods: We devise an innovative and highly dependable pipeline to transform our acquired signal transduction network into an mRNA Signaling-Regulatory Network (mSiReN) and analyze it at the RNA level.
Unveiling the Mechanisms of a Remission in Major Depressive Disorder (MDD)-like Syndrome: The Role of Hippocampal Palmitoyltransferase Expression and Stress Susceptibility.
Biomolecules
January 2025
Research and Education Resource Center, Peoples Friendship University of Russia (RUDN University), 117198 Moscow, Russia.
Post-translational modifications of proteins via palmitoylation, a thioester linkage of a 16-carbon fatty acid to a cysteine residue, reversibly increases their affinity for cholesterol-rich lipid rafts in membranes, changing their function. Little is known about how altered palmitoylation affects function at the systemic level and contributes to CNS pathology. However, recent studies suggested a role for the downregulation of palmitoyl acetyltransferase (DHHC) 21 gene expression in the development of Major Depressive Disorder (MDD)-like syndrome.
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