Disease on EC 2.4.1.133 - xylosylprotein 4-beta-galactosyltransferase
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Adenocarcinoma
Galactosylation of N-linked oligosaccharides by human beta-1,4-galactosyltransferases I, II, III, IV, V, and VI expressed in Sf-9 cells.
Arthritis, Rheumatoid
beta1,4-Galactosyltransferase-I contributes to the inflammatory processes in synovial tissue of patients with rheumatoid arthritis.
Astrocytoma
Over-expression of beta-1,4-galactosyltransferase I, II, and V in human astrocytoma.
Astrocytoma
Over-expression of beta-1,4-galactosyltransferase V increases the growth of astrocytoma cell line.
Breast Neoplasms
Arachidonic acid induces an increase of ?-1,4-galactosyltransferase I expression in MDA-MB-231 breast cancer cells.
Carcinoma, Hepatocellular
Identification of beta-1,4-galactosyltransferase I as a target gene of HBx-induced cell cycle progression of hepatoma cell.
Cataract
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Chlamydia Infections
Attachment of Chlamydia trachomatis L2 to host cells requires sulfation.
Chondrosarcoma
Kinetics of intracellular processing of chondroitin sulfate proteoglycan core protein and other matrix components.
Coloboma
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.
Dwarfism
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.
Ehlers-Danlos Syndrome
Biochemical and thermodynamic characterization of mutated beta1,4-galactosyltransferases 7 involved in the progeroid form of the Ehlers-Danlos syndrome.
Ehlers-Danlos Syndrome
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
Ehlers-Danlos Syndrome
Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (ss4GalT-7) deficient form of Ehlers-Danlos syndrome.
Ehlers-Danlos Syndrome
Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family.
Ehlers-Danlos Syndrome
Defective glycosaminoglycan substitution of decorin in a patient with progeroid syndrome is a direct consequence of two point mutations in the galactosyltransferase I (beta4GalT-7) gene.
Ehlers-Danlos Syndrome
Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7).
Ehlers-Danlos Syndrome
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.
Ehlers-Danlos Syndrome
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.
Ehlers-Danlos Syndrome
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.
Ehlers-Danlos Syndrome
Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations.
Ehlers-Danlos Syndrome
Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene.
Ehlers-Danlos Syndrome
Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency.
Ehlers-Danlos Syndrome
Redefining the progeroid form of ehlers-danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature.
Ehlers-Danlos Syndrome
Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.
Glaucoma
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Glioblastoma
Over-expression of beta-1,4-galactosyltransferase I, II, and V in human astrocytoma.
Herpes Zoster
Characterization of a novel ZP3-independent sperm-binding ligand that facilitates sperm adhesion to the egg coat.
Hydrocephalus
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.
Joint Instability
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.
Joint Instability
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Lung Neoplasms
Elevated beta1,4-galactosyltransferase I in highly metastatic human lung cancer cells. Identification of E1AF as important transcription activator.
Melanoma
The level of cell surface beta1,4-galactosyltransferase I influences the invasive potential of murine melanoma cells.
Muscle Hypotonia
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Muscular Diseases
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.
Neoplasms
Correlated gene expression between beta-1,4-galactosyltransferase V and N-acetylglucosaminyltransferase V in human cancer cell lines.
Neoplasms
Galactosyltransferase associated with tumor in patients with ovarian cancer: factors involved in elevation of serum galactosyltransferase.
Neoplasms
Identification of beta-1,4-galactosyltransferase I as a target gene of HBx-induced cell cycle progression of hepatoma cell.
Neoplasms
Sequential action of Ets-1 and Sp1 in the activation of the human beta-1,4-galactosyltransferase V gene involved in abnormal glycosylation characteristic of cancer cells.
Neoplasms
The role of TNF-alpha and its receptors in the production of beta-1,4 galactosyltransferase I and V mRNAs by rat primary astrocytes.
Neoplasms
The role of TNF-alpha and its receptors in the production of beta-1,4-galactosyltransferase I mRNA by rat primary type-2 astrocytes.
Neoplasms
Transcriptional regulation of the human beta-1,4-galactosyltransferase V gene in cancer cells: essential role of transcription factor Sp1.
Neuroblastoma
Transcriptional regulation of the human beta-1,4-galactosyltransferase V gene in cancer cells: essential role of transcription factor Sp1.
Ovarian Neoplasms
Galactosyltransferase associated with tumor in patients with ovarian cancer: factors involved in elevation of serum galactosyltransferase.
Pectus Carinatum
Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-Report of the second family with B3GAT3 mutation and expansion of the phenotype.
Refractive Errors
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Refractive Errors
Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-Report of the second family with B3GAT3 mutation and expansion of the phenotype.
Retinal Detachment
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Skin Abnormalities
Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-Report of the second family with B3GAT3 mutation and expansion of the phenotype.
Spinal Cord Injuries
Altered beta-1,4-galactosyltransferase I expression during early inflammation after spinal cord contusion injury.
Strabismus
Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.
Tauopathies
Altered protein glycosylation predicts Alzheimer's disease and modulates its pathology in disease model Drosophila.
xylosylprotein 4-beta-galactosyltransferase deficiency
A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome.
xylosylprotein 4-beta-galactosyltransferase deficiency
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.
xylosylprotein 4-beta-galactosyltransferase deficiency
Hypomorphic zebrafish models mimic the musculoskeletal phenotype of ?4GalT7-deficient Ehlers-Danlos syndrome.
xylosylprotein 4-beta-galactosyltransferase deficiency
Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency.
xylosylprotein 4-beta-galactosyltransferase deficiency
Redefining the progeroid form of ehlers-danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature.
xylosylprotein 4-beta-galactosyltransferase deficiency
Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.
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