Evidence map›Paper›PMID 40993206›Full record

ArticleCommunications biology2025

Periaxin gene variants are linked to age-related cataracts in Cx46 deficient lenses.

Chun-Hong Xia, Eddie Wang, Lin Li, Dong Wang, Bo Chang, Mei Li, Xiaohua Gong

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Communications biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. 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

7 authors.

Chun-Hong XiaVision Science and School of Optometry, University of California, Berkeley, Berkeley, CA, USA.
Eddie WangVision Science and School of Optometry, University of California, Berkeley, Berkeley, CA, USA.
Lin LiVision Science and School of Optometry, University of California, Berkeley, Berkeley, CA, USA.
Dong WangVision Science and School of Optometry, University of California, Berkeley, Berkeley, CA, USA.ORCID http://orcid.org/0000-0003-3489-915X
Bo ChangThe Jackson Laboratory, Bar Harbor, ME, USA.ORCID http://orcid.org/0000-0001-8259-7290
Mei LiVision Science and School of Optometry, University of California, Berkeley, Berkeley, CA, USA.
Xiaohua GongVision Science and School of Optometry, University of California, Berkeley, Berkeley, CA, USA. xgong@berkeley.edu.ORCID http://orcid.org/0000-0003-2074-1802

Funding

UC Berkeley Vision Science COREP30EY003176 · NEI · UNIVERSITY OF CALIFORNIA BERKELEY · PI Xiaohua Gong · 1985 to 2026
$16.4M
Cataracts, Connexin Mutants and Genetic ModifiersR01EY013849 · NEI · UNIVERSITY OF CALIFORNIA BERKELEY · PI Xiaohua Gong · 2002 to 2026
$8.2M
NEI NIH HHS P30 EY003176NEI NIH HHS R01 EY013849U.S. Department of Health & Human Services | NIH | National Eye Institute (NEI) R01EY013849
6 · The paper itself

Abstract

Genetic predisposition affects cataract severity and progression, but no specific genetic modifier has been identified to date. This study reveals Periaxin (Prx) gene variants that cause four amino acid substitutions in the cytoskeletal scaffold protein Periaxin (PRX) between C57BL/6J (B6) and 129S4 (129) mouse strains, modulating the severity of age-related cataracts in connexin 46 knockout (Cx46KO) mice. Expression of 129-PRX is significantly higher than B6-PRX in the lens. Additionally, 129-PRX is broadly distributed across lens fibers, accumulates at fiber cell tricellular vertices, and co-localizes with actin filaments at surface protrusions in inner fibers and cultured cells. Aberrant membrane/F-actin aggregates and irregular fibers appear only in the 129-Cx46KO lens core with severe nuclear cataracts. These findings suggest that Cx46 deficiency and the gain-of-function 129-Prx variant synergistically disrupt fiber cell homeostasis and promote membrane/F-actin aggregation, leading to severe age-related cataracts.

Indexed as

AgingCataractConnexinsLens, CrystallineMembrane ProteinsPhosphoproteinsAnimalsGenetic Predisposition to DiseaseMiceMice, Inbred C57BLMice, KnockoutConnexinsMembrane ProteinsPhosphoproteins

Identifiers

PMID40993206
PMCPMC12460658

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Registered trials

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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.