Genomes and Genes
Gene Symbol: CHST6
Description: carbohydrate sulfotransferase 6
Alias: MCDC1, carbohydrate sulfotransferase 6, C-GlcNAc6ST, GST4-beta, N-acetylglucosamine 6-O-sulfotransferase 5, N-acetylglucosamine 6-sulfotransferase, carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6, corneal N-acetylglucosamine 6-sulfotransferase, corneal N-acetylglucosamine-6-O-sulfotransferase, galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 4-beta, glcNAc6ST-5, gn6st-5, hCGn6ST
- Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneityNobuko Iida-Hasegawa
Department of Ophthalmology, School of Medicine, Juntendo University, Tokyo, Japan
Invest Ophthalmol Vis Sci 44:3272-7. 2003..The carbohydrate sulfotransferase 6 (CHST6) gene, which encodes the corneal N-acetylglucosamine 6-O-sulfotransferase on 16q22 has been ..
- CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic reviewGordon K Klintworth
Department of Pathology, Duke University Medical Center, Durham, NC 27710, USA
Mol Vis 12:159-76. 2006To evaluate mutations in the carbohydrate sulfotransferase-6 (CHST6) gene in American subjects with macular corneal dystrophy (MCD).
- Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in IcelandNing pu Liu
Beijing Tongren Eye Center, Capital University of Medical Sciences, Beijing, China
Mol Vis 12:1148-52. 2006To identify CHST6 mutations in five additional Icelandic cases of macular corneal dystrophy (MCD) type I and in four families with MCD type II from Iceland.
- Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutationP Liskova
Division of Molecular Genetics, Institute of Ophthalmology, University College London, 11 43 Bath Street, London EC1V 9EL, UK
Br J Ophthalmol 92:265-7. 2008To characterise the role of the carbohydrate sulfotransferase gene (CHST6) in macular corneal dystrophy (MCD) in Czech patients.
- Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophyA Sultana
Kallam Anji Reddy Molecular Genetics Laboratory, L V Prasad Eye Institute, L V Prasad Marg, Banjara Hills, Hyderabad, India
Clin Genet 68:454-60. 2005..It is caused by mutations in the carbohydrate sulfotransferase-6 (CHST6) gene, which codes for the enzyme corneal N-acetylglucosamine-6-sulfotransferase...
- Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibshipNing pu Liu
Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710, USA
Am J Ophthalmol 139:1118-20. 2005The aim of this study was to examine the carbohydrate sulfotransferase 6 (CHST6) gene for mutations in a sibship with both macular corneal dystrophy (MCD) types I and II.
- Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic optionsClaudia Gruenauer-Kloevekorn
Department of Ophthalmology, Martin Luther University Halle, Ernst Grube Str 40, 06097 Halle, Germany
Graefes Arch Clin Exp Ophthalmol 246:1441-7. 2008..The objective of this study was to investigate genotype-phenotype correlations, the consequences for surgical treatment, and the therapeutical options in patients with macular corneal dystrophy (MCD)...
- Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophyMohamed F El-Ashry
Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
Am J Ophthalmol 139:192-3. 2005To identify the underlying mutations in two unrelated British families with macular corneal dystrophy (MCD) by screening the carbohydrate sulfotransferase (CHST6) gene.
- Macular corneal dystrophy in a Chinese family related with novel mutations of CHST6Xiuhong Dang
Department of Ophthalmology, The Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, China
Mol Vis 15:700-5. 2009To 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.
- Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophyAnthony J Aldave
Cornea Service, The Jules Stein Eye Institute, University of California, Los Angeles, California 90095, USA
Am J Ophthalmol 137:465-73. 2004To further characterize the mutations within the CHST6 gene responsible for causing macular corneal dystrophy in a cohort of affected patients from the United States.
- Novel mutations in the CHST6 gene causing macular corneal dystrophyC Abbruzzese
Laboratory of Tissue Engineering I D I, Istituto Dermopatico dell Immacolata, Rome, Italy
Clin Genet 65:120-5. 2004..characterized by corneal opacities and caused by mutations in a carbohydrate sulfotransferase gene, known as CHST6. MCD type I patients show missense mutations in the CHST6-coding region, and MCD type II patients show a large ..
- Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in IndiaAfia Sultana
Kallam Anji Reddy Molecular Genetics Laboratory, Professor Brien Holden Eye Research Centre, Hyderabad 500 034, India
Mol Vis 9:730-4. 2003..It is caused by mutations in the carbohydrate sulfotransferase-6 (CHST6) gene, encoding corneal N-acetyl glucosamine-6-O-sulfotransferase (C-GlcNAc-6-ST)...
- Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern IndiaJohn F Warren
Francis I Proctor Foundation and the Department of Ophthalmology, University of California San Francisco, 94143 0944, USA
Arch Ophthalmol 121:1608-12. 2003To further characterize the role of the carbohydrate sulfotransferase (CHST6) gene in macular corneal dystrophy (MCD) through identification of causative mutations in a cohort of affected patients from southern India.
- Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generationsNguyen Thanh Ha
Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
Cornea 22:508-11. 2003..To report the clinical and genetic findings of Vietnamese families affected with macular corneal dystrophy (MCD) in 2 generations...
- Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophyNguyen Thanh Ha
Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan
Invest Ophthalmol Vis Sci 44:3310-6. 2003Mutations in a new carbohydrate sulfotransferase gene (CHST6) encoding corneal N-acetylglucosamine-6-sulfotransferase (C-GlcNac-6-ST) have been identified as the cause of macular corneal dystrophy (MCD) in various ethnicities...
- Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophyFlorence Niel
Laboratory of Biochemistry and Molecular Genetics, Hospital, Cochin, Paris, France
Invest Ophthalmol Vis Sci 44:2949-53. 2003Identification of mutations in the CHST6 gene in 15 patients from 11 unrelated families affected with recessive macular corneal dystrophy (MCD).
- Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophyMohamed F El-Ashry
Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
Invest Ophthalmol Vis Sci 43:377-82. 2002..Recently, mutations in a new carbohydrate sulfotransferase gene (CHST6) encoding corneal glucosamine N-acetyl-6-sulfotransferase (C-GlcNac-6-ST) have been identified as the cause of MCD...
- Sulfation of endothelial mucin by corneal keratan N-acetylglucosamine 6-O-sulfotransferase (GST-4beta)A Bartes
Department of Respiratory Diseases, Roche Bioscience, 3401 Hillview Avenue, Palo Alto, California 94304, USA
Biochem Biophys Res Commun 282:928-33. 2001..While I-GlcNAc6T is expressed mostly in intestinal tissue, larger C-GlcNAc6ST transcripts are found predominantly in the brain...
- Human corneal GlcNac 6-O-sulfotransferase and mouse intestinal GlcNac 6-O-sulfotransferase both produce keratan sulfateT O Akama
Glycobiology Program, The Burnham Institute, La Jolla, California 92037, USA
J Biol Chem 276:16271-8. 2001Human corneal N-acetylglucosamine 6-O-sulfotransferase (hCGn6ST) has been identified by the positional candidate approach as the gene responsible for macular corneal dystrophy (MCD)...
- Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in IcelandN P Liu
Department of Ophthalmology and Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Mol Vis 6:261-4. 2000..Recently, mutations in the carbohydrate sulfotransferase 6 gene (CHST6) were identified to cause MCD...
- Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase geneT O Akama
Glycobiology Program, The Burnham Institute, La Jolla, California, USA
Nat Genet 26:237-41. 2000..Here we identify a new carbohydrate sulphotransferase gene (CHST6), encoding an enzyme designated corneal N-acetylglucosamine-6-sulphotransferase (C-GlcNAc6ST), within the critical ..
- Linkage of a gene for macular corneal dystrophy to chromosome 16J M Vance
Department of Medicine, Division of Neurology, Duke University Medical Center, Durham, North Carolina 27710 2900, USA
Am J Hum Genet 58:757-62. 1996..50 at a recombination fraction of .00 was obtained for the MCD type II families, by use of the identical marker. These findings raise the possibility that MCD type II may be due to the same genetic locus that is involved in MCD type I...
- Phenotype and genotype analysis in patients with macular corneal dystrophyAnna K Nowińska
II Ophthalmology Clinic, Silesian Medical University, Katowice, Poland
Br J Ophthalmol 98:1514-21. 2014The aim of this study was to analyse corneal morphological organisation and identify mutations in the carbohydrate sulfotransferase 6 gene (CHST6) in patients with macular corneal dystrophy originating in a Polish population.
- Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: Five novel variations in CHST6Fulya Yaylacıoğlu Tuncay
Polatlı Duatepe State Hospital, Ophthalmology Department, Ankara Turkey Hacettepe Faculty of Medicine, Medical Biology Department, Ankara, Turkey
Mol Vis 22:1267-1279. 2016To identify pathogenic variations in carbohydrate sulfotransferase 6 (CHST6) and transforming growth factor, beta-induced (TGFBI) genes in Turkish patients with corneal dystrophy (CD).
- A role for topographic cues in the organization of collagenous matrix by corneal fibroblasts and stem cellsDimitrios Karamichos
Schepens Eye Research Institute Massachusetts Eye and Ear and Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States of America
PLoS ONE 9:e86260. 2014..4 weeks in culture, both cell types upregulated expression of genes marking differentiated keratocytes (KERA, CHST6, AQP1, B3GNT7)...
- TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophiesJohanna Gonzalez-Rodriguez
Department of Genetics Research Unit, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico
Graefes Arch Clin Exp Ophthalmol 252:1267-72. 2014The purpose of our study was to describe the results of molecular screening of TGFBI, CHST6, and GSN genes in a group of Mexican patients with different stromal corneal dystrophies (CD).
- Macular corneal dystrophy and associated corneal thinningL Dudakova
Laboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic
Eye (Lond) 28:1201-5. 2014..To identify the molecular genetic cause of macular corneal dystrophy (MCD) in four probands, and characterize phenotypic similarities between MCD and keratoconus...
- A Carbohydrate Sulfotransferase-6 (CHST6) gene mutation is associated with Macular Corneal Dystrophy in Labrador RetrieversRoser Tetas Pont
Comparative Ophthalmology Unit, Animal Health Trust, Lanwades Park, Kentford, CB8 7UU, UK
Vet Ophthalmol 19:488-492. 2016To locate and identify variants associated with macular corneal dystrophy (MCD) in Labrador Retriever (LR) dogs, in the candidate gene carbohydrate sulfotransferase-6 (CHST6).
- Molecular analysis of the CHST6 gene in Korean patients with macular corneal dystrophy: Identification of three novel mutationsShin Hae Park
Department of Ophthalmology and Visual Science, College of Medicine, Seoul St Mary s Hospital, The Catholic University of Korea, Seoul, Republic of Korea
Mol Vis 21:1201-9. 2015..To identify the underlying genetic defect in Korean patients with macular corneal dystrophy (MCD)...
- Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African familyNadia Carstens
Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, 2050, Johannesburg, Gauteng, South Africa
BMC Med Genet 17:47. 2016..The aim of this study was to identify the cause of MCD in a black South African family with two affected sisters...
- Focus on molecules: CHST6 (carbohydrate sulfotransferase 6; corneal N-acetylglucosamine-6-sulfotransferase)Kurt Musselmann
Department of Biochemistry and Molecular Biology, University of South Florida College of Medicine, Tampa, 33612, USA
Exp Eye Res 83:707-8. 2006
- TGFBI and CHST6 gene analysis in Chinese stromal corneal dystrophiesYin Li
Department of Ophthalmology, Central Hospital of Enshi Autonomous Prefecture, Enshi Autonomous Prefecture 445000, Hubei Province, China
Int J Ophthalmol 5:301-6. 2012To investigate whether mutations in TGFBI gene or CHST6 gene correlated with stromal corneal dystrophies (CD) in 8 Chinese probands.
- Apple flavonoids inhibit growth of HT29 human colon cancer cells and modulate expression of genes involved in the biotransformation of xenobioticsSelvaraju Veeriah
Department of Nutritional Toxicology, Institute for Nutrition, Friedrich Schiller University, Jena, Germany
Mol Carcinog 45:164-74. 2006..Treatment with AE resulted in an upregulation of several genes (GSTP1, GSSTT2, MGST2, CYCP4F3, CHST5, CHST6, and CHST7) and downregulation of EPHX1, in comparison to the medium controls...
- Sulfation of keratan sulfate proteoglycan reduces radiation-induced apoptosis in human Burkitt's lymphoma cell linesFumiaki Nakayama
Advanced Radiation Biology Research Program, Research Center for Charged Particle Therapy, National Institute of Radiological Sciences, Chiba, Japan
FEBS Lett 587:231-7. 2013..In addition, the repression of all three N-acetylglucosamine-6-O-sulfotransferases (CHST2, CHST6, and CHST7) increased apoptosis...
