Article

Using CRISPRa-Mediated Activation of Endogenous Target Genes in Peripheral Blood Mononuclear Cell to Characterize Splicing Site Variants in Patients with Genetic Disorders

2025-08-07

Abstract excerpt

<title>Abstract</title> RNA-level detection is a critical approach for determining whether genetic variants affect splicing and for identifying potential pathogenic variants. However, tissues where disease-causing genes are expressed are often difficult to obtain in routine testing, while readily accessible tissues like blood do not express all disease-causing genes. CRISPR activation (CRISPRa) is a powerful...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 1a73580d-afd4-59dc-ac96-fb027600ee48
DOI: 10.21203/rs.3.rs-7117576/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Using CRISPRa-Mediated Activation of Endogenous Target Genes in Peripheral Blood Mononuclear Cell to Characterize Splicing Site Variants in Patients with Genetic DisordersDOI 10.21203/rs.3.rs-7117576/v1Read

CRISPRa-mediated activation of genes associated with inherited retinal dystrophies in acutely isolated human cells for diagnostic purposesSemantic proximity Read

CRISPR activation to characterize splice-altering variants in easily accessible cellsSemantic proximity Read

CRISPR Therapeutics for Duchenne Muscular DystrophySemantic proximity Read

“A CRISPR-dCas13 RNA-editing tool to study alternative splicing”Semantic proximity Read

Building Gene Editing Platforms for Personalized Medicine: The Next Step in Interventional GeneticsSemantic proximity Read

Programmable multi-kilobase RNA editing using CRISPR-mediated trans-splicingSemantic proximity Read

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.Semantic proximity Read

Atlas of CRISPR Correction of Pathogenic Human Genetic VariantsSemantic proximity Read

CRISPR-induced deletion with SaCas9 restores dystrophin expression in dystrophic models in vitro and in vivoSemantic proximity Read

Neuromuscular disease: CRISPR/Cas9 gene-editing platform corrects mutations associated with Duchenne muscular dystrophy.Semantic proximity Read

Augmenting and directing long-range CRISPR-mediated activation in human cells.Semantic proximity Read

RNA-guided cell targeting with CRISPR/RfxCas13d collateral activity in human cellsSemantic proximity Read