A TLR8 Variant Identified From Whole Exome Sequencing as a Sepsis‐Prone Mutation
Whole‐exome sequencing of sepsis patients identified a recurrent high‐impact TLR8 rs3764880 variant enriched in bacterial sepsis. Single‐cell transcriptomics localized elevated TLR8 expression to non‐classical monocytes, while bulk RNA‐seq and functional assays demonstrated enhanced IFN‐β responses following TLR8 stimulation.
Fahd Alhamdan +3 more
wiley +1 more source
Target choice and exon skipping regulate CRISPR-directed gene editing of NRF2 in head/neck and esophageal cancer cells. [PDF]
Rivera-Torres N +6 more
europepmc +1 more source
Molecular mechanisms of sex determination in Lepidoptera: current status and perspectives
The genetic basis of sex determination in Lepidoptera was discovered in 2014 in the silkworm Bombyx mori. In this model species, the W chromosome‐derived small piRNA called Fem piRNA downregulates the expression of a Z‐linked gene, Masculinizer (Masc), which leads to the default female‐specific splicing of the doublesex gene (dsxF) and thus to female ...
František Marec +2 more
wiley +1 more source
PPMO-based exon skipping therapy improves respiratory function in the <i>mdx</i> mouse model of Duchenne muscular dystrophy. [PDF]
Biswas DD +13 more
europepmc +1 more source
Branchpoints as potential targets of exon-skipping therapies for genetic disorders. [PDF]
Ohara H +12 more
europepmc +1 more source
Antisense oligonucleotide-mediated exon skipping strategies as the treatment for rare diseases
Dunhui Li
openalex +1 more source
ABSTRACT Phylogenomics is a transformative approach in systematics, conservation biology, and biomedical research, enabling the inference of evolutionary relationships by leveraging hundreds to thousands of genes from genomic or transcriptomic data. However, acquiring high‐quality genomes and transcriptomes necessitates samples with intact DNA and RNA,
Yunlong Li +5 more
wiley +1 more source
CRISPR-directed exon skipping; friend or foe (opportunity or warning sign)? [PDF]
Banas KH, Kmiec EB.
europepmc +1 more source
Widespread Prevalence of CD19 Exon 5-6 Skipping In Indian Pediatric B-cell Acute Lymphoblastic Leukemia Patients [PDF]
Devesh Srivastava +3 more
openalex +1 more source
KRAS mutations remain the most prevalent oncogenic driver mutation seen in metastatic nonsquamous nonsmall cell lung cancer and a key target for further drug development. This study has highlighted the significant improvement seen in KRAS testing rates over time, with characteristics of Australian KRAS mutant patients corresponding with published ...
Navin Niranjan +7 more
wiley +1 more source

