Evidence map›Paper›PMID 39930181›Full record

ArticleAdvances in experimental medicine and biology2025

Megabase Deletion of the Human EYS Locus Using CRISPR/Cas9.

Bruna Lopes da Costa, Anders Steen Knudsen, C Henrique Alves, Stephen H Tsang, Peter M J Quinn

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Article in Advances in experimental medicine and biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Bruna Lopes da Costa *Department of Biomedical Engineering, Columbia University, New York, NY, USA.
Anders Steen Knudsen *Department of Biomedical Engineering, Columbia University, New York, NY, USA.
C Henrique AlvesUniv Coimbra, Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, Coimbra, Portugal.
Stephen H TsangDepartment of Biomedical Engineering, Columbia University, New York, NY, USA.
Peter M J QuinnDepartment of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA. peter.quinn1@pennmedicine.upenn.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in the Eyes Shut Homolog (EYS) gene are associated with autosomal recessive retinitis pigmentosa (arRP). To date, four retinal isoforms of EYS have been identified. However, the precise retinal function of EYS is not fully understood, but it has apparent roles in retinal morphogenesis, architecture, and ciliary transport. Clustered-regularly interspaced palindromic repeats (CRISPR)/CRISPR-associated (Cas) nuclease-mediated approaches are powerful tools for genome engineering in mammalian cells. The use of paired CRISPR/Cas9-induced double-strand breaks (DSBs) using dual single guide RNAs (sgRNA) can lead to precise genomic deletions. In this study, we developed a dual sgRNA strategy to facilitate CRISPR/Cas9-mediated deletion of 1,988,210 bp of the EYS locus, removing the four currently identified human retinal EYS isoforms. This approach can be used to produce EYSdel induced pluripotent stem cell (iPSC) lines to explore the function of EYS in human iPSC-derived retinal organoids.

Indexed as

CRISPR-Cas SystemsEye ProteinsGene DeletionGene EditingGenetic LociSequence DeletionHumansInduced Pluripotent Stem CellsRetinaRNA, Guide, CRISPR-Cas SystemsEye ProteinsRNA, Guide, CRISPR-Cas SystemsCRISPR/Cas9Eyes Shut Homolog (EYS)Megabase-scale deletionRetinitis Pigmentosa type 25 (RP25)

Identifiers

PMID39930181

What OpenQuestion holds

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Registered trials

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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.