ArticleBlood2019
Editing aberrant splice sites efficiently restores β-globin expression in β-thalassemia.
Article in Blood, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
54 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- RNA Drugs and RNA Targets for Small Molecules: Principles, Progress, and Challenges.Pharmacological reviews · 2020Pooled it
- CRISPR-HAWK: haplotype- and variant-aware guide design toolkit for CRISPR-Cas.Bioinformatics (Oxford, England) · 2026Article
- Precision base-editing of the cryptic 3' acceptor site to correct the RNA splicing defect of βMolecular biomedicine · 2026Article
- The splice of life: an isoform-centric view of disease, technology, and therapeutics.The Journal of clinical investigation · 2026Review
- CRISPR-HAWK: Haplotype- and Variant-aware guide design toolkit for CRISPR-Cas.bioRxiv : the preprint server for biology · 2025Article
- Highly parallel profiling of the activities and specificities of Cas12a variants in human cells.Nature communications · 2025Article
- Genetic modulation of RNA splicing rescues BRCA2 function in mutant cells.Life science alliance · 2025Article
- Associations betweenJournal of Taibah University Medical Sciences · 2024Article
- Gene Editing of the Endogenous Cryptic 3' Splice Site Corrects the RNA Splicing Defect in the βHuman gene therapy · 2024Article
- CRISPR technology in human diseases.MedComm · 2024Review
- CRISPR-Cpf1 system and its applications in animal genome editing.Molecular genetics and genomics : MGG · 2024Review
- Precise correction of a spectrum of β-thalassemia mutations in coding and non-coding regions by base editors.Molecular therapy. Nucleic acids · 2024Article
- Context base editing for splice correction of IVSI-110 β-thalassemia.Molecular therapy. Nucleic acids · 2024Article
- [Gene therapy strategies and prospects for neurofibromatosis type 1].Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery · 2024Article
- Therapeutic genome editing of an aberrant splice site in β-thalassemia by CRISPR/Cas9 with multiple sgRNAs.Genes & diseases · 2024Article
- Programmable modulation of ribosomal frameshifting by mRNA targeting CRISPR-Cas12a system.iScience · 2023Article
- CRISPR/Cas-based gene editing in therapeutic strategies for beta-thalassemia.Human genetics · 2023Review
- Applications and Research Advances in the Delivery of CRISPR/Cas9 Systems for the Treatment of Inherited Diseases.International journal of molecular sciences · 2023Review
- Precision Editing as a Therapeutic Approach for β-Hemoglobinopathies.International journal of molecular sciences · 2023Review
- Adenine base editor-mediated correction of the common and severe IVS1-110 (G>A) β-thalassemia mutation.Blood · 2023Article
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Authors and funding
12 authors at 4 institutions in 3 countries.
Funding
Abstract
The thalassemias are compelling targets for therapeutic genome editing in part because monoallelic correction of a subset of hematopoietic stem cells (HSCs) would be sufficient for enduring disease amelioration. A primary challenge is the development of efficient repair strategies that are effective in HSCs. Here, we demonstrate that allelic disruption of aberrant splice sites, one of the major classes of thalassemia mutations, is a robust approach to restore gene function. We target the IVS1-110G>A mutation using Cas9 ribonucleoprotein (RNP) and the IVS2-654C>T mutation by Cas12a/Cpf1 RNP in primary CD34
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.