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• W2144374844 abstract "Type XVIII collagen/endostatin is known to be crucial for the eye, as witnessed by severe eye defects in Knobloch syndrome patients with mutations in this collagen and in Col18a1−/− mice. We show here that in a specific C57BL background, 20% of the Col18a1−/− mice developed hydrocephalus, and dilation of the brain ventricles was observed by MRI in all of the mutant mice. Significant broadening was observed in the epithelial basement membrane (BM) of the choroid plexuses (CP), its width being 86.4±10.52 nm, compared with 61.4±6.05 nm in wild-type mice. The CP epithelial cell morphology was balloon-shaped rather than cuboidal, and the microvilli of the apical surface of the CP epithelium contained more vacuoles in the null mice than in the wild-type, as also did the CP epithelial cells, which is suggestive of alterations in cerebrospinal fluid production. Analysis of BMs elsewhere in the body revealed a broadened epidermal BM in the Col18a1−/− mice, but this did not result in any apparent functional deficiencies. Moreover, markedly broadened BMs were found in the atrioventricular valves of the heart and in the kidney tubules, whereas the glomerular mesangial matrix of the kidneys was expanded in the mutant mice and serum creatinine levels were elevated, indicating alterations in kidney filtration capacity. We thus suggest that type XVIII collagen is a structurally important constituent of BMs, and that its absence can result in a variety of phenotypic alterations." @default.
• W2144374844 created "2016-06-24" @default.
• W2144374844 creator A5027318264 @default.
• W2144374844 date "2004-07-21" @default.
• W2144374844 modified "2023-10-15" @default.
• W2144374844 title "Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line" @default.
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• W2144374844 doi "https://doi.org/10.1093/hmg/ddh213" @default.
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