Journal ArticleDOI
Absence of normal keratan sulfate in the blood of patients with macular corneal dystrophy.
Eugene J.-M.A. Thonar,Roger F. Meyer,Richard F. Dennis,Mary Ellen Lenz,Brian A. Maldonado,John R. Hassell,A. Tyl Hewitt,Walter J. Stark,E. Lee Stock,Klaus E. Kuettner,Gordon K. Klintworth +10 more
TLDR
Sulfated keratan sulfate was not detected in the serum of 16 patients with macular corneal dystrophy, but was present at normal levels in 66 patients with other cornea diseases, and this assay should prove useful in the diagnosis of macular Corneal Dystrophy.About:Â
This article is published in American Journal of Ophthalmology.The article was published on 1986-11-01. It has received 61 citations till now. The article focuses on the topics: Macular corneal dystrophy & Keratan sulfate.read more
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Survival of recombinant erythropoietin in the circulation: the role of carbohydrates.
TL;DR: The results suggest that the sialic acid of the recombinant erythropoietin is necessary for this glycoprotein hormone to circulate stably and glycoproteins with more than three lactosaminyl repeat units may be cleared by the galactose binding protein of hepatocytes.
Journal ArticleDOI
Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene.
Tomoya O. Akama,Kohji Nishida,Kohji Nishida,Jun Nakayama,Jun Nakayama,Hitoshi Watanabe,Kouichi Ozaki,Takahiro Nakamura,Atsuyoshi Dota,Satoshi Kawasaki,Yoshitsugu Inoue,Naoyuki Maeda,Shuji Yamamoto,Tsutomu Fujiwara,Eugene J.-M.A. Thonar,Yoshikazu Shimomura,Shigeru Kinoshita,Akira Tanigami,Michiko N. Fukuda +18 more
TL;DR: A new carbohydrate sulphotransferase gene (CHST6), encoding an enzyme designated corneal N-acetylglucosamine-6-sulphotranferase (C-GlcNAc6ST), is identified within the critical region of MCD type I, suggesting that mutations found in type II lead to loss of cornea-specific expression of CHST6.
Journal ArticleDOI
Functions of lumican and fibromodulin: Lessons from knockout mice
TL;DR: In tissues like the tendon, where both proteoglycans are present, fibromodulin may be required early in collagen fibrillogenesis to stabilize small-diameter fibril-intermediates and lumican may be needed at a later stage, primarily to limit lateral growth of fibrils.
Journal ArticleDOI
Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review
TL;DR: The biosynthesis of protein O-glycans from their building blocks to their secretion from the Golgi and the key clinical, metabolic, chemical, diagnostic, and genetic features are described and existing methods that might be useful for unraveling O- glycosylation defects in the future are introduced.
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The molecular genetics of the corneal dystrophies--current status.
TL;DR: Genetic studies on inherited diseases affecting the cornea have provided insight into some of these disorders at a basic molecular level and it has become recognized that distinct clinicopathologic phenotypes can result from specific mutations in a particular gene, as well as some different mutations in the same gene.
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Applied Linear Statistical Models
TL;DR: Applied Linear Statistical Models 5e as discussed by the authors is the leading authoritative text and reference on statistical modeling, which includes brief introductory and review material, and then proceeds through regression and modeling for the first half, and through ANOVA and Experimental Design in the second half.
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Applied Linear Statistical Models
TL;DR: The authors used an applied approach with an emphasis on the understanding of concepts and exposition by means of examples, and sufficient theoretical information is provided to enable applications of regression analysis to be carried out.