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Disease on EC 2.8.2.17 - chondroitin 6-sulfotransferase and Organism(s) Homo sapiens

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Adenocarcinoma
Molecular cloning, expression, and chromosomal mapping of human chondroitin 4-sulfotransferase, whose expression pattern in human tissues is different from that of chondroitin 6-sulfotransferase.
Atherosclerosis
Human chondroitin 6-sulfotransferase: cloning, gene structure, and chromosomal localization.
Brain Injuries
Chondroitin 6-sulphate synthesis is up-regulated in injured CNS, induced by injury-related cytokines and enhanced in axon-growth inhibitory glia.
chondroitin 6-sulfotransferase deficiency
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.
Clubfoot
A novel CHST3 allele associated with Spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.
Contracture
A novel CHST3 allele associated with Spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.
Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review.
Deafness
Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.
Dysostoses
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.
Glioma
OASIS regulates chondroitin 6-O-sulfotransferase 1 gene transcription in the injured adult mouse cerebral cortex.
Hearing Loss
A novel CHST3 allele associated with Spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.
Heart Septal Defects, Ventricular
Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.
Hypertension
CHST3 and CHST13 polymorphisms as predictors of bosentan-induced liver toxicity in Japanese patients with pulmonary arterial hypertension.
Intervertebral Disc Degeneration
Carbohydrate sulfotransferase 3 (CHST3) overexpression promotes cartilage endplate-derived stem cells (CESCs) to regulate molecular mechanisms related to repair of intervertebral disc degeneration by rat nucleus pulposus.
Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant.
Joint Dislocations
A novel CHST3 allele associated with Spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.
Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations.
Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review.
Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.
Leukemia
Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia: A case report.
Leukemia, Promyelocytic, Acute
Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia: A case report.
Liver Diseases
Predictive model of bosentan-induced liver toxicity in Japanese patients with pulmonary arterial hypertension.
Neoplasms
Human chondroitin 6-sulfotransferase: cloning, gene structure, and chromosomal localization.
Osteochondrodysplasias
A novel CHST3 allele associated with Spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.
A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type.
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.
Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.
Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.
Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia: A case report.
Paraplegia
A pharmacogenetic study of docetaxel and thalidomide in patients with castration-resistant prostate cancer using the DMET genotyping platform.
Psoriasis
Chondroitin 6-sulfate represses keratinocyte proliferation in mouse skin, which is associated with psoriasis.
Pulmonary Arterial Hypertension
CHST3 and CHST13 polymorphisms as predictors of bosentan-induced liver toxicity in Japanese patients with pulmonary arterial hypertension.
Pulmonary Emphysema
RNA interference targeting carbohydrate sulfotransferase 3 diminishes macrophage accumulation, inhibits MMP-9 expression and promotes lung recovery in murine pulmonary emphysema.
Seizures
Involvement of chondroitin 6-sulfation in temporal lobe epilepsy.