id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_un66n7cbrzgj3clf6mozizetiu	Chunqiao Liu	A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma	2016	32	.pdf	application/pdf	8393	920	58	Liu, C, Widen, S, Williamson, K, Ratnapriya, R, Gerth-Kahlert, C, Rainger, J, Alur, R, Strachan, E, OJ, FitzPatrick, D & Swaroop, A 2016, 'A Secreted WNT-Ligand Binding Domain of FZD5 Generated by a Frameshift Mutation Causes Autosomal Dominant Coloboma', Human Molecular Genetics. https://www.research.ed.ac.uk/portal/en/publications/a-secreted-wntligand-binding-domain-of-fzd5-generated-by-a-frameshift-mutation-causes-autosomal-dominant-coloboma(c0142ad9-871c-417b-94fb-163651627c9b).html A Secreted WNT-Ligand Binding Domain of FZD5 Generated by a Frameshift Mutation and directly implicate WNT-FZD signaling both in normal closure of the human optic fissure therefore directly implicates WNT-FZD signaling in the pathogenesis of human coloboma. A219Xfs*49 mutation is thus likely to result in production of a truncated FZD5 protein with an that the eye size was similar when either WT or FZD5-A219Xfs*49 mutant was overexpressed (Supplementary Fig. 5). FZD5 A219Xfs*49 is a secreted protein that binds to Wnt but is incapable of mediating act non-cell autonomously and antagonize WNT-FZD5 activity expressed from the wild type Like sCRD, FZD5 A219Xfs*49 mutant protein is not able to mediate Wnt9binduced canonical Wnt signaling.	./cache/work_un66n7cbrzgj3clf6mozizetiu.pdf	./txt/work_un66n7cbrzgj3clf6mozizetiu.txt