نتایج جستجو برای: carbohydrate sulfotransferase 6 gene chst6

تعداد نتایج: 2014793  

Journal: : 2023

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...

Journal: :American journal of human genetics 2008
Pia Hermanns Sheila Unger Antonio Rossi Antonio Perez-Aytes Hector Cortina Luisa Bonafé Loredana Boccone Valeria Setzu Michel Dutoit Luca Sangiorgi Fabio Pecora Kerstin Reicherter Gen Nishimura Jürgen Spranger Bernhard Zabel Andrea Superti-Furga

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 ...

Journal: :The Journal of Allergy and Clinical Immunology 2021

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...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1999
N Kimura C Mitsuoka A Kanamori N Hiraiwa K Uchimura T Muramatsu T Tamatani G S Kansas R Kannagi

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...

Journal: :The Journal of biological chemistry 2004
Nobuyoshi Hiraoka Hiroto Kawashima Bronislawa Petryniak Jun Nakayama Junya Mitoma Jamey D Marth John B Lowe Minoru Fukuda

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...

Journal: :Archivos de la Sociedad Espanola de Oftalmologia 2006
R Gulias-Cañizo R Castañeda-Díez A Gómez-Leal G K Klintworth A A Rodríguez-Reyes

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...

Journal: :Drug metabolism and disposition: the biological fate of chemicals 2002
Zhengbo Duanmu Deborah Locke Jeffrey Smigelski Wei Wu Michael S Dahn Charles N Falany Thomas A Kocarek Melissa Runge-Morris

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...

Journal: :The Journal of clinical investigation 2008
Yiling Mi Dorothy Fiete Jacques U Baenziger

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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