Evidence map›Paper›PMID 34257417›Full record

ArticleGene therapy2022

Restoration of RPGR expression in vivo using CRISPR/Cas9 gene editing.

Jessica D Gumerson, Amal Alsufyani, Wenhan Yu, Jingqi Lei, Xun Sun, Lijin Dong, Zhijian Wu, Tiansen Li

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Gene therapy, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed, 1 pooled it
1.9field-weighted citation impact, top 14% of its field
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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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

30 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.

  1. Pooled it
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  4. Insights IntoHuman mutation · 2026
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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

8 authors at 2 institutions in 2 countries.

Jessica D GumersonNeurobiology Neurodegeneration & Repair Laboratory (N-NRL), National Eye Institute, Bethesda, MD, USA. jessica.gumerson@nih.gov.ORCID http://orcid.org/0000-0002-4918-6008
Amal AlsufyaniNeurobiology Neurodegeneration & Repair Laboratory (N-NRL), National Eye Institute, Bethesda, MD, USA.
Wenhan YuOcular Gene Therapy Core, National Eye Institute, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-0125-4358
Jingqi LeiGenetic Engineering Core, National Eye Institute, Bethesda, MD, USA.
Xun SunNeurobiology Neurodegeneration & Repair Laboratory (N-NRL), National Eye Institute, Bethesda, MD, USA.
Lijin DongGenetic Engineering Core, National Eye Institute, Bethesda, MD, USA.
Zhijian WuOcular Gene Therapy Core, National Eye Institute, Bethesda, MD, USA.
Tiansen LiNeurobiology Neurodegeneration & Repair Laboratory (N-NRL), National Eye Institute, Bethesda, MD, USA. tiansen.li@nih.gov.ORCID http://orcid.org/0000-0002-9537-2573
National Eye Institute · USMontgomery College · US

Funding

Disease mechanism and therapies for retinal degenerationZIAEY000490 · NEI · NATIONAL EYE INSTITUTE · PI LI, TIANSEN · 2010 to 2025
$30.4M
NEI Genetic Engineering CoreZICEY000458 · NEI · NATIONAL EYE INSTITUTE · PI DONG, LIJIN · 2009 to 2025
$22.6M
Intramural NIH HHS ZIA EY000490
6 · The paper itself

Abstract

Mutations in the gene for Retinitis Pigmentosa GTPase Regulator (RPGR) cause the X-linked form of inherited retinal degeneration, and the majority are frameshift mutations in a highly repetitive, purine-rich region of RPGR known as the OFR15 exon. Truncation of the reading frame in this terminal exon ablates the functionally important C-terminal domain. We hypothesized that targeted excision in ORF15 by CRISPR/Cas9 and the ensuing repair by non-homologous end joining could restore RPGR reading frame in a portion of mutant photoreceptors thereby correcting gene function in vivo. We tested this hypothesis in the rd9 mouse, a naturally occurring mutant line that carries a frameshift mutation in RPGR

Indexed as

Retinal DegenerationRetinitis PigmentosaAnimalsCRISPR-Cas SystemsEye ProteinsGene EditingMiceMutationEye Proteins

Identifiers

PMID34257417
PMCPMC8856954
OpenAlexW3181117257

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.