Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations.

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Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations. is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1016/S0304-4165(02)00406-3
P698PubMed publication ID12417421

P50authorTetsuya OkajimaQ37382138
P2093author name stringKoichi Furukawa
P2860cites workDevelopmental Regulation of Neural Response to FGF-1 and FGF-2 by Heparan Sulfate ProteoglycanQ52225676
Three proteins involved in Caenorhabditis elegans vulval invagination are similar to components of a glycosylation pathwayQ22008748
Human homolog of Caenorhabditis elegans sqv-3 gene is galactosyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycansQ22010476
Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene familyQ22010511
Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I geneQ22010593
Molecular cloning and expression of human UDP-d-Xylose:proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-IIQ24290566
Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta 1,3-galactosyltransferase family (beta 3GalT6)Q24291678
A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndromeQ24559196
Identification of the full-length coding sequence for human galactosyltransferase (beta-N-acetylglucosaminide: beta 1,4-galactosyltransferase)Q28291454
Molecular cloning and expression of glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycansQ28609291
Assignment of human xylosylprotein beta-1,4-galactosyltransferase gene (B4GALT7) to human chromosome 5q35.2-->q35.3 by in situ hybridizationQ33909557
sqv mutants of Caenorhabditis elegans are defective in vulval epithelial invaginationQ34941722
The role of proteoglycans in cell adhesion, migration and proliferationQ35455376
Microbial adherence to and invasion through proteoglycansQ35533138
sqv-3, -7, and -8, a set of genes affecting morphogenesis in Caenorhabditis elegans, encode enzymes required for glycosaminoglycan biosynthesisQ37262651
P433issue3
P407language of work or nameEnglishQ1860
P921main subjectEhlers-Danlos syndromeQ1141499
P304page(s)377-381
P577publication date2002-12-01
P1433published inBiochimica et Biophysica ActaQ864239
P1476titleGalactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations
P478volume1573

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cites work (P2860)
Q80230024A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type
Q42141872Age-dependent alterations of decorin glycosaminoglycans in human skin
Q42920436Biochemical and thermodynamic characterization of mutated β1,4-galactosyltransferase 7 involved in the progeroid form of the Ehlers–Danlos syndrome
Q36713827Biosynthesis of chondroitin sulfate: from the early, precursor discoveries to nowadays, genetics approaches.
Q40482578Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.
Q52100047Essential role of glycosaminoglycans in Fgf signaling during mouse gastrulation.
Q44456230Expression of eukaryotic glycosyltransferases in the yeast Pichia pastoris.
Q37314430Expression of genes encoding for proteins involved in heparan sulphate and chondroitin sulphate chain synthesis and modification in normal and malignant plasma cells
Q37343144Glycosylation diseases: quo vadis?
Q36216124Heparan sulphate proteoglycans: the sweet side of development
Q24322834Oligosaccharide preferences of beta1,4-galactosyltransferase-I: crystal structures of Met340His mutant of human beta1,4-galactosyltransferase-I with a pentasaccharide and trisaccharides of the N-glycan moiety
Q42021921Probing the acceptor active site organization of the human recombinant β1,4-galactosyltransferase 7 and design of xyloside-based inhibitors
Q57210200Synthesis and Preliminary Evaluation of Biological Activity of Glycoconjugates Analogues of Acyclic Uridine Derivatives
Q47425765Synthesis of a library of variously modified 4-methylumbelliferyl xylosides and a structure-activity study of human β4GalT7.
Q47686477The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

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