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Article

Distinct Phenotypic Consequences of Pathogenic Mutants Associated with Late-Onset Retinal Degeneration.

The American journal of pathology - 1 Nov 2023

Xu Lei, Ruddick William N, Bolch Susan N, Klingeborn Mikael, Dyka Frank M, Kulkarni Manoj M, Simpson Chiab P, Beltran William A, Bowes Rickman Catherine, Smith W Clay, Dinculescu Astra

Abstract excerpt

A pathologic feature of late-onset retinal degeneration caused by the S163R mutation in C1q-tumor necrosis factor-5 (C1QTNF5) is the presence of unusually thick deposits between the retinal pigmented epithelium (RPE) and the vascular choroid, considered a hallmark of this disease. Following its specific expression in mouse RPE, the S163R mutant exhibits a reversed polarized distribution relative to the apically...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36328299
DOI: 10.1016/j.ajpath.2022.10.004
PMCID: PMC10726427

Genes

RPE
C1QTNF5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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