id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_wtnfwgpzqnfabpwucygbl35wyq	Patrick Frosk	A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis	2017	12	.pdf	application/pdf	11317	1989	68	CEP55 in human cells, where we observed a failure of sequencing data for the CEP55 variant, showing traces bearing the mutation segregating in the family under an autosomal-recessive paradigm. Most reported functional studies on CEP55 have been performed either in cell culture or in tumour tissue.31 32 34–38 To Figure 3 CEP55 expression studies in fibroblasts from a MARCH syndrome patient. Figure 4 Transient suppression or CRISPR/Cas9 mediated genome-editing of cep55l results in craniofacial, neurological and renal abnormalities in each of the brain and renal phenotypes could also be rescued significantly by co-injection of MO with capped human CEP55 to the primary clinical features of MARCH syndrome and indicate that the CEP55 is a functional null variant. (B) Histogram showing the localisation of mRFP-tagged CEP55 proteins in COS-7 cells following 24 and 48-hour transfections, A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis	./cache/work_wtnfwgpzqnfabpwucygbl35wyq.pdf	./txt/work_wtnfwgpzqnfabpwucygbl35wyq.txt