Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.

Jiawen Wu, Zhongmou Sun, Dao Wei Zhang, Hong-Li Liu, Ting Li, Shenghai Zhang, Jihong Wu

Abstract read

In one paragraph

Article in PeerJ, 2023. 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

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

1 citing paper in PubMed.

Pathogenicity and Functional Analysis of Multi-Variant Allele of RPE65 Causing Retinitis Pigmentosa.Translational vision science & technology · 2026
Article

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

7 authors.

Jiawen Wu *Eye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China.

Zhongmou Sun *University of Rochester School of Medicine and Dentistry, New York, United States of America.

Dao Wei ZhangEye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China.

Hong-Li LiuEye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China.

Ting LiEye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China.

Shenghai ZhangEye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China.

Jihong WuEye Institute, Eye and ENT Hospital, College of Medicine, Fudan University, Shanghai, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: This study aimed to develop a prediction model to classify Methods: Pathogenic or likely pathogenic missense variants of Results: The study found that both pathogenic and population missense variants were associated with structural features of RPE65. Pathogenic variants were linked to sheet, Conclusion: The study developed a novel prediction model based on the protein structure of RPE65 and investigated phenotype-protein structure correlations of RPE65 missense variants in a Chinese cohort. The findings provide insights into the precise diagnosis of

Indexed as

cis-trans-IsomerasesLeber Congenital AmaurosisRetinal DiseasesHumansMutation, MissensePedigreePhenotypeProtein ConformationRetinaRetinoid Isomerohydrolasecis-trans-IsomerasesRetinoid IsomerohydrolaseInherited retinal disease (IRDs)Leber congenital amaurosis (LCA)Machine learningPhenotypePrediction modelRetinitis pigmentosa(RP)RPE65

Identifiers

PMID37547722

DOI10.7717/peerj.15702

PMCPMC10404030

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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.