Search
Search Results
-
VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing
DNA variants altering the pre-mRNA splicing process represent an underestimated cause of human genetic diseases. Their association with disease...
-
Neuronal activity regulates alternative exon usage
Neuronal activity-regulated gene transcription underlies plasticity-dependent changes in the molecular composition and structure of neurons. A large...
-
Exon-Skip** for a Pathogenic COL6A1 Variant in Ullrich Congenital Muscular Dystrophy
Single nucleotide variants that alter splice sites or splicing regulatory elements can lead to the skip** of exons, retention of introns, or...
-
Targeting the ERG oncogene with splice-switching oligonucleotides as a novel therapeutic strategy in prostate cancer
BackgroundThe ERG oncogene, a member of the ETS family of transcription factor encoding genes, is a genetic driver of prostate cancer. It is...
-
NUDT21 limits CD19 levels through alternative mRNA polyadenylation in B cell acute lymphoblastic leukemia
B cell progenitor acute lymphoblastic leukemia (B-ALL) treatment has been revolutionized by T cell-based immunotherapies—including chimeric antigen...
-
LncRNA MIAT Promotes Spinal Cord Injury Recovery in Rats by Regulating RBFOX2-Mediated Alternative Splicing of MCL-1
LncRNA myocardial infarction–associated transcript (MIAT) alleviates acute spinal cord injury (ASCI)-induced neuronal cell apoptosis, but the...
-
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2
PurposeCurrent interpretation guidelines for germline variants in high-risk cancer susceptibility genes consider predicted loss-of-function (LoF)...
-
Noncoding RNAs regulate alternative splicing in Cancer
AS (alternative splicing) is a fundamental process by which a gene can generate multiple distinct mRNA transcripts to increase protein diversity....
-
Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing
Despite the growing accessibility of clinical sequencing, functional interpretation of variants remains a major hurdle to molecular diagnostics of...
-
Mechanisms of Action of the US Food and Drug Administration-Approved Antisense Oligonucleotide Drugs
Antisense oligonucleotides (ASOs) are single stranded nucleic acids that target RNA. The US Food and Drug Administration has approved ASOs for...
-
Genome-wide transcriptome analysis of the early developmental stages of Echinococcus granulosus protoscoleces reveals extensive alternative splicing events in the spliceosome pathway
BackgroundThe complex life cycle of Echinococcus granulosus involves numerous environmental conditions within different intermediate and definitive...
-
Genome-wide profiling of alternative splicing in glioblastoma and their clinical value
BackgroundAlternative splicing (AS), one of the main post-transcriptional biological regulation mechanisms, plays a key role in the progression of...
-
Directly Reprogrammed Neurons Express MAPT and APP Splice Variants Pertinent to Ageing and Neurodegeneration
Neurons produced by reprogramming of other cell types are used to study cellular mechanisms of age-related neurodegenerative diseases. To model...
-
Selection on synonymous sites: the unwanted transcript hypothesis
Although translational selection to favour codons that match the most abundant tRNAs is not readily observed in humans, there is nonetheless...
-
Prospective assessment of AR splice variant and PSMA detection on circulating tumor cells of mCRPC patients: preliminary analysis of patients enrolled in PRIMERA trial (NCT04188275)
In our institution, a prospective observational trial testing micro-RNA (miRNA) and ARV7 mutational status in metastatic, castration resistant...
-
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
BackgroundWhole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many...
-
Systemic characterization of alternative splicing related to prognosis and immune infiltration in malignant mesothelioma
BackgroundMalignant mesothelioma (MM) is a relatively rare and highly lethal tumor with few treatment options. Thus, it is important to identify...
-
MeCP2 gates spatial learning-induced alternative splicing events in the mouse hippocampus
Long-term memory formation is supported by functional and structural changes of neuronal networks, which rely on de novo gene transcription and...
-
Direct Analysis of HIV mRNA m6A Methylation by Nanopore Sequencing
The post-transcriptional processing and chemical modification of HIV RNA are understudied aspects of HIV virology, primarily due to the limited...
-
Deep learning structural insights into heterotrimeric alternatively spliced P2X7 receptors
P2X7 receptors (P2X7Rs) are membrane-bound ATP-gated ion channels that are composed of three subunits. Different subunit structures may be expressed...
