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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Aberrant expressions of decorin and biglycan genes in the carbohydrate-deficient glycoprotein syndrome.

Carbohydrate-deficient glycoprotein syndrome (CDGS) is a congenital disorder characterized by neurological and developmental defects. We have examined the expressions of the small proteoglycans decorin and biglycan in cultured skin fibroblasts from a patient with CDGS Type-I. Northern blotting analysis identified a marked reduction in decorin mRNA and an increase in biglycan mRNA levels. The decorin protein in the culture medium was decreased. Responses to interleukin-1 beta (IL-1 beta) and transforming growth factor-beta 1 (TGF-beta 1) were apparently abnormal; decorin was only slightly up-regulated by IL-1 beta, while biglycan was markedly down-regulated by IL-1 beta and significantly up-regulated by TGF-beta 1. The constitutional and developmental abnormalities characteristic of CDGS may be associated with such derangements in the expression of proteoglycan genes.[1]


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