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The effect of HLA genotype on disease onset and severity in CTLA-4 insufficiency.
Front Immunol
January 2025
Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Introduction: Human Cytotoxic-T-lymphocyte-antigen-4 (CTLA-4) insufficiency caused by heterozygous germline mutations in is a complex immune dysregulation and immunodeficiency syndrome presenting with reduced penetrance and variable disease expressivity, suggesting the presence of disease modifiers that trigger the disease onset and severity. Various genetic and non-genetic potential triggers have been analyzed in CTLA-4 insufficiency cohorts, however, none of them have revealed a clear association to the disease. Multiple HLA haplotypes have been positively or negatively associated with various autoimmune diseases and inborn errors of immunity (IEI) due to the relevance of MHC in the strength of the T cell responses.
View Article and Find Full Text PDFMachine learning-driven identification of critical gene programs and key transcription factors in migraine.
J Headache Pain
January 2025
Clinical Systems Biology Laboratories, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Background: Migraine is a complex neurological disorder characterized by recurrent episodes of severe headaches. Although genetic factors have been implicated, the precise molecular mechanisms, particularly gene expression patterns in migraine-associated brain regions, remain unclear. This study applies machine learning techniques to explore region-specific gene expression profiles and identify critical gene programs and transcription factors linked to migraine pathogenesis.
View Article and Find Full Text PDFThe TRP Channels Serving as Chemical-to-Electrical Signal Converter.
Physiol Rev
January 2025
Department of Physiology and Membrane Biology, University of California, Davis, School of Medicine, Davis CA, 95616, USA.
Biology uses many signaling mechanisms. Among them, calcium and membrane potential are two prominent mediators for cellular signaling. TRPM4 and TRPM5, two calcium-activated monovalent cation-conducting ion channels, offer a direct linkage between these two signals.
View Article and Find Full Text PDF3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity.
Elife
January 2025
Center for Spatial and Functional Genomics, The Children's Hospital of Philadelphia, Philadelphia, United States.
The prevalence of childhood obesity is increasing worldwide, along with the associated common comorbidities of type 2 diabetes and cardiovascular disease in later life. Motivated by evidence for a strong genetic component, our prior genome-wide association study (GWAS) efforts for childhood obesity revealed 19 independent signals for the trait; however, the mechanism of action of these loci remains to be elucidated. To molecularly characterize these childhood obesity loci, we sought to determine the underlying causal variants and the corresponding effector genes within diverse cellular contexts.
View Article and Find Full Text PDFAnalysis of healthcare utilization before the diagnosis of radiologically isolated syndrome.
Mult Scler
January 2025
Rennes University, EHESP, CNRS, Inserm, ARENES UMR 6051, RSMS U 1309, Rennes, France.
Background: Previous studies have shown that people with multiple sclerosis (MS) had frequent healthcare visits up to 10 years before being diagnosed but with no information from magnetic resonance imaging (MRI) scans of the connection with the radiologically isolated syndrome (RIS).
Objective: To analyze healthcare use 3 years before the RIS diagnosis.
Methods: We examined healthcare usage before the first scan in RIS cases from 2010 to 2019.
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