نتایج جستجو برای: carbohydrate sulfotransferase 6 gene chst6

تعداد نتایج: 2014793  

2017
Liyuan Wang Xianling Tang Xiaolin Lv Encheng Sun Donglai Wu Changlin Wang Ping Liu

Macular corneal dystrophy (MCD) is an autosomal recessive disorder mainly caused by gene mutations of carbohydrate sulfotransferase (CHST6) leading to bilateral visual impairment. Because the mechanism underlying this degeneration remains poorly understood, we investigated molecular alterations and pathways that may be involved in MCD in this issue. Different mutation sites were screened by dir...

Journal: :Investigative ophthalmology & visual science 2003
Florence Niel Pierre Ellies Paul Dighiero Jeannette Soria Celia Sabbagh Chankannira San Gilles Renard Marc Delpech Sophie Valleix

PURPOSE Identification of mutations in the CHST6 gene in 15 patients from 11 unrelated families affected with recessive macular corneal dystrophy (MCD). METHODS Genomic DNA was extracted from peripheral blood leukocytes of the affected patients and their healthy family members, and the mutational status of the CHST6 gene was determined for each patient by a PCR-sequencing approach. Serum conc...

2015
Shin Hae Park Ye Jin Ahn Hyojin Chae Yonggoo Kim Man Soo Kim Myungshin Kim

PURPOSE To identify the underlying genetic defect in Korean patients with macular corneal dystrophy (MCD). METHODS Genomic DNA was isolated from peripheral blood leukocytes of seven patients from six unrelated families with MCD (three men and four women). Polymerase chain reaction was performed for coding regions of the carbohydrate sulfotransferase (CHST6), gene followed by bidirectional seq...

Journal: :Molecular Vision 2009
Xiuhong Dang Qingguo Zhu Li Wang Hong Su Hui Lin Nan Zhou Ting Liang Zheng Wang Shangzhi Huang Qiushi Ren Yanhua Qi

PURPOSE To identify mutations in the carbohydrate sulfotransferase gene (CHST6) for a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes in the affected cornea. METHODS A corneal button of the proband was obtained by penetrating keratoplasty. The half button and ultrathin sections from the other half button were examined with special stains un...

Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6) gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP) is another eye disorder with nyctalopia as its common symptom. It has been shown that more than 65 genes have been implica...

Journal: :The Biochemical journal 2008
Sophie Groux-Degroote Marie-Ange Krzewinski-Recchi Aurélie Cazet Audrey Vincent Sylvain Lehoux Jean-Jacques Lafitte Isabelle Van Seuningen Philippe Delannoy

Bronchial mucins from patients suffering from CF (cystic fibrosis) exhibit glycosylation alterations, especially increased amounts of the sialyl-Lewis(x) (NeuAcalpha2-3Galbeta1-4[Fucalpha1-3]GlcNAc-R) and 6-sulfo-sialyl-Lewis(x) (NeuAcalpha2-3Galbeta1-4[Fucalpha1-3][SO(3)H-6]GlcNAc-R) terminal structures. These epitopes are preferential receptors for Pseudomonas aeruginosa, the bacteria respons...

2016
Fulya Yaylacioglu Tuncay Gülsüm Kayman Kurekci Sezen Guntekin Ergun Ozge Tugce Pasaoglu Rustu Fikret Akata Pervin Rukiye Dincer

PURPOSE To identify pathogenic variations in carbohydrate sulfotransferase 6 (CHST6) and transforming growth factor, beta-induced (TGFBI) genes in Turkish patients with corneal dystrophy (CD). METHODS In this study, patients with macular corneal dystrophy (MCD; n = 18), granular corneal dystrophy type 1 (GCD1; n = 12), and lattice corneal dystrophy type 1 (LCD1; n = 4), as well as 50 healthy ...

Journal: :The Journal of biological chemistry 2000
S Bhakta A Bartes K G Bowman W M Kao I Polsky J K Lee B N Cook R E Bruehl S D Rosen C R Bertozzi S Hemmerich

Based on sequence homology with a previously cloned human GlcNAc 6-O-sulfotransferase, we have identified an open reading frame (ORF) encoding a novel member of the Gal/GalNAc/GlcNAc 6-O-sulfotransferase (GST) family termed GST-5 on the human X chromosome (band Xp11). GST-5 has recently been characterized as a novel GalNAc 6-O-sulfotransferase termed chondroitin 6-sulfotransferase-2 (Kitagawa, ...

Journal: :The Journal of biological chemistry 2003
Robert J Bink Hiroko Habuchi Zsolt Lele Edward Dolk Jos Joore Gerd-Jörg Rauch Robert Geisler Stephen W Wilson Jeroen den Hertog Koji Kimata Danica Zivkovic

Heparan sulfate proteoglycans function in development and disease. They consist of a core protein with attached heparan sulfate chains that are altered by a series of carbohydrate-modifying enzymes and sulfotransferases. Here, we report on the identification and characterization of a gene encoding zebrafish heparan sulfate 6-O-sulfotransferase (hs6st) that shows high homology to other heparan s...

Journal: :Angewandte Chemie 2000
Armstrong Portley Chang Nierengarten Cook Bowman Bishop Gray Shokat Schultz Bertozzi

Carbohydrate sulfotransferases have recently emerged as an important and relatively unexplored class of therapeutic targets.[1] For example, the seminal discovery that sulfated sialyl LewisX mediates the adhesion of leukocytes to inflamed endothelium established carbohydrate sulfotransferases as potential targets for anti-inflammatory therapy.[2] Ongoing genome sequencing projects have uncovere...

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