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Disease on EC 2.4.2.26 - protein xylosyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Adenoma, Pleomorphic
The relationship between proteoglycan inhibition via xylosyltransferase II silencing and the implantation of salivary pleomorphic adenoma.
Astrocytoma
Circulating microRNAs as Biomarkers for Pediatric Astrocytomas.
Cardiomyopathy, Dilated
Transforming growth factor beta1-regulated xylosyltransferase I activity in human cardiac fibroblasts and its impact for myocardial remodeling.
Cataract
Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes.
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
Spondyloocular Syndrome - Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.
Cysts
Polycystic disease caused by deficiency in xylosyltransferase 2, an initiating enzyme of glycosaminoglycan biosynthesis.
Diabetes Complications
Identification of a xylosyltransferase II gene haplotype marker for diabetic nephropathy in type 1 diabetes.
Diabetes Mellitus, Type 1
Identification of a xylosyltransferase II gene haplotype marker for diabetic nephropathy in type 1 diabetes.
Impact of polymorphisms in the genes encoding xylosyltransferase I and a homologue in type 1 diabetic patients with and without nephropathy.
Novel sequence variants in the human xylosyltransferase I gene and their role in diabetic nephropathy.
Diabetic Nephropathies
Human xylosyltransferases in health and disease.
Identification of a xylosyltransferase II gene haplotype marker for diabetic nephropathy in type 1 diabetes.
The Xylosyltransferase I Gene Polymorphism c.343G>T (p.A125S) Is a Risk Factor for Diabetic Nephropathy in Type 1 Diabetes.
Essential Hypertension
Xylosyltransferase gene variants and their role in essential hypertension.
Glaucoma
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Hearing Loss
Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes.
Spondyloocular Syndrome - Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.
Hearing Loss, Sensorineural
Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
Infections
Hepatitis C virus infection propagates through interactions between Syndecan-1 and CD81 and impacts the hepatocyte glycocalyx.
Sulfonated azo dyes enhance the genome release of enterovirus A71 VP1-98K variants by preventing the virions from being trapped by sulfated glycosaminoglycans at acidic pH.
Joint Diseases
UDP-D-xylose: proteoglycan core protein beta-D-xylosyltransferase: a new marker of cartilage destruction in chronic joint diseases.
Kidney Diseases
Polycystic disease caused by deficiency in xylosyltransferase 2, an initiating enzyme of glycosaminoglycan biosynthesis.
Lipodystrophy
Adipose tissue loss and lipodystrophy in xylosyltransferase II deficient mice.
Mastocytoma
Glycosylation of serine residues by a uridine diphosphate-xylose: protein xylosyltransferase from mouse mastocytoma.
Mucopolysaccharidosis III
Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease.
Neoplasms
The relationship between proteoglycan inhibition via xylosyltransferase II silencing and the implantation of salivary pleomorphic adenoma.
Xylosyltransferase II is a significant contributor of circulating xylosyltransferase levels and platelets constitute an important source of xylosyltransferase in serum.
Osteoarthritis
Human xylosyltransferases in health and disease.
Serum xylosyltransferase 1 level increases during early posttraumatic osteoarthritis in mice with high bone forming potential.
Osteoporosis
Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes.
Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility.
Spondyloocular Syndrome - Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.
protein xylosyltransferase deficiency
Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.
Xylosyltransferase 2 deficiency and organ homeostasis.
Pseudoxanthoma Elasticum
Human xylosyltransferases in health and disease.
Refractive Errors
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Retinal Detachment
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Stomach Neoplasms
Glucoside xylosyltransferase 2 as a diagnostic and prognostic marker in gastric cancer via comprehensive analysis.
Strabismus
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.