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Article

Pleiotropy in FOXC1-attributable phenotypes involves altered ciliation and cilia-dependent signaling.

Scientific reports - 31 Aug 2024

Havrylov Serhiy, Chrystal Paul, van Baarle Suey, French Curtis R, MacDonald Ian M, Avasarala Jagannadha, Rogers R Curtis, Berry Fred B, Kume Tsutomu, Waskiewicz Andrew J, Lehmann Ordan J

Abstract excerpt

Alterations to cilia are responsible for a wide range of severe disease; however, understanding of the transcriptional control of ciliogenesis remains incomplete. In this study we investigated whether altered cilia-mediated signaling contributes to the pleiotropic phenotypes caused by the Forkhead transcription factor FOXC1. Here, we show that patients with FOXC1-attributable Axenfeld-Rieger Syndrome (ARS) have a...

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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: 39217245
DOI: 10.1038/s41598-024-71159-y
PMCID: PMC11365983

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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