A multi-enhancer RET regulatory code is disrupted in Hirschsprung disease

The major genetic risk factors for Hirschsprung disease (HSCR) are three common polymorphisms within cis-regulatory elements (CREs) of the receptor tyrosine kinase gene RET, which reduce its expression during enteric nervous system (ENS) development. These risk variants attenuate binding of the tran...

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Detalles Bibliográficos
Autores principales: Chatterjee, Sumantra, Karasaki, Kameko M., Fries, Lauren E., Kapoor, Ashish, Chakravarti, Aravinda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8647834/
https://www.ncbi.nlm.nih.gov/pubmed/34782358
http://dx.doi.org/10.1101/gr.275667.121

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8647834/
https://www.ncbi.nlm.nih.gov/pubmed/34782358
http://dx.doi.org/10.1101/gr.275667.121

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