Disease modeling of core pre-mRNA splicing factor haploinsufficiency

The craniofacial disorder mandibulofacial dysostosis Guion-Almeida type is caused by haploinsufficiency of the U5 snRNP gene EFTUD2/SNU114. However, it is unclear how reduced expression of this core pre-mRNA splicing factor leads to craniofacial defects. Here we use a CRISPR-Cas9 nickase strategy to...

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Vydáno v:Hum Mol Genet
Hlavní autoři: Wood, Katherine A, Rowlands, Charlie F, Qureshi, Wasay Mohiuddin Shaikh, Thomas, Huw B, Buczek, Weronika A, Briggs, Tracy A, Hubbard, Simon J, Hentges, Kathryn E, Newman, William G, O’Keefe, Raymond T
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2019
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6935387/
https://ncbi.nlm.nih.gov/pubmed/31304552
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz169
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