Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects
The removal of introns from mRNA precursors and its regulation by alternative splicing are
key for eukaryotic gene expression and cellular function, as evidenced by the numerous …
key for eukaryotic gene expression and cellular function, as evidenced by the numerous …
Scalable functional assays for the interpretation of human genetic variation
Scalable sequence–function studies have enabled the systematic analysis and cataloging of
hundreds of thousands of coding and noncoding genetic variants in the human genome …
hundreds of thousands of coding and noncoding genetic variants in the human genome …
CRISPR/Cas9-based split homing gene drive targeting doublesex for population suppression of the global fruit pest Drosophila suzukii
AK Yadav, C Butler, A Yamamoto… - Proceedings of the …, 2023 - National Acad Sciences
Genetic-based methods offer environmentally friendly species-specific approaches for
control of insect pests. One method, CRISPR homing gene drive that target genes essential …
control of insect pests. One method, CRISPR homing gene drive that target genes essential …
Splicing in the diagnosis of rare disease: advances and challenges
Mutations which affect splicing are significant contributors to rare disease, but are frequently
overlooked by diagnostic sequencing pipelines. Greater ascertainment of pathogenic …
overlooked by diagnostic sequencing pipelines. Greater ascertainment of pathogenic …
[HTML][HTML] Efficient exon skip** by base-editor-mediated abrogation of exonic splicing enhancers
H Qiu, G Li, J Yuan, D Yang, Y Ma, F Wang, Y Dai… - Cell Reports, 2023 - cell.com
Duchenne muscular dystrophy (DMD) is a severe genetic disease caused by the loss of the
dystrophin protein. Exon skip** is a promising strategy to treat DMD by restoring truncated …
dystrophin protein. Exon skip** is a promising strategy to treat DMD by restoring truncated …
High-throughput mutagenesis identifies mutations and RNA-binding proteins controlling CD19 splicing and CART-19 therapy resistance
M Cortés-López, L Schulz, M Enculescu… - Nature …, 2022 - nature.com
Following CART-19 immunotherapy for B-cell acute lymphoblastic leukaemia (B-ALL), many
patients relapse due to loss of the cognate CD19 epitope. Since epitope loss can be caused …
patients relapse due to loss of the cognate CD19 epitope. Since epitope loss can be caused …
All exons are not created equal—exon vulnerability determines the effect of exonic mutations on splicing
LL Holm, TK Doktor, KK Flugt… - Nucleic Acids …, 2024 - academic.oup.com
It is now widely accepted that aberrant splicing of constitutive exons is often caused by
mutations affecting cis-acting splicing regulatory elements (SREs), but there is a …
mutations affecting cis-acting splicing regulatory elements (SREs), but there is a …
Benchmarking splice variant prediction algorithms using massively parallel splicing assays
C Smith, JO Kitzman - Genome Biology, 2023 - Springer
Background Variants that disrupt mRNA splicing account for a sizable fraction of the
pathogenic burden in many genetic disorders, but identifying splice-disruptive variants …
pathogenic burden in many genetic disorders, but identifying splice-disruptive variants …
An intronic RNA element modulates Factor VIII exon-16 splicing
V Tse, G Chacaltana, M Gutierrez… - Nucleic Acids …, 2024 - academic.oup.com
Pathogenic variants in the human Factor VIII (F8) gene cause Hemophilia A (HA). Here, we
investigated the impact of 97 HA-causing single-nucleotide variants on the splicing of 11 …
investigated the impact of 97 HA-causing single-nucleotide variants on the splicing of 11 …
Mechanism and modeling of human disease-associated near-exon intronic variants that perturb RNA splicing
Abstract It is estimated that 10%–30% of disease-associated genetic variants affect splicing.
Splicing variants may generate deleteriously altered gene product and are potential …
Splicing variants may generate deleteriously altered gene product and are potential …