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EBV-specific T-cell immunity: relevance for multiple sclerosis.
Front Immunol
December 2024
Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster, Germany.
Genetic and environmental factors jointly determine the susceptibility to develop multiple sclerosis (MS). Improvements in the design of epidemiological studies have helped to identify consistent environmental risk associations such as the increased susceptibility for MS following Epstein-Barr virus (EBV) infection, while biological mechanisms that drive the association between EBV and MS remain incompletely understood. An increased and broadened repertoire of antibody and T-cell immune responses to EBV-encoded antigens, especially to the dominant CD4 T-cell EBV nuclear antigen 1 (EBNA1), is consistently observed in patients with MS, indicating that protective EBV-specific immune responses are deregulated in MS and potentially contribute to disease development.
View Article and Find Full Text PDFNovel rhesus macaque immunoglobulin germline genes identified by three sequencing approaches.
Front Immunol
December 2024
Aaron Diamond AIDS Research Center, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, United States.
Introduction: Rhesus macaques have long been a focus of research for understanding immune responses to human pathogens due to their close phylogenetic relationship with humans. As rhesus macaque antibody germlines show high degrees of polymorphism, the spectrum of database-covered genes expressed in individual macaques remains to be determined.
Methods: Here, four rhesus macaques infected with SHIV became a study of interest because they developed broadly neutralizing antibodies against HIV-1.
Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening.
Front Public Health
December 2024
Central Laboratory, Ganzhou Maternal and Child Health Hospital, Ganzhou, Jiangxi, China.
Background: Tandem mass spectrometry (MS/MS) is a crucial technique for detecting inborn errors of metabolism (IEM) in newborns. However, the high false positive rate poses challenges in diagnosing specific types of diseases. Therefore, this study aimed to evaluate the role of targeted next-generation sequencing (NGS) in the accurate diagnosis of positive samples identified through MS/MS screening.
View Article and Find Full Text PDFThe evaluation of targeted exome sequencing of candidate genes in a Han Chinese population with primary open-angle glaucoma.
Hum Mol Genet
January 2025
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, 83 Fenyang Road, Xuhui District, Shanghai 200031, China.
Primary open-angle glaucoma (POAG), known as a common ocular disease with genetic heterogeneity, is characterized by progressive optic disc atrophy and visual field defects. This study aimed to assess the contribution of previously reported POAG-associated genes and investigate potential functional variations and genotype-phenotype correlations in a Han Chinese population. DNA from 500 cases and 500 controls was pooled and sequenced using a customized panel of 398 candidate genes.
View Article and Find Full Text PDFDelineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Eur J Neurol
January 2025
Neuromuscular Unit, Neurology Department, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Background: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy. In this study, we aimed to analyze the genetic spectrum and describe phenotypic features in a large cohort from Türkiye.
Methods: Demographic and clinical findings were recorded.
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