Article

Missense mutations in CRX homeodomain cause dominant retinopathies through two distinct mechanisms

2023-02-04

Abstract excerpt

<h4>Summary</h4> Homeodomain transcription factors (HD TFs) are instrumental to vertebrate development. Mutations in HD TFs have been linked to human diseases, but their pathogenic mechanisms remain elusive. Here we use Cone-Rod Homeobox (CRX) as a model to decipher the disease-causing mechanisms of two HD mutations, p.E80A and p.K88N , that produce severe dominant retinopathies. Through integrated analysis of...

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Literature Corpus work: 50a426f5-9e7b-503e-b973-6e364f2864b2
DOI: 10.1101/2023.02.01.526652

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