Disease modeling of core pre-mRNA splicing factor haploinsufficiency

@article{Wood2019DiseaseMO,
  title={Disease modeling of core pre-mRNA splicing factor haploinsufficiency},
  author={Katherine A. Wood and Charlie F. Rowlands and Wasay Mohiuddin Shaikh Qureshi and Huw B. Thomas and Weronika A Buczek and Tracy A. Briggs and Simon J. Hubbard and Kathryn E. Hentges and William G. Newman and Raymond T. O’Keefe},
  journal={Human Molecular Genetics},
  year={2019},
  volume={28},
  pages={3704 - 3723}
}
Abstract 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 generate a human EFTUD2-knockdown cell line and show that reduced expression of EFTUD2 leads to diminished proliferative ability of these cells, increased sensitivity to endoplasmic… Expand
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