- [Macular corneal dystrophy--clinical state, histopathologic, immunohistochemical examinations and genetical dependence]Ewa Mrukwa-Kominek
Kliniki Okulistyki Slaskiej Akademii Medycznej w Katowicach
Klin Oczna 106:802-5. 2004..As in other inherited diseases, the latest achievement of molecular biology, concerning the new mutation of the CHST6 gene, changed the classification of the macular corneal dystrophy, and can have the significant influence on ..
- Bioengineering organized, multilamellar human corneal stromal tissue by growth factor supplementation on highly aligned synthetic substratesJian Wu
Department of Surgery, McGowan Institute for Regenerative Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15204, USA
Tissue Eng Part A 19:2063-75. 2013..into keratocytes with significant upregulation of the typical gene markers, including KERA, B3GnT7, and CHST6. FGF-2 treatment stimulated hCSSCs to secrete collagen fibrils strongly aligned in a single direction, whereas TGF-..
- A case of Korean patient with macular corneal dystrophy associated with novel mutation in the CHST6 geneYou Kyung Lee
Department of Ophthalmology, The Catholic University of Korea College of Medicine, Seoul, Korea
Korean J Ophthalmol 27:454-8. 2013To report a novel mutation within the CHST6 gene, as well as describe light and electron microscopic features of a case of macular corneal dystrophy...
- Molecular genetic analysis of macular corneal dystrophy patients from North IndiaPreeti Paliwal
Laboratory of Cyto Molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India
Ophthalmic Res 48:28-32. 2012To identify underlying genetic defects in the carbohydrate sulfotransferase-6 (CHST6) gene in North Indian patients with macular corneal dystrophy (MCD).
- Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfateTomoya O Akama
Glycobiology Program, The Burnham Institute, La Jolla, California 92037, USA
J Biol Chem 277:42505-13. 2002Among the enzymes of the carbohydrate sulfotransferase family, human corneal GlcNAc 6-O-sulfotransferase (hCGn6ST, also known as human GlcNAc6ST-5/GST4beta) and human intestinal GlcNAc 6-O-sulfotransferase (hIGn6ST or human GlcNAc6ST-3/..
- Novel CHST6 gene mutations in 2 unrelated cases of macular corneal dystrophyDhara A Patel
Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
Cornea 30:664-9. 2011To investigate the possible mutations in the carbohydrate sulfotransferase 6 (CHST6) gene of 2 unrelated cases of macular corneal dystrophy (MCD) and to report atypical stromal deposits in one of them.
- Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino, lattice, and macular corneal dystrophiesYa nan Huo
Department of Ophthalmology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, China
J Zhejiang Univ Sci B 12:687-93. 2011..To investigate gene mutations associated with three different types of corneal dystrophies (CDs), and to establish a phenotype-genotype correlation...
- The molecular genetics of the corneal dystrophies--current statusGordon K Klintworth
Department of Pathology, Duke University Medical Center, Durham, North Carolina 27710, USA
Front Biosci 8:d687-713. 2003..Mutations in nine genes (ARSC1, CHST6, COL8A2, GLA, GSN, KRT3, KRT12, M1S1and TGFBI [BIGH3]) account for some of the corneal diseases and three of them ..
- Central discoid corneal dystrophyAnthony J Aldave
Jules Stein Eye Institute, University of California Los Angeles, Los Angeles, California 90095, USA
Cornea 21:739-44. 2002..To present a small kindred with a unique dominantly inherited corneal stromal dystrophy...
- Localization and expression of CHST6 and keratan sulfate proteoglycans in the human corneaEnzo Di Iorio
The Veneto Eye Bank Foundation, Via Paccagnella 11, c o Padiglione Giovanni Rama, 30174 Zelarino Venice, Italy
Exp Eye Res 91:293-9. 2010..MCD; OMIM 217800) is a rare autosomal recessive inherited disorder caused by mutations in the carbohydrate sulfotransferase 6 (CHST6) and characterised by the presence of unsulfated keratan sulfate proteoglycans (KSPGs) forming ..
