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

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 mutation...

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Detalles Bibliográficos
Autores principales: Zheng, Yiqiao, Sun, Chi, Zhang, Xiaodong, Ruzycki, Philip A, Chen, Shiming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10645426/
https://www.ncbi.nlm.nih.gov/pubmed/37963072
http://dx.doi.org/10.7554/eLife.87147