PMC Links for GEO Profiles (Select 37693572) - PMC

Select item 65986951.

Xylosyltransferase II is the predominant isoenzyme which is responsible for the steady-state level of xylosyltransferase activity in human serum

Joachim Kuhn, Christian Götting, Brendan J. Beahm, Carolyn R. Bertozzi, Isabel Faust, Patricia Kuzaj, Cornelius Knabbe, Doris Hendig

Biochem Biophys Res Commun. Author manuscript; available in PMC 2019 Jun 28.

Published in final edited form as: Biochem Biophys Res Commun. 2015 Apr 10; 459(3): 469–474. Published online 2015 Mar 3. doi: 10.1016/j.bbrc.2015.02.129

PMCID:: PMC6598695

Abstract Article PDF–840K

Select item 44579472.

Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects

Craig F. Munns, Somayyeh Fahiminiya, Nabin Poudel, Maria Cristina Munteanu, Jacek Majewski, David O. Sillence, Jordan P. Metcalf, Andrew Biggin, Francis Glorieux, François Fassier, Frank Rauch, Myron E. Hinsdale

Am J Hum Genet. 2015 Jun 4; 96(6): 971–978. doi: 10.1016/j.ajhg.2015.04.017

PMCID:: PMC4457947

Abstract Article PDF–1.2M

Select item 31780593.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 18905094.

Polycystic disease caused by deficiency in xylosyltransferase 2, an initiating enzyme of glycosaminoglycan biosynthesis

Eduard Condac, Robert Silasi-Mansat, Stanley Kosanke, Trenton Schoeb, Rheal Towner, Florea Lupu, Richard D. Cummings, Myron E. Hinsdale

Proc Natl Acad Sci U S A. 2007 May 29; 104(22): 9416–9421. Published online 2007 May 21. doi: 10.1073/pnas.0700908104

PMCID:: PMC1890509

Abstract Article PDF–1.5M

Select item 1392415.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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