Lysyl oxidase-like protein 1 (LOXL1) gene polymorphisms and exfoliation glaucoma in a Central European population
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94 citations
Cites background from "Lysyl oxidase-like protein 1 (LOXL1..."
...These findings have subsequently been replicated in numerous populations globally [16-34], but to date there has not been a study of Molecular Vision 2010; 16:705-712 <http://www....
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Cites background from "Lysyl oxidase-like protein 1 (LOXL1..."
...In most reported studies on LOXL1 and XFS/XFG, the three SNPs (rs1048661, rs2165241, and rs3825942) have been investigated together [11-23,25-28]....
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...Since then the association of LOXL1 SNPs with XFS/ XFG has been reported in Caucasian populations in the USA [12-16], Australia [17], Austria [18], Germany [19,20], Italy [20], and Finland [21] and in other ethnic groups, including Japanese [22-27], Indian [28], and Chinese [29,30]....
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...On the other hand, the allelic and genotypic distributions of the three SNPs were found to be drastically different among different populations [11-23,25-28]....
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...Cohorts whose allele counting data were calculated from the frequencies data, Challa’s Duke (US) cohort [13] and Hewitt’s Austrian cohort [17], were removed....
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References
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"Lysyl oxidase-like protein 1 (LOXL1..." refers background or result in this paper
...Most importantly, a recent genome-wide association study from Icelandic and Swedish patients with XFS and XFG found two common non-synonymous single nucleotide polymorphisms in exon 1 of the lysyl oxidase-like protein 1 gene (LOXL1; OMIM 153456) conferring increased risk for the development of XFS and XFG (rs1048661 and rs3825942) [10]....
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...Beside the original study from Thorleifsson and coworkers [10] that included an Icelandic and a Swedish cohort, four studies from the United States, one study from Australia, one study from Japan, and one from India investigating LOXL1 polymorphisms in XFS and XFG have been performed [10,15-21]....
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629 citations
"Lysyl oxidase-like protein 1 (LOXL1..." refers background in this paper
...Mice lacking LOXL1 display tropoelastin accumulation in multiple tissues, which leads to pelvic organ prolapse, emphysematous changes, and vascular abnormalities [13]....
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...This deamination leads to the polymerization of tropoelastin to elastin, which is the first step of elastogenesis [12,13]....
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400 citations
"Lysyl oxidase-like protein 1 (LOXL1..." refers background in this paper
...Mainstay of the pathogenesis of exfoliation syndrome is the accumulation of pathognomonic fibrils in the anterior segment of the eye as well as in extraocular locations [1]....
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...Exfoliation syndrome (XFS; OMIM 177650) is characterized by an accumulation of abnormal extracellular fibrillar material not only in different structures of the eye but also in various extraocular tissues [1]....
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218 citations
"Lysyl oxidase-like protein 1 (LOXL1..." refers background in this paper
...These fibrils are partly composed of components of the elastic fiber system like elastin, tropoelastin, amyloid P, and latent TGF-β binding proteins [2,4]....
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...Secondary open-angle glaucoma due to XFS (exfoliation glaucoma, XFG) develops as a consequence of deposition of exfoliation material and of liberated iris pigment in the trabecular meshwork leading to elevated intraocular pressure and consecutively glaucomatous optic neuropathy [4]....
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