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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 B3GALT6 mutations.
Ritelli, Marco; Chiarelli, Nicola; Zoppi, Nicoletta; Dordoni, Chiara; Quinzani, Stefano; Traversa, Michele; Venturini, Marina; Calzavara-Pinton, Piergiacomo; Colombi, Marina.
Afiliação
  • Ritelli M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
  • Chiarelli N; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
  • Zoppi N; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
  • Dordoni C; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
  • Quinzani S; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
  • Traversa M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
  • Venturini M; Division of Dermatology, Department of Clinical and Experimental Sciences, Spedali Civili University Hospital, Brescia, Italy.
  • Calzavara-Pinton P; Division of Dermatology, Department of Clinical and Experimental Sciences, Spedali Civili University Hospital, Brescia, Italy.
  • Colombi M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.
Mol Genet Metab Rep ; 2: 1-15, 2015 Mar.
Article em En | MEDLINE | ID: mdl-28649518
Palavras-chave
ATCS, adducted-thumb club foot syndrome; Abs, antibodies; B3GALT6; BMP, bone morphogenetic proteins; C4ST, chondroitin 4-sulfotransferase; C6ST, chondroitin 6-sulfotransferase; COLLI, type I collagen; COLLIII, type III collagen; COLLV, type V collagen; COLLs, collagens; COMP, cartilage oligomeric matrix protein; CS, chondroitin sulfate; CSGALNACT1, chondroitin sulfate N-acetylgalactosaminyltransferase 1; CTDs, connective tissue disorders; Cartilage oligomeric matrix protein; ChPF, chondroitin polymerizing factor; ChSy, chondroitin synthase; D4ST, dermatan 4 sulfotransferase 1; DCN, decorin; DEGs, differentially expressed genes; DS, dermatan sulfate; ECM, extracellular matrix; EDS, Ehlers­Danlos syndrome; Ehlers­Danlos syndrome; FN, fibronectin; GAGs, glycosaminoglycans; GO, gene ontology; Gal, galactose; GalNAc, N-acetylgalactosamine; GalNAc4S-6ST, GalNAc 4-sulfate 6-O-sulfotransferase; GalNAcT, ß1,4-N-acetylgalactosaminyltransferase; GalNAcT-16, N-acetylgalactosaminyltransferase 16; GalT-I/II, galactosyltransferase I and II; GalT-II deficiency; GlcA, glucuronic acid; GlcAT, glucuronosyltransferase; GlcNAc, N-acetylglucosamine; GlcNAcT, α1,4-N-acetylglucosaminyltransferase; HA, hyaluronic acid; HAS2, hyaluronan synthase 2; HOX, homeobox gene family; HPO, human phenotype ontology; HS, heparan sulfate; Hep, heparin; IF, immunofluorescence microscopy studies; IdoA, iduronic acid; OPN, osteopontin; Osteopontin; PGs, proteoglycans; PTC, premature termination codon of translation; SEMDJL1, spondyloepimetaphyseal dysplasia with joint laxity type 1; Spondyloepimetaphyseal dysplasia with joint laxity type 1; TNs, tenascins; Xyl, xylose; XylT, xylosyltransferase; qPCR, quantitative polymerase chain reaction

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2015 Tipo de documento: Article