换一批Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel <i>B3GALT6</i> mutations.
第一作者：
Marco,Ritelli
第一单位：
Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
作者：
关键词
ATCS, adducted-thumb club foot syndromeAbs, antibodiesB3GALT6BMP, bone morphogenetic proteinsC4ST, chondroitin 4-sulfotransferaseC6ST, chondroitin 6-sulfotransferaseCOLLI, type I collagenCOLLIII, type III collagenCOLLV, type V collagenCOLLs, collagensCOMP, cartilage oligomeric matrix proteinCS, chondroitin sulfateCSGALNACT1, chondroitin sulfate N-acetylgalactosaminyltransferase 1CTDs, connective tissue disordersCartilage oligomeric matrix proteinChPF, chondroitin polymerizing factorChSy, chondroitin synthaseD4ST, dermatan 4 sulfotransferase 1DCN, decorinDEGs, differentially expressed genesDS, dermatan sulfateECM, extracellular matrixEDS, Ehlers–Danlos syndromeEhlers–Danlos syndromeFN, fibronectinGAGs, glycosaminoglycansGO, gene ontologyGal, galactoseGalNAc, N-acetylgalactosamineGalNAc4S-6ST, GalNAc 4-sulfate 6-O-sulfotransferaseGalNAcT, β1,4-N-acetylgalactosaminyltransferaseGalNAcT-16, N-acetylgalactosaminyltransferase 16GalT-I/II, galactosyltransferase I and IIGalT-II deficiencyGlcA, glucuronic acidGlcAT, glucuronosyltransferaseGlcNAc, N-acetylglucosamineGlcNAcT, α1,4-N-acetylglucosaminyltransferaseHA, hyaluronic acidHAS2, hyaluronan synthase 2HOX, homeobox gene familyHPO, human phenotype ontologyHS, heparan sulfateHep, heparinIF, immunofluorescence microscopy studiesIdoA, iduronic acidOPN, osteopontinOsteopontinPGs, proteoglycansPTC, premature termination codon of translationSEMDJL1, spondyloepimetaphyseal dysplasia with joint laxity type 1Spondyloepimetaphyseal dysplasia with joint laxity type 1TNs, tenascinsXyl, xyloseXylT, xylosyltransferaseqPCR, quantitative polymerase chain reaction
DOI
10.1016/j.ymgmr.2014.11.005
PMID
28649518
发布时间
2020-09-30
- 浏览44
Molecular genetics and metabolism reports
2015年2卷
1-15页
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