Evidence map›Paper›PMID 42192484›Full record

ArticleHuman genomics2026

Lens tissue transcriptome analysis in patients with total congenital cataract.

Xiaolei Lin, Huiyu Chen, Xin Liu, Fan Fan, Yulan Wang, Yi Luo

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Article in Human genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Xiaolei Lin *Department of Ophthalmology, Shanghai Eye Diseases Prevention and Treatment Center, Shanghai Eye Hospital, School of Medicine, Tongji University, 1440 Hongqiao Road, Shanghai, 200050, China.
Huiyu Chen *Department of Ophthalmology, Shanghai Eye Diseases Prevention and Treatment Center, Shanghai Eye Hospital, School of Medicine, Tongji University, 1440 Hongqiao Road, Shanghai, 200050, China.
Xin LiuDepartment of Ophthalmology, Eye & ENT Hospital, Shanghai Medical College, Fudan University, 83 Fenyang Road, Shanghai, 200030, China.
Fan FanDepartment of Ophthalmology, Eye & ENT Hospital, Shanghai Medical College, Fudan University, 83 Fenyang Road, Shanghai, 200030, China.
Yulan WangDepartment of Ophthalmology, Shanghai Eye Diseases Prevention and Treatment Center, Shanghai Eye Hospital, School of Medicine, Tongji University, 1440 Hongqiao Road, Shanghai, 200050, China. shybfzs@163.com.
Yi LuoDepartment of Ophthalmology, Eye & ENT Hospital, Shanghai Medical College, Fudan University, 83 Fenyang Road, Shanghai, 200030, China. yeeluo2025@126.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundTotal congenital cataract (TCC), a leading cause of childhood visual impairment. We analyzed transcriptome profiles of lens epithelial cells (LECs) and lens fiber cells (LFCs) in pediatric patients with TCC to identify differentially expressed genes (DEGs) and potential pathogenic pathways.

resultsIn LECs, 1,645 DEGs were identified, enriched in structural constituents of the eye lens extracellular matrix component and extracellular matrix organization. LFCs exhibited 2,708 DEGs, enriched in SRP-dependent cotranslational protein targeting to membrane, protein targeting to ER, and cotranslational protein targeting to membrane. Cross-referencing with iSyTE2.0 highlighted HOPX, SUSD2, SH3BGR, BIRC7, and GSS as top candidates. All five candidate genes were significantly downregulated in both LECs and LFCs that were lens-enriched genes during embryonic development.

conclusionsThis study reveals distinct transcriptomic profiles in LECs and LFCs of TCC patients, implicating novel genes in lens development, oxidative stress, and apoptosis.

Indexed as

CataractLens, CrystallineTranscriptomeChildChild, PreschoolEpithelial CellsFemaleGene Expression ProfilingHumansInfantMaleOxidative StressCandidate genesEpithelial cellsFiber cellsRNA sequencingTotal congenital cataract

Identifiers

PMID42192484
PMCPMC13393818

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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.