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We describe three consanguineous Indian families with a distinct form of spondyloepiphyseal dysplasia (SED Omani type). It is an autosomal recessive disorder due to mutation in CHST3 gene.
A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss has been described in a consanguineous Pakistani pedigree.
Sequencing of CHST3 detected a previously unreported homozygous duplication c.407_426dup (p.Thr143Cysfs*80). The mutation is predicted to lead to frameshift and introduction of a premature stopcodon.
expression of CHST3 mRNA was significantly reduced in the intervertebral disc cells of subjects carrying the A allele of rs4148941
The results of this study indicated that the critical period for cortical plasticity is regulated by the 4S/6S ratio of CSPGs, which determines the maturation of parvalbumin (show PVALB Proteins)-expressing interneurons.
Vertebral changes, normal carpal age, lack of facial flattening, and recessive inheritance are characteristic and distinguishes CHST3 deficiency from other disorders with congenital dislocations.
report eight CHST3 mutations in six unrelated individuals who presented at birth with congenital joint dislocations
Sulfation of the galactose residues in the glycosaminoglycan-protein linkage region by recombinant human chondroitin 6-O-sulfotransferase-1.
CHST3 siRNA diminishes accumulation of excessive macrophages and the mediators, leading to accelerate the functional recovery from airway damage by repair of the elastin (show ELN Proteins) network associated with pulmonary emphysema
These results suggested that chondroitin 6-sulfation is relevant to epilepsy most probably because of dysregulated perineuronal nets formation and parvalbumin (show PVALB Proteins) cell maturation.
neither KSGal6ST (show CHST1 Proteins) nor C6ST-1 is required for Siglec-F (show SIGLEC5 Proteins) ligand synthesis in leukocytes or lung tissue
the expression of chondroitin 6-sulfotransferase correlated negatively with mast cell maturation.
This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis.
, carbohydrate sulfotransferase 3
, chondroitin 6-O-sulfotransferase 1
, galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0
, carbohydrate (chondroitin 6/keratan) sulfotransferase 3
, chondroitin 6-sulfotransferase 3
, chondroitin 6-sulfotransferase