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LOXL1 variants that contribute to exfoliative glaucoma demonstrate various differences and are also common in normal population.
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LOXL1, LOXL3, and LOXL4 expressions are associated with distant metastasis of gastric cancer.
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The current study aimed to investigate the role of LOXL1 in liver fibrosis and the potential mechanism; the mRNA and protein levels of LOXL1 were increased in transforming growth factor-beta 1 (TGF-beta1)-stimulated human hepatic stellate cell line LX-2.
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the rs11638944:C>G transversion exerts a cis-acting effect on the expression levels of LOXL1, mediated by differential binding of the transcription factor retinoid X receptor alpha and by modulating alternative splicing of LOXL1, eventually leading to reduced levels of LOXL1 mRNA in cells and tissues of risk allele carriers for pseudoexfoliation syndrome
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LOXL1/LOXL2 gene expression and protein levels were increased in Idiopathic pulmonary fibrosis (IPF) versus non-IPF.
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This study focused on the relationship between lysyl oxidase (LOX), LOX-like protein 1 (LOXL1), and LOXL2 and pulmonary emphysema pathogenesis.
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These findings provide evidence for a functional role of alternative splicing coupled to NMD in the posttranscriptional regulation of LOXL1 gene expression and suggest this mechanism to represent a dynamic mode of adapting LOXL1 expression to PEX-associated environmental and nutritional cues.
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remenopausal and postmenopausal women with Pelvic Organ Prolapse (POP) exhibit differential expression of LOXL1 suggesting different pathways in the pathogenesis of POP. The role of biopsy location on LOXL1 expression requires further investigation.
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In this study, we found no significant association between allele and genotype frequencies of APOE; the intronic SNP rs2165241 and the non-synonymous SNP rs3825942 in exon 1 of LOXL1 are significantly associated with pseudoexfoliation syndrome and exfoliation glaucoma in the Turkish population.
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The LOXL1 SNPs, rs1048661 and rs3825942, are associated with PXF in the South Indian population correlating with lowered LOX activity in the aqueous humor. The increased level of total TGF-beta in the aqueous humor of PXF cases is possibly associated with LOX regulation which needs further investigation.
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A rare protective allele at LOXL1,Tyr407Phe, was identified. It is found exclusively in the Japanese population. It confers 25-fold resistance to XFS. It segregated with the common rs3825942[A] (p.Asp153) in all but 2 patients examined. In spheroids, this haplotype conferred a significant increase in the strength of cellular adhesion in comparison to 3 haplotypes with the wild-type allele.
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Findings of this current study indicate a different LOXL1 gene expression pattern compared with a recent study that was also performed in the Turkish population.
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LOXL1 transcriptional activity was dramatically reduced when a recombinant DNMT3A was concomitantly overexpressed.
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The present study, for the first time, shows that the pseudoexfoliation syndrome-associated variant residues in LOXL1 influence processing of the protein, most likely by BMP-1.
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In this study group of Turkish population, no LOXL1 mutations were found. No associations between the defined SNPs (A320A, R141L and F184F) and the severity of the disease were detected.
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Here we show that orthotopic implantation of rat prostate AT-1 tumour cells increased LOX and LOXLs mRNA expressions in the tumour and in the surrounding non-malignant prostate tissue
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To identify additional candidate functional variants, we sequenced the entire LOXL1 genomic locus ( approximately 40 kb) in 50 indigenous, black South African XFS cases and 50 matched controls.
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This is the first study associating two SNPs of LOXL1 (rs3825942 and rs2165241) and XFS/XFG in a Spanish population, confirming findings in patients from Europe.
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Aortic tissue from Marfan syndrome patients and display enhanced expression of the members of the LOX family, LOX and LOX-like 1.
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Our meta-analysis indicates that rs1048661 had weak association with XFG/XFS; rs3825942 had strongly association with XFG/XFS; and rs2165241 had significant risk with XFG/XFS in some ethnicity.
