Evidence map›Paper›PMID 41708596›Full record

ArticleCell death & disease2026

Unveiling ZNF124 as a novel determinant in neurodegeneration: orchestration of photoreceptor homeostasis through MSX2 transcriptional regulation.

Yeming Yang, Xiaoyan Jiang, Shujin Li, Kuanxiang Sun, Rong Zou, Can Chen, Yi Shi, Wenjing Liu, Periasamy Sundaresan, Lulin Huang and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

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

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

13 authors.

Yeming Yang *Genetic Diseases Key Laboratory of Sichuan Province, Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Xiaoyan Jiang *Genetic Diseases Key Laboratory of Sichuan Province, Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Shujin Li *Genetic Diseases Key Laboratory of Sichuan Province, Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.ORCID http://orcid.org/0000-0002-7691-3776
Kuanxiang Sun *Genetic Diseases Key Laboratory of Sichuan Province, Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Rong Zou *Genetic Diseases Key Laboratory of Sichuan Province, Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Can ChenGenetic Diseases Key Laboratory of Sichuan Province, Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Yi ShiGenetic Diseases Key Laboratory of Sichuan Province, Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Wenjing LiuGenetic Diseases Key Laboratory of Sichuan Province, Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Periasamy SundaresanDepartment of Genetics, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai, Tamil Nadu, India. sundar@aravind.org.
Lulin HuangGenetic Diseases Key Laboratory of Sichuan Province, Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China. huangluling@yeah.net.ORCID http://orcid.org/0000-0002-1204-5957
Lin ZhangGenetic Diseases Key Laboratory of Sichuan Province, Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China. zhanglin202@uestc.edu.cn.ORCID http://orcid.org/0000-0003-2298-500X
Zhenglin YangGenetic Diseases Key Laboratory of Sichuan Province, Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China. yangzhenglin@cashq.ac.cn.ORCID http://orcid.org/0000-0002-8656-7862
Xianjun ZhuGenetic Diseases Key Laboratory of Sichuan Province, Center for Medical Genetics, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China. xjzhu@uestc.edu.cn.ORCID http://orcid.org/0000-0002-2531-7552

Funding

National Natural Science Foundation of China (National Science Foundation of China) 82121003National Natural Science Foundation of China (National Science Foundation of China) 82371083
6 · The paper itself

Abstract

Retinitis pigmentosa (RP), affecting more than 20 million people worldwide, refers to a group of inherited retinal dystrophies characterized by progressive photoreceptor degeneration and vision loss. However, the underlying genetic causes of substantial RP cases remain unidentified. In this report, we identified a novel homozygous splicing variant, c.219-1delG, which introduced skipping of exon 4 of the ZNF124 gene in a large RP pedigree by whole-exome sequencing analysis. To elucidate the pathogenesis of the mutation, we generated a retina-specific knockout mouse model of ZNF124 murine homologous gene Gm20541, which manifested RP-like phenotypes characterized by reduced electroretinogram response and progressive retinal degeneration. Integrated analysis using CUT&Tag, ChIP-exo, and RNA-seq data further revealed that ZNF124 regulated MSX2 expression through binding its promoter region. Moreover, deletion of Msx2in the retina led to thinning of retina owing to progressive degeneration of rod cells. Integrated analysis of RNA-seq data from both Gm20541 and Msx2 mutant retinas indicated that ZNF124 is essential for maintaining normal retinal function by regulating Msx2 transcription, which in turn controls the expression of murine homologues of retinal dystrophy genes Rs1, Pde6g, and Pdc. Taken together, our study identified a novel mechanism of transcriptional regulation for retinal homeostasis via ZNF124-MSX2 axis and ZNF124 as a novel candidate gene for RP.

Indexed as

DNA-Binding ProteinsHomeodomain ProteinsRetinitis PigmentosaAnimalsFemaleGene Expression RegulationHomeostasisHumansMaleMiceMice, KnockoutPedigreePromoter Regions, GeneticTranscription, GeneticDNA-Binding ProteinsHomeodomain ProteinsMSX2 protein

Identifiers

PMID41708596
PMCPMC12949019

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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.