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

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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...

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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: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9915647/
https://www.ncbi.nlm.nih.gov/pubmed/36778408
http://dx.doi.org/10.1101/2023.02.01.526652

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