Citations for
1BSS, COOD, XYLT1, XYLT2
Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes.
Taylan F, Mäkitie O.
Horm Metab Res 48(11):745-754. Epub 2016 Nov 21. Review. 2016
2COOD, XYLT2
Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects.
Munns CF, Fahiminiya S, Poudel N, Munteanu MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME.
Am J Hum Genet 96(6):971-8. doi: 10.1016/j.ajhg.2015.04.017. Epub 2015 May 28. 2015
3XYLT1, XYLT2
Identification and characterization of human xylosyltransferase II promoter single nucleotide variants.
Faust I, Böker KO, Eirich C, Akkermann D, Kuhn J, Knabbe C, Hendig D.
Biochem Biophys Res Commun 458(4):901-7. doi: 10.1016/j.bbrc.2015.02.056. Epub 2015 Feb 19. 2015
4XYLT2
First identification and functional analysis of the human xylosyltransferase II promoter.
Müller B, Prante C, Knabbe C, Kleesiek K, Götting C.
Glycoconj J 30(3):237-45. doi: 10.1007/s10719-012-9439-5. Epub 2012 Aug 11. 2013
5XYLT2
Xylosyltransferase II is a significant contributor of circulating xylosyltransferase levels and platelets constitute an important source of xylosyltransferase in serum.
Condac E, Dale GL, Bender-Neal D, Ferencz B, Towner R, Hinsdale ME.
Glycobiology 19(8):829-33. doi: 10.1093/glycob/cwp058. Epub 2009 Apr 23. 2009
6XYLT1, XYLT2
Heterologous expression and biochemical characterization of soluble human xylosyltransferase II.
Casanova JC, Kuhn J, Kleesiek K, Götting C.
Biochem Biophys Res Commun 365(4):678-84. Epub 2007 Nov 20. 2008
7ARPKD, PKD, PKD1, PKD2, PKTS, XYLT2
Polycystic disease caused by deficiency in xylosyltransferase 2, an initiating enzyme of glycosaminoglycan biosynthesis.
Condac E, Silasi-Mansat R, Kosanke S, Schoeb T, Towner R, Lupu F, Cummings RD, Hinsdale ME.
Proc Natl Acad Sci U S A 104(22):9416-21. Epub 2007 May 21. 2007
8PXE, XYLT1, XYLT2
Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course.
Schon S, Schulz V, Prante C, Hendig D, Szliska C, Kuhn J, Kleesiek K, Gotting C.
J Med Genet 43(9):745-9. Epub 2006 Mar 29. 2006
9XYLT1,XYLT2
Impact of polymorphisms in the genes encoding xylosyltransferase I and a homologue in type 1 diabetic patients with and without nephropathy.
Schon S, Prante C, Muller S, Schottler M, Tarnow L, Kuhn J, Kleesiek K, Gotting C.
Kidney Int 68(4):1483-90. 2005
10XYLT1, XYLT2
Molecular cloning and expression of human UDP-d-Xylose:proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-II.
Gotting C, Kuhn J, Zahn R, Brinkmann T, Kleesiek K.
J Mol Biol 304(4):517-28. 2000