| 1 | ATCS, CHST14, DCN |
| Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. | |
| Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N. | |
| Hum Mutat 31(8):966-74.PMID: 20533528 2010 | |
| 2 | ATCS, CHST14 |
| Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. | |
| Dündar M, Müller T, Zhang Q, Pan J, Steinmann B, Vodopiutz J, Gruber R, Sonoda T, Krabichler B, Utermann G, Baenziger JU, Zhang L, Janecke AR. | |
| Am J Hum Genet 85(6):873-82.PMID: 2000476 2009 | |
| 3 | CHST14 |
| Specificities of three distinct human chondroitin/dermatan N-acetylgalactosamine 4-O-sulfotransferases demonstrated using partially desulfated dermatan sulfate as an acceptor: implication of differential roles in dermatan sulfate biosynthesis. | |
| Mikami T, Mizumoto S, Kago N, Kitagawa H, Sugahara K. | |
| J Biol Chem 278(38):36115-27. Epub 2003 Jul 7.PMID: 12847091 2003 | |
| 4 | CHST14 |
| Molecular cloning and characterization of a dermatan-specific N-acetylgalactosamine 4-O-sulfotransferase. | |
| Evers MR, Xia G, Kang HG, Schachner M, Baenziger JU. | |
| J Biol Chem 276(39):36344-53. 2001 | |