Results 131 to 140 of about 134,051 (264)

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

open access: yes, 2022
Hepatology, EarlyView.
Robert J. Fontana   +6 more
wiley   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda   +5 more
wiley   +1 more source

Decoding the antiviral potential of eugenol, thymol and vanillin against human cytomegalovirus infection. [PDF]

open access: yesJ Gen Virol
Martín-Martín C   +4 more
europepmc   +1 more source

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

Targeting the US21 viroporin of human cytomegalovirus by calcium channel blockers as a new antiviral strategy. [PDF]

open access: yesCurr Res Microb Sci
Sibille G   +9 more
europepmc   +1 more source

A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still Disease–Like Autoinflammatory Syndrome

open access: yesArthritis &Rheumatology, EarlyView.
Objective Still disease represents a prototypical polygenic systemic autoinflammatory disease, characterized by recurrent systemic inflammation and dysregulation of innate immunity. Despite extensive clinical characterization, familial clustering Still disease remains unreported.
Longfang Chen   +23 more
wiley   +1 more source

Does human cytomegalovirus provide a novel therapeutic target for patients with glioblastoma? [PDF]

open access: yesPhilos Trans R Soc Lond B Biol Sci
Söderberg-Naucler C   +3 more
europepmc   +1 more source

T cells, the Next Big Target in Axial Spondyloarthritis?

open access: yesArthritis &Rheumatology, EarlyView.
Axial spondyloarthritis (axSpA) is a chronic inflammatory disease characterized by complex immune dysregulation, with T cells playing a central role in its pathogenesis. In this review, we synthesize current knowledge on diverse T cell subsets in axSpA, their pathogenic mechanisms, and emerging therapeutic strategies targeting these cells. We highlight
Mansi K. Aparnathi, Nigil Haroon
wiley   +1 more source

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