Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis
about
Faulty initiation of proteoglycan synthesis causes cardiac and joint defectsFurther delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesisThe Regulation of Steroid Action by Sulfation and DesulfationHuman genetic disorders and knockout mice deficient in glycosaminoglycanDefective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.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.A genetic predictive model for canine hip dysplasia: integration of Genome Wide Association Study (GWAS) and candidate gene approaches.Matrix disruptions, growth, and degradation of cartilage with impaired sulfation.A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindredLumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant.Glycosylation diseases: quo vadis?Identification of CANT1 mutations in Desbuquois dysplasia.One Stage Bilateral Total Hip Arthroplasty in Siblings with Larsen Syndrome.XYLT1 mutations in Desbuquois dysplasia type 2.Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycansInsights 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 DegenerationGZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome.Cartilage ultrastructure in proteoglycan-deficient zebrafish mutants brings to light new candidate genes for human skeletal disorders.Defective CHST3 does not transfer SO4(2-) to chondroitinChondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases.Two somali half-siblings withCHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability
P2860
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P2860
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Congenital joint dislocations ...... e and humero-spinal dysostosis
@ast
Congenital joint dislocations ...... e and humero-spinal dysostosis
@en
type
label
Congenital joint dislocations ...... e and humero-spinal dysostosis
@ast
Congenital joint dislocations ...... e and humero-spinal dysostosis
@en
prefLabel
Congenital joint dislocations ...... e and humero-spinal dysostosis
@ast
Congenital joint dislocations ...... e and humero-spinal dysostosis
@en
P2093
P2860
P1476
Congenital joint dislocations ...... e and humero-spinal dysostosis
@en
P2093
Antonio Perez-Aytes
Antonio Rossi
Bernhard Zabel
Fabio Pecora
Gen Nishimura
Hector Cortina
Jürgen Spranger
Kerstin Reicherter
Loredana Boccone
Luca Sangiorgi
P2860
P304
P356
10.1016/J.AJHG.2008.05.006
P407
P577
2008-06-01T00:00:00Z