- Chromosomal localization and genomic organization for the galactose/ N-acetylgalactosamine/N-acetylglucosamine 6-O-sulfotransferase gene familyS Hemmerich
Department of Respiratory Diseases, Roche Bioscience, Palo Alto, CA 94304, USA
Glycobiology 11:75-87. 2001..5'UTRs of the same enzyme expressed in different cell types are sometimes derived from different exons located upstream of the ORF. The genomic organization of the GSTs resembles that of certain glycosyltransferase gene families...
- Sulfation of the N-linked oligosaccharides of influenza virus hemagglutinin: temporal relationships and localization of sulfotransferasesM J Spiro
Elliott P Joslin Research Laboratory, Joslin Diabetes Center and the Department of Medicine, Harvard Medical School, Boston, MA 02215, USA
Glycobiology 10:1235-42. 2000....
- Diversity of N-acetylglucosamine-6-O-sulfotransferases: molecular cloning of a novel enzyme with different distribution and specificitiesK Uchimura
Department of Biochemistry, Nagoya University School of Medicine, 65 Tsurumai Cho, Showa Ku, Nagoya, 466 8550, Japan
Biochem Biophys Res Commun 274:291-6. 2000..The distribution and the specificity of GlcNAc6ST are different from those of GlcNAc6STs identified previously...
- Complex-type N-linked oligosaccharides of gp120 from human immunodeficiency virus type 1 contain sulfated N-acetylglucosamineA Shilatifard
Department of Biochemistry and Molecular Biology, University of Oklahoma Health Science Center, Oklahoma City 73104
J Virol 67:943-52. 1993..Charge analysis of the [3H]galactose- and [3H]glucosamine-labeled glycopeptides from gp120 and gp160 indicates that approximately 14% of the complex-type N-linked oligosaccharides are sulfated...
- Sulfation of the human immunodeficiency virus envelope glycoproteinH B Bernstein
Department of Microbiology, University of Alabama, Birmingham 35294
J Virol 66:6953-9. 1992..Sulfation is a major determinant of negative charge and could play a role in biological functions and antigenic properties of HIV glycoproteins...
- Mutation analysis of CHST6 gene in Chinese patients with macular corneal dystrophyZuguo Liu
Eye Institute, The Xiamen University Medical College, Xiamen, Fujian, China
Cornea 29:883-8. 2010To examine the carbohydrate sulfotransferase 6 (CHST6) gene in Chinese patients with macular corneal dystrophy (MCD).
- [Corneal macular dystrophy: clinical, histopathologic and ultrastructural features]R Gulias-Cañizo
Servicio de Patología Oftálmica, Asociacion para Evitar la Ceguera en Mexico, I A P, Hospital Dr Luis Sanchez Bulnes, Mexico
Arch Soc Esp Oftalmol 81:315-20. 2006..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...
- [Novel CHST6 compound heterozygous mutations cause macular corneal dystrophy in a Chinese family]Yan hua Qi
Department of Ophthalmology, Second Affiliated Hospital of Harbin Medicine University, Harbin 150086, China
Zhonghua Yan Ke Za Zhi 46:161-5. 2010The aim of this study was to identify mutations of CHST6 gene in a Chinese family with macular corneal dystrophy (MCD) and to investigate the histopathological changes of MCD.
- Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjectsZari Dastani
Cardiovascular Genetics Laboratory, McGill University Health Centre, Royal Victoria Hospital, Montreal, Quebec, Canada
Eur J Hum Genet 18:342-7. 2010..The coding regions of all genes within this region were sequenced. A missense variant in CHST6 segregated in four families and, with additional families, we observed a P value of 0.015 for this variant...
- Molecular genetic study of Egyptian patients with macular corneal dystrophyMohamed F El-Ashry
Department of Molecular Genetics, Institute of Ophthalmology, 11 43 Bath Street, London EC1V 9EL, UK
Br J Ophthalmol 94:250-5. 2010..To identify the underlying genetic defect in Egyptian patients with macular corneal dystrophy (MCD)...
- The stem region of the sulfotransferase GlcNAc6ST-1 is a determinant of substrate specificityChristopher L de Graffenried
Department of Chemistry, University of California, Berkeley, California 94720, USA
J Biol Chem 279:40035-43. 2004..Collectively, these results indicate that the stem region of GlcNAc6ST-1 influences substrate specificity, independent of its role in dimerization or Golgi retention...
