Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement
about
Faulty initiation of proteoglycan synthesis causes cardiac and joint defectsFurther delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesisA role for a lithium-inhibited Golgi nucleotidase in skeletal development and sulfationThe molecular biology, biochemistry, and physiology of human steroidogenesis and its disordersThe Regulation of Steroid Action by Sulfation and DesulfationHuman genetic disorders and knockout mice deficient in glycosaminoglycanSulphate in pregnancyRedundant function of the heparan sulfate 6-O-endosulfatases Sulf1 and Sulf2 during skeletal developmentFunctional Characterization of the Osteoarthritis Susceptibility Mapping to CHST11-A Bioinformatics and Molecular StudyKelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathyLoss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.The different roles of aggrecan interaction domainsPAPSS2 promotes alkaline phosphates activity and mineralization of osteoblastic MC3T3-E1 cells by crosstalk and Smads signal pathways.Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndromeBiphasic role of chondroitin sulfate in cardiac differentiation of embryonic stem cells through inhibition of Wnt/β-catenin signalingChondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.Chondroitin sulfate-E mediates estrogen-induced osteoanabolism.A genetic predictive model for canine hip dysplasia: integration of Genome Wide Association Study (GWAS) and candidate gene approaches.Chondroitin / dermatan sulfate modification enzymes in zebrafish development.Sulphated glycosaminoglycans and proteoglycans in the developing vertebral column of juvenile Atlantic salmon (Salmo salar).Matrix disruptions, growth, and degradation of cartilage with impaired sulfation.Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease.RNA interference targeting carbohydrate sulfotransferase 3 diminishes macrophage accumulation, inhibits MMP-9 expression and promotes lung recovery in murine pulmonary emphysemaSrc kinase inhibition promotes the chondrocyte phenotype.Genetics of disc degeneration.Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosisA novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindredDyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic.Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant.Glycosylation diseases: quo vadis?Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.Glycosaminoglycans are functional ligands for receptor for advanced glycation end-products in tumors.Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycansCongenital disorders of glycosylation and intellectual disability.Chondroitin 4-O-sulfotransferase-1 modulates Wnt-3a signaling through control of E disaccharide expression of chondroitin sulfate.Highly sulfated hexasaccharide sequences isolated from chondroitin sulfate of shark fin cartilage: insights into the sugar sequences with bioactivities.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.Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.Notochord Cells in Intervertebral Disc Development and DegenerationExpression of N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase involved in chondroitin sulfate synthesis is responsible for pulmonary metastasis.
P2860
Q24314605-9CAC6F1E-74A5-4193-B2D7-35DAB874CCB9Q24317477-472AEEC3-B562-4302-A53D-E7B31CEF414EQ24322895-52066DD3-9980-4BC0-B1F3-CC8126FAE97CQ24613957-498EC7E6-4186-4337-8972-0BA4B77BDEE7Q26799364-884AE991-CC5A-47D4-98A1-6C619C295345Q26995332-5ED572E7-02AB-4AA4-8309-312D7FDCE3C3Q28083379-09C242FC-9E6E-48D7-81AA-60715118BB31Q28512642-EF8F8041-1A4E-4C5F-85BA-C2C82CA024BEQ28596544-5B08CAC6-473E-4853-9400-4EE64CA5707FQ33944189-C88E36FF-D438-4B18-BAF2-3A357CDF72B9Q34087616-C0DB4798-DC56-4BC0-B186-5A7FCAC57219Q34302374-5BBDDF60-CF61-4601-BD26-5EBF7333AD32Q34391648-23430084-E61A-483D-A875-409A9491D7DBQ34416602-E9F8523D-ED91-4B77-B7ED-77B1E4DD7FA0Q35131282-C9B79525-88D8-4999-B97B-D6FF9A30FD7CQ35136967-C5236846-B16A-49DC-B4CB-6EB28A4DBB47Q35165763-3AF1E34A-F2E8-4941-975A-BED76DCA651BQ35390459-40ABFCE5-F76F-4DA3-BB0E-CFADAB4C33A2Q35582589-546F2A33-1AA1-44B6-9FBF-4DBFAFCDC7D8Q35830938-8309A610-4695-4F53-B3D8-676577F5D488Q36052473-1E8BE66E-2515-435C-92F2-53545CF853DCQ36098636-C4C6D216-3FF3-4178-8603-F6E72D250E4AQ36358172-1ADEB456-3724-4FDB-A296-BB32E976B7BAQ36401931-7D1219A0-0A4D-42D1-B387-9D4FABB3812BQ36526935-92FE2A8F-C2FB-4B3B-8050-DE1FC2D36E11Q36719190-7CFC29F6-70CE-41D6-98B2-082DF7D8197EQ36909487-D9887207-80FF-4787-88D9-11B839C1A8DAQ36945156-B4FC33CA-092E-47A6-902F-B8D88E5D1115Q37259242-6EB2DB82-110F-40D6-A179-5002B5CA478DQ37343144-335F9BC8-EDEA-4EC2-B65D-A81989A68531Q38043952-CD9631C4-D6EE-4FB1-A561-3920E4AEBD8CQ38077593-0EB97761-4C18-4761-95A9-AD0E56759800Q38086228-7FCCF358-0955-4044-B086-5AFC0BD234F2Q38116810-3C204A28-7013-4644-9FA0-8702975FF9CFQ38288783-2564F387-DC5E-4C9D-96CC-CA5895EE1308Q38321285-3359C8B8-0E24-4904-BA99-17997FD97D84Q38470441-5E4C4842-5BD4-4E3A-9763-94C9ECB0E55AQ38675062-BBFC6893-2106-429C-A229-384D18461806Q38851299-3C7EE265-524C-497B-A428-D366970CC95BQ39171591-7552F856-DFF4-468A-A4E6-8F91BACB8093
P2860
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Loss of chondroitin 6-O-sulfot ...... progressive spinal involvement
@ast
Loss of chondroitin 6-O-sulfot ...... progressive spinal involvement
@en
type
label
Loss of chondroitin 6-O-sulfot ...... progressive spinal involvement
@ast
Loss of chondroitin 6-O-sulfot ...... progressive spinal involvement
@en
prefLabel
Loss of chondroitin 6-O-sulfot ...... progressive spinal involvement
@ast
Loss of chondroitin 6-O-sulfot ...... progressive spinal involvement
@en
P2093
P2860
P356
P1476
Loss of chondroitin 6-O-sulfot ...... progressive spinal involvement
@en
P2093
Anna Rajab
Gundula Leschik
Heide Ritter
Hiroshi Kitagawa
Holger Thiele
Kazuyuki Sugahara
Masahiro Sakano
Stefan Mundlos
Wolfgang Höhne
P2860
P304
10155-10160
P356
10.1073/PNAS.0400334101
P407
P577
2004-06-23T00:00:00Z