Results 181 to 190 of about 209,319 (317)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach   +11 more
wiley   +1 more source

A Novel C19orf47‐AKT2 Chimeric RNA Generated by Cis‐Splicing of Adjacent Genes Is Associated With Glioblastoma Prognosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Malignant gliomas pose significant therapeutic challenges. This study aimed to identify and characterize a novel chimeric RNA in glioma and assess its clinical and functional significance for precision treatment. Methods The C19orf47‐AKT2 chimeric RNAs were identified through RNA sequencing and validated by polymerase chain reaction.
Zihan Wang   +11 more
wiley   +1 more source

Hyperoxia Induced Alteration of Chromatin Structure in Human Bone Marrow Derived Primary Mesenchymal Stromal Cells

open access: yesAdvanced Biology, EarlyView.
Chromatin, which organizes DNA, changes its structure to adapt to stress like high oxygen levels (hyperoxia), which can damage cells. Researchers developed a technique to observe these changes and found variability in how different parts of chromatin remodel.
Lauren Monroe   +4 more
wiley   +1 more source

Activation of NF‐κB Signaling by Optogenetic Clustering of IKKα and β

open access: yesAdvanced Biology, EarlyView.
This study presents an optogenetic approach for graded clustering of eGFP‐fused proteins using an eGFP‐specific nanobody and engineered Cryptochrome 2 variants. The method enables potent, reversible activation of NF‐κB signaling via endogenous pathways, as confirmed by RNA sequencing. This versatile system provides a spatially and temporally controlled
Alexandra Anna Maria Fischer   +8 more
wiley   +1 more source

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