Pathogenic variants in CRX have distinct cis-regulatory effects on enhancers and silencers in photoreceptors

Dozens of variants in the photoreceptor-specific transcription factor (TF) CRX are linked with different human blinding diseases that vary in their severity and age of onset. How different variants in a single TF cause a range of pathological phenotypes is not understood. We deployed massively paral...

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Detalles Bibliográficos
Autores principales: Shepherdson, James L., Friedman, Ryan Z., Zheng, Yiqiao, Sun, Chi, Oh, Inez Y., Granas, David M., Cohen, Barak A., Chen, Shiming, White, Michael A.
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/PMC10245955/
https://www.ncbi.nlm.nih.gov/pubmed/37292699
http://dx.doi.org/10.1101/2023.05.27.542576

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