1 | BSS, 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
|
2 | COOD, 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
|
3 | XYLT1, 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
|
4 | XYLT2
|
| 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
|
5 | XYLT2
|
| 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
|
6 | XYLT1, 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
|
7 | ARPKD, 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
|
8 | PXE, 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
|
9 | XYLT1,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
|
10 | XYLT1, 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
|