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Items: 3

Select item 93811591.

ADAMTSL2 gene variant in patients with features of autosomal dominant connective tissue disorders

Jacob Steinle, Waheeda A. Hossain, Scott Lovell, Olivia J. Veatch, Merlin G. Butler

Am J Med Genet A. Author manuscript; available in PMC 2022 Aug 16.

Published in final edited form as: Am J Med Genet A. 2021 Mar; 185(3): 743–752. Published online 2020 Dec 27. doi: 10.1002/ajmg.a.62030

PMCID:: PMC9381159

Abstract Article PDF–656K

Select item 76679672.

O-Fucosylation of ADAMTSL2 is required for secretion and is impacted by geleophysic dysplasia-causing mutations

Ao Zhang, Steven J. Berardinelli, Christina Leonhard-Melief, Deepika Vasudevan, Ta-Wei Liu, Andrew Taibi, Sharee Giannone, Suneel S. Apte, Bernadette C. Holdener, Robert S. Haltiwanger

J Biol Chem. 2020 Nov 13; 295(46): 15742–15753. Published online 2020 Sep 10. doi: 10.1074/jbc.RA120.014557

PMCID:: PMC7667967

Abstract Article PDF–1.8M

Select item 29414563.

An ADAMTSL2 Founder Mutation Causes Musladin-Lueke Syndrome, a Heritable Disorder of Beagle Dogs, Featuring Stiff Skin and Joint Contractures

Hannah L. Bader, Alison L. Ruhe, Lauren W. Wang, Aaron K. Wong, Kari F. Walsh, Rebecca A. Packer, Jonathan Mitelman, Kathryn R. Robertson, Dennis P. O'Brien, Karl W. Broman, G. Diane Shelton, Suneel S. Apte, Mark W. Neff

PLoS One. 2010; 5(9): e12817. Published online 2010 Sep 17. doi: 10.1371/journal.pone.0012817