Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function

Treacher Collins syndrome (TCS) is a congenital disorder of craniofacial development arising from mutations in TCOF1, which encodes the nucleolar phosphoprotein Treacle. Haploinsufficiency of Tcof1 perturbs mature ribosome biogenesis, resulting in stabilization of p53 and the cyclin G1–mediated cell...

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Hlavní autoři: Jones, Natalie C, Lynn, Megan L, Gaudenz, Karin, Sakai, Daisuke, Aoto, Kazushi, Rey, Jean-Phillipe, Glynn, Earl F, Ellington, Lacey, Du, Chunying, Dixon, Jill, Dixon, Michael J, Trainor, Paul A
Médium: Artigo
Jazyk:Inglês
Vydáno: 2008
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3093709/
https://ncbi.nlm.nih.gov/pubmed/18246078
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nm1725
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