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A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome
B cells and their secreted antibodies are fundamental for host-defense against pathogens. The generation of high-affinity class switched antibodies...
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A new approach: information gain algorithm-based k-nearest neighbors hybrid diagnostic system for Parkinson’s disease
Parkinson’s disease (PD) is a slow and insidiously progressive neurological brain disorder. The development of expert systems capable of...
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Population matched (pm) germline allelic variants of immunoglobulin (IG) loci: Relevance in infectious diseases and vaccination studies in human populations
Immunoglobulin ( IG ) loci harbor inter-individual allelic variants in many different germline IG variable, diversity and joining genes of the IG heavy...
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Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome
BackgroundTemple syndrome (TS14) is a rare imprinting disorder caused by maternal UPD14, imprinting defects or paternal microdeletions which lead to...
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Phage Immunoprecipitation Sequencing (PhIP-Seq) for Analyzing Antibody Epitope Repertoires Against Food Antigens
While thousands of food and environmental allergens have been reported, conventional methods for allergy testing typically rely on measuring...
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SNPInt-GPU: Tool for Epistasis Testing with Multiple Methods and GPU Acceleration
We present SNPInt-GPU, a software providing several methods for statistical epistasis testing. SNPInt-GPU supports GPU acceleration using the Nvidia...
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An Integrated Framework for Assessing the Quality of Non-invasive Fetal Electrocardiography Signals
PurposeNon-invasive fetal electrocardiography (fECG) offers crucial information for assessing early diagnosis of fetal distress and morbidity....
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The Current State of Healthcare Information Exchange (HIE) and Proposing a Blockchain HIE Infrastructure
While there is some HealthcareHealthcare InformationInformation Exchange (HIE) occurring through electronic channels within individualIndividual...
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Predicting phosphorylation sites using machine learning by integrating the sequence, structure, and functional information of proteins
BackgroundPost-translational modification (PTM) is a biological process that alters proteins and is therefore involved in the regulation of various...
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LAG3 ectodomain structure reveals functional interfaces for ligand and antibody recognition
The immune checkpoint receptor lymphocyte activation gene 3 protein (LAG3) inhibits T cell function upon binding to major histocompatibility complex...
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“Randomized trial of physical activity on quality of life and lung cancer biomarkers in patients with advanced stage lung cancer: a pilot study”
BackgroundLung cancer survivors need more options to improve quality of life (QoL). It is unclear to what extent patients with advanced stage disease...
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Efficient analysis of COVID-19 clinical data using machine learning models
Because of the rapid spread of COVID-19 to almost every part of the globe, huge volumes of data and case studies have been made available, providing...
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Parietal neurons encode information sampling based on decision uncertainty
During natural behavior, animals actively gather information that is relevant for learning or actions; however, the mechanisms of active sampling are...
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Bulk gDNA Sequencing of Antibody Heavy-Chain Gene Rearrangements for Detection and Analysis of B-Cell Clone Distribution: A Method by the AIRR Community
In this method we illustrate how to amplify, sequence, and analyze antibody/immunoglobulin (IG) heavy-chain gene rearrangements from genomic DNA that...
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Neurogenesis and neuronal differentiation in the postnatal frontal cortex in Down syndrome
Although Down syndrome (DS), the most common developmental genetic cause of intellectual disability, displays proliferation and migration deficits in...
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B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study
Hypogammaglobulinemia without B-cells is a subgroup of inborn errors of immunity (IEI) which is characterized by a significant decline in all serum...
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AIRR Community Guide to Planning and Performing AIRR-Seq Experiments
The development of high-throughput sequencing of adaptive immune receptor repertoires (AIRR-seq of IG and TR rearrangements) has provided a new...
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Clinical, Immunological, and Genetic Features in Patients with NFKB1 and NFKB2 Mutations: a Systematic Review
BackgroundInborn errors of immunity (IEIs) encompass various diseases with diverse clinical and immunological symptoms. Determining the...
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Modulating effects of Astragalus polysaccharide on immune disorders via gut microbiota and the TLR4/NF-κB pathway in rats with syndrome of dampness stagnancy due to spleen deficiency
The syndrome of dampness stagnancy due to spleen deficiency (DSSD) is relatively common globally. Although the pathogenesis of DSSD remains unclear,...
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Orexin neurons track temporal features of blood glucose in behaving mice
Does the brain track how fast our blood glucose is changing? Knowing such a rate of change would enable the prediction of an upcoming state and a...
