ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome

PMC full text:

Published online 2019 Oct 10. doi: 10.1093/hmg/ddz225

Copyright/LicenseRequest permission to reuse: Copyright © The Author(s) 2019. Published by Oxford University Press. All rights reserved. For Permissions, please email: [email protected]
This article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/journals/pages/open_access/funder_policies/chorus/standard_publication_model)

Table 1

Single-gene mutations in POFUT2/B3GLCT targets causing a subset of defects in PTRPLS

System affected in PTRPLS	Human	Mouse and other species
Ocular	ADAMTS9 (59), ADAMTS10 (60), ADAMTS17 (61), ADAMTS18 (62, 63), ADAMTSL1 (64), ADAMTSL4 (65, 66)	Adamts9 (25), Adamts10 (67, 68), Adamts17 (69,70), Adamts18 (71), Adamtsl4 (72)
Craniofacial	ADAMTS3 (51), ADAMTSL1 (64), ADAMTSL2 (73)	Adamts9 (34), Adamts20 (34), Ccn2 (74, 75)
Skeletal	ADAMTS10 (60), ADAMTS17 (61), ADAMTSL1 (64), ADAMTSL2 (73)	Adamts10 (67), Adamts17 (69, 70), Adamtsl2 (76, 77), Ccn1 (78, 79), Ccn2 (74), Tsp1 (80)
Genitourinary	ADAMTSL1 (64), ADAMTS9 (59)	Adamts1 (81), Adamts4 (82), Adamts18 (71)
Cardiac	ADAMTS10 (60), ADAMTS17 (61), ADAMTSL2 (73), THSD1 (83)	Adamts1 (84), Adamts5 (85), Adamts6 (86), Adamts9 (87), Ccn1 (78, 79).