Citations for
1B3GNT7, B4GALT5, CHST1, CHST5, CHST6
Enzymes responsible for synthesis of corneal keratan sulfate glycosaminoglycans.
Kitayama K, Hayashida Y, Nishida K, Akama TO.
J Biol Chem 282(41):30085-96. Epub 2007 Aug 9. 2007
2CHST6
Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland.
Liu NP, Smith CF, Bowling BL, Jonasson F, Klintworth GK.
Mol Vis 12:1148-52. 2006
3CHST6, MCDC1
CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review.
Klintworth GK, Smith CF, Bowling BL.
Mol Vis 12:159-76. 2006
4CHST6, MCDC1
Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy.
Sultana A, Sridhar MS, Klintworth GK, Balasubramanian D, Kannabiran C.
Clin Genet 68(5):454-60. 2005
5CHST6, MCDC1
Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.
El-Ashry MF, Abd El-Aziz MM, Shalaby O, Wilkins S, Poopalasundaram S, Cheetham M, Tuft SJ, Hardcastle AJ, Bhattacharya SS, Ebenezer ND.
Am J Ophthalmol 139(1):192-3. 2005
6CHST6, MCDC1
Novel mutations in the CHST6 gene causing macular corneal dystrophy.
Abbruzzese C, Kuhn U, Molina F, Rama P, De Luca M.
Clin Genet 65(2):120-5. 2004
7CHST6, MCDC1
Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity.
Iida-Hasegawa N, Furuhata A, Hayatsu H, Murakami A, Fujiki K, Nakayasu K, Kanai A.
Invest Ophthalmol Vis Sci 44(8):3272-7. 2003
8MCDC1, CHST6
Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India.
Warren JF, Aldave AJ, Srinivasan M, Thonar EJ, Kumar AB, Cevallos V, Whitcher JP, Margolis TP.
Arch Ophthalmol 121(11):1608-12. 2003
9CHST6, COL8A2, GLA, GSN, KRT12, KRT3, M1S1, STS, TGFBI
The molecular genetics of the corneal dystrophies--current status.
Klintworth GK.
Front Biosci 8:d687-713. Review. 2003
10CHST6, MCDC1
Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.
El-Ashry MF, El-Aziz MM, Wilkins S, Cheetham ME, Wilkie SE, Hardcastle AJ, Halford S, Bayoumi AY, Ficker LA, Tuft S, Bhattacharya SS, Ebenezer ND.
Invest Ophthalmol Vis Sci 43(2):377-82. 2002
11CHST4, CHST6
Chromosomal localization and genomic organization for the galactose/ N-acetylgalactosamine/N-acetylglucosamine 6-O-sulfotransferase gene family.
Hemmerich S, Lee JK, Bhakta S, Bistrup A, Ruddle NR, Rosen SD.
Glycobiology 11(1):75-87. 2001
12CHST5, CHST6, MCDC1
Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene.
Akama TO, Nishida K, Nakayama J, Watanabe H, Ozaki K, Nakamura T, Dota A, Kawasaki S, Inoue Y, Maeda N, Yamamoto S, Fujiwara T, Thonar EJ, Shimomura Y, Kinoshita S, Tanigami A, Fukuda MN.
Nat Genet 26(2):237-41. 2000