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Article

TGFβ Signaling Dysregulation May Contribute to COL4A1-Related Glaucomatous Optic Nerve Damage.

Investigative ophthalmology & visual science - 1 May 2024

Mao Mao, Kuo Yien-Ming, Yu Alfred K, Labelle-Dumais Cassandre, Ou Yvonne, Gould Douglas B

Abstract excerpt

Purpose: Mutations in the genes encoding type IV collagen alpha 1 (COL4A1) and alpha 2 (COL4A2) cause a multisystem disorder that includes ocular anterior segment dysgenesis (ASD) and glaucoma. We previously showed that transforming growth factor beta (TGFβ) signaling was elevated in developing anterior segments from Col4a1 mutant mice and that reducing TGFβ signaling ameliorated ASD, supporting a role for the...

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Share to Anterior Eye Segment
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Optic Nerve

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Share to Receptor, Transforming Growth Factor-beta Type II

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Source

Open in PubMed Open full text

Identifiers

PMID: 38717426
DOI: 10.1167/iovs.65.5.15
PMCID: PMC11090142

Genes

COL4A1
COL4A2
TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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