- Corneal dystrophiesGordon K Klintworth
Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA
Orphanet J Rare Dis 4:7. 2009..Different corneal dystrophies are caused by mutations in the CHST6, KRT3, KRT12, PIP5K3, SLC4A11, TACSTD2, TGFBI, and UBIAD1 genes...
- Novel mutations of CHST6 in Iranian patients with macular corneal dystrophyShiva Akbari Birgani
Department of Biology, University of Guilan Medical Science, Rasht, Iran
Mol Vis 15:373-7. 2009To characterize mutations within the carbohydrate sulfotransferase 6 (CHST6) gene in Iranian subjects from 12 families with macular corneal dystrophy (MCD).
- Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6Afia Sultana
Kallam Anji Reddy Molecular Genetics Laboratory, Hyderabad Eye Research Foundation, L V Prasad Eye Institute, Hyderabad, India
Mol Vis 15:319-25. 2009To determine the immunophenotypes of macular corneal dystrophy (MCD) in Indian patients and to correlate them with mutations in the carbohydrate 6-sulfotransferase (CHST6) gene.
- Significance of NF-kappaB/GATA axis in tumor necrosis factor-alpha-induced expression of 6-sulfated cell recognition glycans in human T-lymphocytesGuo Yun Chen
Department of Molecular Pathology, Aichi Cancer Center, Nagoya 464 8681, Japan
J Biol Chem 283:34563-70. 2008..In line with this, in vitro differentiation of human T cells to Th2 cells was found to significantly induce GlcNAc6ST-1 transcription and 6-sulfated glycan expression...
- Human drug metabolism genes in parathion-and estrogen-treated breast cellsG M Calaf
Instituto de Alta Investigación, Universidad de Tarapaca, Calle Antofagasta 1520, Arica, Chile
Int J Mol Med 20:875-81. 2007..Among the genes altered by parathion in comparison to the control were CHST5, CHST6 and CHST7 (sulfotransferases); CYP2F1, CYP3A7 and CYP4F3 (CYPs); GSTP1, GSTT2 and MGST1 (GSTs); MT1X (..
- IL-6 and IL-8 increase the expression of glycosyltransferases and sulfotransferases involved in the biosynthesis of sialylated and/or sulfated Lewisx epitopes in the human bronchial mucosaSophie Groux-Degroote
Unite de Glycobiologie Structurale et Fonctionnelle, UMR CNRS no 8576, Batiment C9, Universite des Sciences et Technologies de Lille, F 59655 Villeneuve d Ascq, Lille, France
Biochem J 410:213-23. 2008..2 gene)] and GlcNAc-6-O-sulfotransferases [CHST4 (carbohydrate sulfotransferase 4 gene) and CHST6] mRNA...
- An unusual presentation of macular corneal dystrophy associated with uniparental isodisomy and a novel Leu173Pro mutationVivek S Yellore
Cornea Service, Jules Stein Eye Institute, David Geffen School of Medicine at UCLA, Los Angeles, California 90095, USA
Ophthalmic Genet 28:169-74. 2007To report an unusual phenotype of macular corneal dystrophy (MCDC1) associated with a novel CHST6 mutation transmitted via maternal isodisomy.
- In vivo laser confocal microscopic findings of corneal stromal dystrophiesAkira Kobayashi
Department of Ophthalmology, Kanazawa University Graduate School of Medical Science, 13 1 Takara machi, Kanazawa shi, Ishikawa ken 920 8641, Japan
Arch Ophthalmol 125:1168-73. 2007..To investigate in vivo laser confocal microscopic findings of genetically mapped corneal stromal dystrophies and their relationship to histopathologic findings...
- Differential immunogold localisation of sulphated and unsulphated keratan sulphate proteoglycans in normal and macular dystrophy cornea using sulphation motif-specific antibodiesRobert D Young
Structural Biophysics Group, School of Optometry and Vision Sciences, Cardiff University, Redwood Building, King Edward VII Avenue, Cardiff, CF10 3NB Wales, UK
Histochem Cell Biol 127:115-20. 2007..MCD is caused by mutations in CHST6, a gene encoding the enzyme responsible for KS sulphation...
- Macular Corneal Dystrophy-Molecular PathobiologyGordon Klintworth; Fiscal Year: 2005The proposed research is part of an ongoing study of macular corneal dystrophy (MCD) and the CHST6 gene. We will maintain and expand a computerized registry and genealogical database of individuals with MCD for relevant studies...