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Article

Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1.

Human molecular genetics - 15 Nov 2003

Saleem Ramsey A, Banerjee-Basu Sharmila, Berry Fred B, Baxevanis Andreas D, Walter Michael A

Abstract excerpt

Five missense mutations (P79L, P79T, I91S, I91T and R127H) within the forkhead DNA-binding domain of the FOXC1 transcription factor, identified in patients with Axenfeld-Rieger (AR) malformations, were studied to identify the effects of these mutations on FOXC1 structure and function. Molecular modeling and threading analyses predict that the I91S and T mutations may generate local disruptions to the structure of...

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Source

Identifiers

PMID: 14506133
DOI: 10.1093/hmg/ddg324

Genes

FOXC1
FOXC2
FOXE3
FOXP2

Variants

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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