Results 71 to 80 of about 127,159 (238)
Investigating the Implications of CFTR Exon Skipping Using a Cftr Exon 9 Deleted Mouse Model
Introduction: Severity and disease progression in people with Cystic Fibrosis (CF) is typically dependent on their genotype. One potential therapeutic strategy for people with specific mutations is exon skipping with antisense oligonucleotides (AO). CFTR
Kelly M. Martinovich +18 more
doaj +1 more source
By integrating 516 whole‐genome resequencing datasets and 236 transcriptomes of allotetraploid common carp, this study establishes the first population‐scale atlas of transposable element (TE) variation in teleost species. TE bursts, relaxed purifying selection, and lineage‐specific loss of ancient insertions shape genome evolution and phenotypic ...
Shuimu Hu +11 more
wiley +1 more source
This study establishes that the RBM25‐PRPF40A interaction modulates MYPT1 splicing, promoting the production of the oncogenic long isoform. This isoform stabilizes YAP by suppressing its phosphorylation and subsequent proteasomal degradation, ultimately accelerating tumor growth.
Wenjing Zhang +14 more
wiley +1 more source
Exon Skipping of AIMP2 and Lymphomagenesis
Abstract ARS-interacting multifunctional protein 2 (AIMP2), the component of aminoacyl-tRNA synthase complex, acts as a potent tumor suppressor in conjunction with p53. The second exon deficient AIMP2 generated by alternative splicing mechanism (AIMP2-DX2) induces loses its important role as a signaling modulator.
Doyeun Kim +12 more
openaire +1 more source
The IgLec gene family generates both protein‐coding antiviral effectors and non‐coding transcripts. Upon viral infection, non‐coding transcripts are preferentially targeted by viral miR‐N48, thereby buffering protein‐coding isoforms from repression. Depletion of these decoy transcripts compromises antiviral defense, revealing a non‐coding RNA‐mediated ...
Ying Huang +5 more
wiley +1 more source
Antisense-mediated exon skipping is currently in clinical development for Duchenne muscular dystrophy (DMD) to amend the consequences of the underlying genetic defect and restore dystrophin expression. Due to turnover of compound, transcript, and protein,
Ingrid E C Verhaart +9 more
doaj +1 more source
Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi +10 more
wiley +1 more source
U7 snRNAs induce correction of mutated dystrophin pre-mRNA by exon skipping. [PDF]
Most cases of Duchenne muscular dystrophy are caused by dystrophin gene mutations that disrupt the mRNA reading frame. Artificial exclusion (skipping) of a single exon would often restore the reading frame, giving rise to a shorter, but still functional ...
Brun, C +7 more
core +1 more source
MET Exon 14 Skipping in Non-Small Cell Lung Cancer.
BACKGROUND: Non-small cell lung cancers (NSCLCs) harboring specific genetic alterations can be highly sensitive to targeted therapies. MATERIALS AND METHODS: We performed a targeted rearrangement assay on 54 NSCLCs across all stages that were from ...
심효섭
core +1 more source
How important are linguistic factors in word skipping during reading? [PDF]
The probability of skipping a word is influenced by its processing ease. For instance, a word that is predictable from the preceding context is skipped more often than an unpredictable word. A meta-analysis of studies examining this predictability effect
Brysbaert, Marc +5 more
core +1 more source

