نتایج جستجو برای: carbohydrate sulfotransferase 6 gene chst6
تعداد نتایج: 2014793 فیلتر نتایج به سال:
Hereditary angioedema is a rare genetically determined disease characterized by the recurrent of various localizations with no response to systemic glucocorticosteroids, antihistamines.
 In majority hereditary cases C1-inhibitor level or its functional activity decreased due mutation in SERPING1 gene. recent years, expansion genetic diagnostic recourses significantly changed our understand...
Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotransferase) has been reported in a single kindred so far and in association with a phenotype of severe chondrodysplasia with progressive spinal involvement. We report eight CHST3 mutations in six unrelated individuals who presented at birth with congenital joint dislocations. These patients had been given a ...
BackgroundHereditary angioedema (HAE) is a potentially fatal disorder resulting in recurrent attacks of severe swelling. It may be associated with genetic deficiency functional C1 inhibitor or normal (HAEnCI). In families HAEnCI, HAE-linked mutations the F12, PLG, KNG1, ANGPT1, MYOF genes have been identified. many HAEnCI cause disease currently unknown.ObjectiveThe aim this study was to identi...
Recently, we proposed sialyl 6-sulfo Lewis X as a major carbohydrate-capping group of the L-selectin ligands on high endothelial venules in human lymph nodes. In this study we succeeded in reconstituting functional L-selectin ligands on a cultured human endothelial cell line, ECV304, by transfecting the alpha1-->3fucosyltranseferase VII (Fuc-T VII) and newly cloned GlcNAcbeta:6-sulfotransferase...
L-selectin mediates lymphocyte homing by facilitating lymphocyte adhesion to carbohydrate ligands expressed on high endothelial venules (HEV) of the secondary lymphoid organs. Previous studies demonstrated that L-selectin ligand sulfotransferase (LSST) forms 6-sulfo sialyl Lewis x (sLe(x)) on both core 2 branch and MECA-79-positive extended core 1 O-glycans, but the chemical nature and roles of...
OBJECTIVE To assess the main clinical, genetic, histopathological and ultrastructural features of Mexican patients with macular corneal dystrophy, and to compare the results with those previously reported. METHOD We analyzed six cases where a histopathologic diagnosis of macular corneal dystrophy had been made between 1957 and 2004. RESULTS Clinically, all corneas showed focal grayish-white...
To determine whether the dexamethasone (DEX)-inducible hepatic sulfotransferase gene expression that has been described in the rat is conserved in humans, the effects of DEX treatment on hydroxysteroid sulfotransferase (SULT2A1) and aryl sulfotransferase (SULT1A1) gene expression were investigated in primary cultured human hepatocytes. Hepatocytes were prepared from nontransplantable human live...
Luteinizing hormone (LH), produced in the anterior lobe of the pituitary, is a member of the hypothalamic-pituitary-gonad axis that is required for production of the sex hormones estradiol, progesterone, and testosterone. Perturbations in levels of hormones associated with this axis can result in defects in sexual development and maturity. LH bears unique N-linked carbohydrate units that termin...
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