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Human Polyclonal XYLT1 Primary Antibody für IHC, IHC (p) - ABIN4366482
McCoy, Falgowski, Srinivasan, Thompson, Selva, Kirn-Safran: Serum xylosyltransferase 1 level increases during early posttraumatic osteoarthritis in mice with high bone forming potential. in Bone 2012
Notch (zeige NOTCH1 Antikörper)-modifying xylosyltransferase structures support an SNi-like retaining mechanism.
We show that the pug (zeige MTHFD1 Antikörper) mutation disrupts Xylt1 activity and subcellular localization, leading to a reduction in GAG chains in pug (zeige MTHFD1 Antikörper) mutants. The pug (zeige MTHFD1 Antikörper) mutant serves as a novel model for mammalian dwarfism.
In conclusion, we identified two genes, DZIP1 (zeige DZIP1 Antikörper) and XYLT1, potentially associated with nonsyndromic high myopia using whole exome sequencing and subsequent mutation screening analysis.
Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2, have been reported.
Our study describes the first case of DBQD2 resulting from compound heterozygous XYLT1 mutation, expands the mutational spectrum of the disease and provides evidence that the severe growth retardation and microsomia observed in DBQD2 patients may result not only from the skeletal dysplasia itself but also from GH and IGF-1 (zeige IGF1 Antikörper) deficiency.
XYLT1 mutation is associated with short limb skeletal dysplasia.
Human XYLT1 promoter sequence analysis and description.
These results suggest that XT-1 expression is refractory to the disease process and to inhibition by inflammatory cytokines and that signaling through AP-1, Sp1, and Sp3 is important in the maintenance of XT-1 levels in NP cells.
five distinct homozygous XYLT1 mutations may have a role in Desbuquois dysplasia type 2
A family study shows that functional alterations of XYLT1 cause an autosomal recessive short stature syndrome associated with intellectual disability.
XYLT1 activity increased time-dependently in response to progressive myofibroblast transformation.
AP-1 (zeige FOSB Antikörper) and Sp3 (zeige SP3 Antikörper) are key regulators of IL-1beta (zeige IL1B Antikörper)-mediated modulation of xylosyltransferase I expression.
This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.
UDP-D-xylose:core protein beta-D-xylosyltransferase
, xylosyltransferase I
, peptide O-xylosyltransferase 1
, O-xylosyltransferase 1
, beta-D-xylosyltransferase 1
, xylosyltransferase 1
, xylosyltransferase iota
, protein xylosyltransferase