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Article

Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability.

PloS one - 1 Jan 2015

Medina-Trillo Cristina, Sánchez-Sánchez Francisco, Aroca-Aguilar José-Daniel, Ferre-Fernández Jesús-José, Morales Laura, Méndez-Hernández Carmen-Dora, Blanco-Kelly Fiona, Ayuso Carmen, García-Feijoo Julián, Escribano Julio

Abstract excerpt

Dominant glaucoma, a heterogeneous, infrequent and irreversible optic neuropathy, is often associated with elevated intraocular pressure and early-onset. The role of FOXC1 in this type of glaucoma was investigated in twelve Spanish probands via nucleotide variation screening of its proximal promoter and unique exon. Functional evaluations of the identified variants included analyses of the transcriptional...

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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: 25786029
DOI: 10.1371/journal.pone.0119272
PMCID: PMC4364892

Genes

FOXC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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