Results 51 to 60 of about 1,925,886 (292)

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins   +9 more
wiley   +1 more source

A method for polyclonal antigen-specific T cell-targeted genome editing (TarGET) for adoptive cell transfer applications

open access: yesMolecular Therapy: Methods & Clinical Development, 2023
Adoptive cell therapy of donor-derived, antigen-specific T cells expressing native T cell receptors (TCRs) is a powerful strategy to fight viral infections in immunocompromised patients.
Darya Palianina   +5 more
doaj   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa   +4 more
wiley   +1 more source

Latent Epstein-Barr virus infection and the germinal center reaction [PDF]

open access: yes, 2007
Epstein-Barr virus (EBV) is a γ-herpes virus which preferentially infects human B lymphocytes. It is highly adapted to persist in B cells since it encodes for proteins which mimic several cellular proteins playing an important role in B cell ...
Rastelli, Julia, Rastelli, J.
core   +1 more source

Characterization of murine gammaherpesvirus 68 glycoprotein B (gB) homolog: similarity to Epstein-Barr virus gB (gp110) [PDF]

open access: yes, 1994
Murine gammaherpesvirus 68 (MHV-68) is a natural pathogen of murid rodents and displays similar pathobiological characteristics to those of the human gammaherpesvirus Epstein-Barr virus (EBV).
Sunil-Chandra, N P   +4 more
core  

Reframing the Gut–Brain Axis: The Gut Wall as a Neural Immune Interface in Multiple Sclerosis and Autoimmune Neurological Diseases

open access: yesAnnals of Neurology, EarlyView.
Gut wall physiology in multiple sclerosis (MS) and autoimmune neurologic diseases remains underexplored but may span gut barrier dysfunction, enteric glial targeting, mucosal immune dysregulation, and autoimmune targets within the enteric nervous system (ENS).
Federico Montini   +4 more
wiley   +1 more source

Transplantation immunology: aspects of allo- and EBV-specific reactivity : the EBV non-infected elderly - factors of resistance [PDF]

open access: yes, 2010
Defining the relevant components of cellular alloimmunity remains an important unresolved issue in clinical transplantation. The most promising marker of cellular alloreactivity available to date is donor-specific secretion of interferon-gamma (IFN-) as ...
Durovic, Bojana
core   +1 more source

Type I Interferon Drives Dysfunction of a Distinct CD8+ HLA‐DRB1+ T Cell Subset in Systemic Lupus Erythematosus

open access: yesArthritis &Rheumatology, EarlyView.
Objective Systemic lupus erythematosus (SLE) is characterized by type I interferon (IFN) signaling and adaptive immune dysregulation. We previously identified hypomethylation of HLA‐DRB1 and STAT1 in SLE CD8+ T cells, enabling aberrant IFN‐driven HLA‐DRB1 expression and expansion of a distinct CD8+ T cell subset. This study characterized CD8+ HLA‐DRB1+
Huizhong Long   +3 more
wiley   +1 more source

How Human Tumor Viruses Make Use of Autophagy

open access: yesCells, 2012
Viruses commandeer regulatory pathways of their hosts to optimize their success as cellular parasites. The human tumor viruses, Epstein-Barr Virus (EBV), Kaposi’s Sarcoma Herpesvirus (KSHV), Hepatitis B Virus (HBV), and Hepatitis C Virus (HCV) all affect
Bill Sugden, Zachary L. Pratt
doaj   +1 more source

Scales of Magt1 Gene: Novel Mutations, Different Presentations

open access: yesIranian Journal of Allergy, Asthma and Immunology, 2022
Loss-of-function mutations in magnesium transporter 1 (MAGT1) gene cause X-linked magnesium deficiency with Epstein–Barr virus (EBV) infection and neoplasm (X-MEN), a disease with quite diverse clinical and immunological consequences.
Sule Haskologlu   +8 more
doaj   +1 more source

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