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Journal Abstract Search
665 related items for PubMed ID: 16583246
1. Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7). Seidler DG, Faiyaz-Ul-Haque M, Hansen U, Yip GW, Zaidi SH, Teebi AS, Kiesel L, Götte M. J Mol Med (Berl); 2006 Jul; 84(7):583-94. PubMed ID: 16583246 [Abstract] [Full Text] [Related]
2. Defective glycosaminoglycan substitution of decorin in a patient with progeroid syndrome is a direct consequence of two point mutations in the galactosyltransferase I (beta4GalT-7) gene. Götte M, Kresse H. Biochem Genet; 2005 Feb; 43(1-2):65-77. PubMed ID: 15859521 [Abstract] [Full Text] [Related]
3. Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome. Götte M, Spillmann D, Yip GW, Versteeg E, Echtermeyer FG, van Kuppevelt TH, Kiesel L. Hum Mol Genet; 2008 Apr 01; 17(7):996-1009. PubMed ID: 18158310 [Abstract] [Full Text] [Related]
4. 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; 2010 Aug 01; 31(8):966-74. PubMed ID: 20533528 [Abstract] [Full Text] [Related]
5. Phenotypic effects of biglycan deficiency are linked to collagen fibril abnormalities, are synergized by decorin deficiency, and mimic Ehlers-Danlos-like changes in bone and other connective tissues. Corsi A, Xu T, Chen XD, Boyde A, Liang J, Mankani M, Sommer B, Iozzo RV, Eichstetter I, Robey PG, Bianco P, Young MF. J Bone Miner Res; 2002 Jul 01; 17(7):1180-9. PubMed ID: 12102052 [Abstract] [Full Text] [Related]
6. Glycan profiling of a defect in decorin glycosylation in equine systemic proteoglycan accumulation, a potential model of progeroid form of Ehlers-Danlos syndrome. Kim B, Yoon JH, Zhang J, Eric Mueller PO, Halper J. Arch Biochem Biophys; 2010 Sep 15; 501(2):221-31. PubMed ID: 20599673 [Abstract] [Full Text] [Related]
7. Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST14. Hirose T, Takahashi N, Tangkawattana P, Minaguchi J, Mizumoto S, Yamada S, Miyake N, Hayashi S, Hatamochi A, Nakayama J, Yamaguchi T, Hashimoto A, Nomura Y, Takehana K, Kosho T, Watanabe T. Biochim Biophys Acta Gen Subj; 2019 Mar 15; 1863(3):623-631. PubMed ID: 30553867 [Abstract] [Full Text] [Related]
8. The glycosaminoglycan chain of decorin plays an important role in collagen fibril formation at the early stages of fibrillogenesis. Rühland C, Schönherr E, Robenek H, Hansen U, Iozzo RV, Bruckner P, Seidler DG. FEBS J; 2007 Aug 15; 274(16):4246-55. PubMed ID: 17651433 [Abstract] [Full Text] [Related]
9. Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature. Guo MH, Stoler J, Lui J, Nilsson O, Bianchi DW, Hirschhorn JN, Dauber A. Am J Med Genet A; 2013 Oct 15; 161A(10):2519-27. PubMed ID: 23956117 [Abstract] [Full Text] [Related]
10. Deficiency of the decorin core protein in the variant form of Ehlers-Danlos syndrome with chronic skin ulcer. Wu J, Utani A, Endo H, Shinkai H. J Dermatol Sci; 2001 Oct 15; 27(2):95-103. PubMed ID: 11532373 [Abstract] [Full Text] [Related]
12. Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder. Malfait F, Kariminejad A, Van Damme T, Gauche C, Syx D, Merhi-Soussi F, Gulberti S, Symoens S, Vanhauwaert S, Willaert A, Bozorgmehr B, Kariminejad MH, Ebrahimiadib N, Hausser I, Huysseune A, Fournel-Gigleux S, De Paepe A. Am J Hum Genet; 2013 Jun 06; 92(6):935-45. PubMed ID: 23664118 [Abstract] [Full Text] [Related]
13. Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities. Miyake N, Kosho T, Matsumoto N. Adv Exp Med Biol; 2014 Jun 06; 802():145-59. PubMed ID: 24443026 [Abstract] [Full Text] [Related]
15. Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis. Syx D, Van Damme T, Symoens S, Maiburg MC, van de Laar I, Morton J, Suri M, Del Campo M, Hausser I, Hermanns-Lê T, De Paepe A, Malfait F. Hum Mutat; 2015 May 06; 36(5):535-47. PubMed ID: 25703627 [Abstract] [Full Text] [Related]