Novel candidate genes putatively involved in stress fracture predisposition detected by whole-exome sequencing.
Israel. In Genet Res (camb), 2013
Of these, three missense mutations (rs7426114, rs4073918, rs3752135 in the NEB, SLC6A18 and SIGLEC12 genes, respectively) and three synonymous mutations (rs2071856, rs2515941, rs716745 in the ELFN2, GRK4, LRRC55 genes) displayed significant different rates in SF cases compared with controls.
Kidney amino acid transport.
Zürich, Switzerland. In Pflugers Arch, 2009
A new finding is that the luminal Na(+)-dependent neutral amino acid transporters of the SLC6 family require an associated protein for their surface expression as shown for the Hartnup transporter B(0)AT1 (SLC6A19) and suggested for the L: -proline transporter SIT1 (IMINO(B), SLC6A20) and for B(0)AT3 (XT2, SLC6A18).
Human xylosyltransferases in health and disease.
Bad Oeynhausen, Germany. In Cell Mol Life Sci, 2007
The xylosyltransferases I and II (XT-I, XT-II, EC 18.104.22.168) catalyze the transfer of xylose from UDP-xylose to selected serine residues in the proteoglycan core protein, which is the initial and ratelimiting step in glycosaminoglycan biosynthesis.
The never-ending story of peptide O-xylosyltransferase.
Vienna, Austria. In Cell Mol Life Sci, 2004
In a journey lasting 40 years from the first reports on its activity in the 1960s to its purification and the cloning of relevant complementary DNAs, peptide O-xylosyltransferase has finally arrived at the same point as many other enzymes.