Evidence map›Paper›PMID 41038369›Full record

ArticleExperimental eye research2025

ABCA4-mutant human retinal organoids sequencing reveals organoids application in inherited retinal diseases.

Yourong Bao, Sujung Soh, Jean Li, Zhen Zuo, Salma Ferdous, Xinye Qian, Jin Li, Jiaxiong Lu, Xuesen Cheng, Anna Matynia and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Experimental eye research, 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

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.

  1. 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

12 authors.

Yourong BaoHGSC, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Department of Biosciences, Rice University, Houston, TX, 77005, USA. Electronic address: maggiemaizibao@gmail.com.
Sujung SohGavin Herbert Eye Institute - Center for Translational Vision Research, Department of Ophthalmology, University of California Irvine School of Medicine, Irvine, CA, 92697, USA. Electronic address: sujungs@hs.uci.ed.
Jean LiHGSC, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Electronic address: jeancl2@uci.edu.
Zhen ZuoHGSC, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Graduate Program in Quantitative and Computational Biosciences, Baylor College of Medicine, Houston, TX, 77030, USA. Electronic address: Zhen.Zuo@bcm.edu.
Salma FerdousHGSC, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Electronic address: salmaferdous14@gmail.com.
Xinye QianHGSC, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX, 77030, USA. Electronic address: xinyeqian16@gmail.com.
Jin LiHGSC, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Gavin Herbert Eye Institute - Center for Translational Vision Research, Department of Ophthalmology, University of California Irvine School of Medicine, Irvine, CA, 92697, USA. Electronic address: jin.li@uci.edu.
Jiaxiong LuHGSC, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Gavin Herbert Eye Institute - Center for Translational Vision Research, Department of Ophthalmology, University of California Irvine School of Medicine, Irvine, CA, 92697, USA. Electronic address: jiaxiol@uci.edu.
Xuesen ChengHGSC, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Electronic address: xuesen.Cheng@bcm.edu.
Anna MatyniaOphthalmology, University of California Los Angeles David Geffen School of Medicine, Los Angeles, CA, 90095, USA. Electronic address: matynia@jsei.ucla.edu.
Yumei LiHGSC, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Gavin Herbert Eye Institute - Center for Translational Vision Research, Department of Ophthalmology, University of California Irvine School of Medicine, Irvine, CA, 92697, USA. Electronic address: yumeil3@hs.uci.edu.
Rui ChenHGSC, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Gavin Herbert Eye Institute - Center for Translational Vision Research, Department of Ophthalmology, University of California Irvine School of Medicine, Irvine, CA, 92697, USA; Graduate Program in Quantitative and Computational Biosciences, Baylor College of Medicine, Houston, TX, 77030, USA; Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX, 77030, USA. Electronic address: ruic20@hs.uci.edu.

Funding

VISION RESEARCH CENTERP30EY002520 · NEI · BAYLOR COLLEGE OF MEDICINE · PI Samuel M Wu · 1985 to 2026
$14.8M
GENETICS OF EARLY ONSET RETINAL DISEASESR01EY018571 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2008 to 2026
$7.2M
Molecular Basis of Human Visual System DisordersR01EY022356 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2012 to 2026
$6.1M
NEI NIH HHS P30 EY002520NEI NIH HHS R01 EY018571NEI NIH HHS R01 EY022356
6 · The paper itself

Abstract

In the studies of Inherited Retinal Diseases (IRDs), the knockout of traditional animal models like mice often fails to accurately replicate human phenotypes due to genetic and anatomical differences. Human retinal organoids (ROs) derived from stem cells have emerged as promising developmental models in retinal studies to delineate cell growth, but their ability to represent the characteristics of late-onset IRDs remains unclear. This study aims to validate ROs as a disease model for Stargardt's Disease (STGD) caused by ABCA4 mutations. Using single-cell RNA sequencing, ROs from 2 STGD patients were compared with healthy control-derived ROs at two developmental stages on both the cellular and transcriptomic levels. The results from gene-level comparisons show promising evidence that ROs successfully capture the underlying molecular variations between patient and control samples even at the early developmental stage, providing the potential of applying ROs to facilitate the study of IRDs and late-onset neurodegenerative diseases.

Indexed as

ATP-Binding Cassette TransportersMutationOrganoidsRetinaRetinal DiseasesStargardt DiseaseFemaleHumansMaleABCA4 protein, humanATP-Binding Cassette TransportersABCA4Inherited retinal diseases (IRDs)Retinal organoids (ROs)Single-cell RNA sequencing (scRNA-seq)Stargardt's Disease (STGD)

Identifiers

PMID41038369
PMCPMC13133920

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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.