Andrea Byrnes

Specificity and exon target space of splicing modifying compounds

Felina Lenkeit, Judith Knehr, Marc Altorfer, Andrea Byrnes et autres

Abstract Modulation of splicing is an established therapeutic strategy with clinical applications and potential to target specific exons to influence gene expression. Small-molecule splicing modifiers such as Risdiplam and Branaplam induce inclusion of exons typically skipped due to weak $${5}^{{\prime} }$$ 5 …

ch, us (code pays fourni par la source)

Specificity and exon target space of splicing modifying compounds

Judith Knehr, Marc Altorfer, Andrea Byrnes, Wenjing Li et autres

This are the data needed to reproduce the analysis of the manuscript "Specificity and exon target space of splicing modifying compounds"

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

Anders D. Børglum, Eija Hämäläinen, Francesco Lescai, Patrick F. Sullivan et autres

us (code pays fourni par la source)

Specificity and exon target space of splicing modifying compounds

Felina Lenkeit, Judith Knehr, Marc Altorfer, Andrea Byrnes et autres

Specificity and exon target space of splicing modifying compounds

Judith Knehr, Marc Altorfer, Andrea Byrnes, Wenjing Li et autres

This are the data needed to reproduce the analysis of the manuscript "Specificity and exon target space of splicing modifying compounds"

Specificity and exon target space of splicing modifying compounds

Felina Lenkeit, Judith Knehr, Marc Altorfer, Andrea Byrnes et autres

Specificity and exon target space of splicing modifying compounds

Alejandro Reyes, Felina Lenkeit, Judith Knehr, Marc Altorfer et autres

ch, cn (code pays fourni par la source)

Author response for "Photoaffinity enabled transcriptome-wide identification of splice modulating small molecule-RNA binding events in native cells"

Raven Shah, Wanlin Yan, Joyce Rigal, Steve Mullin et autres

Photoaffinity enabled transcriptome-wide identification of splice modulating small molecule–RNA binding events in native cells

Wanlin Yan, Joyce Rigal, Steve Mullin, Lynn M. McGregor et autres

-acting effects. To identify RNA targets that bind directly with splice modulating compounds, we deployed a photoaffinity labeling (PAL)-based Chem-CLIP approach. Through this workflow, we identify the telomerase lncRNA (TERC) as a previously unknown target of this class of clinically relevant small …

ch, cn (code pays fourni par la source)

Photoaffinity enabled transcriptome-wide identification of splice modulating small molecule-RNA binding events in native cells

Raven Shah, Wanlin Yan, Joyce Rigal, Steve Mullin et autres

Splice modulating small molecules have been developed to promote the U1 snRNP to engage with pre-mRNAs with strong and altered sequence preference. Transcriptomic profiling of bulk RNA from compound treated cells enables detection of RNAs impacted; however, it is difficult to delineate …

cn (code pays fourni par la source)

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Ludovica Montanucci, David J. Lewis-Smith, Ryan L. Collins, Lisa‐Marie Niestroj et autres

Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and …

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Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity

Mark K. Bakker, Jos P. Kanning, Gad Abraham, Amy E. Martinsen et autres

Background: Recently, common genetic risk factors for intracranial aneurysm (IA) and aneurysmal subarachnoid hemorrhage (ASAH) were found to explain a large amount of disease heritability and therefore have potential to be used for genetic risk prediction. We constructed a genetic risk score …

nl, au, no, fr, jp, ch, us, nz, gb (code pays fourni par la source)