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Article

Cis- and Trans-Regulatory Factors Independently Shape Phenotypic Heterogeneity of Retinitis Pigmentosa.

Advanced science (Weinheim, Baden-Wurttemberg, Germany) - 1 Jun 2026

Cui Cong, Nakagawa Kotone, Tateno Takumi, Dan Ayaka, Meng Dexin, Omori Yoshihiro, Tomihara Soma, Okamoto Suzuri, Sato Shigeru, Tsujikawa Motokazu

Abstract excerpt

Retinitis pigmentosa (RP) is a group of retinal inherited diseases characterized by substantial clinical heterogeneity, even among individuals carrying the same pathogenic mutation. In this study, we identified two distinct genetic mechanisms influencing RP severity using a transgenic zebrafish model expressing the human rhodopsin S334X mutation. The first mechanism is tightly linked to RP onset and results in a...

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Identifiers

PMID: 41961469
DOI: 10.1002/advs.202520828
PMCID: PMC13317566

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