Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1

10.1038/ncomms15466

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Main Authors:	Pasutto, F, Zenkel, M, Hoja, U, Berner, D, Uebe, S, Ferrazzi, F, Schödel, J, Liravi, P, Ozaki, M, Paoli, D, Frezzotti, P, Mizoguchi, T, Nakano, S, Kubota, T, Manabe, S, Salvi, E, Manunta, P, Cusi, D, Gieger, C, Wichmann, H.-E, Aung, T, Khor, C.C, Kruse, F.E, Reis, A, Schlötzer-Schrehardt, U
Other Authors:	OPHTHALMOLOGY
Format:	Article
Published:	Nature Publishing Group 2020
Subjects:	complementary DNA DNA genomic DNA hepatocyte nuclear factor 4 hepatocyte nuclear factor 4alpha heterodimer immunoglobulin enhancer binding protein immunoglobulin G lysyl oxidase like 1 messenger RNA myogenin nf 1 protein NR2F1 protein oligonucleotide peroxisome proliferator activated receptor alpha peroxisome proliferator activated receptor gamma protein puromycin retinoic acid retinoid X receptor alpha RNA polymerase II roaz protein small interfering RNA transcription factor unclassified drug zid protein LOXL1 protein, human oxidoreductase protein binding allele cardiovascular disease chemical binding data assimilation enzyme activity genetic variation risk factor allelic imbalance alternative RNA splicing Article binding affinity binding site biotinylation chromosome 15 cohort analysis comparative study controlled study DNA binding DNA probe DNA protein complex enhancer region gel mobility shift assay gene activation gene control gene expression gene locus genetic transfection genetic variability genome-wide association study genotype genotype phenotype correlation glaucoma haplotype human human tissue in vitro study intron luciferase assay major clinical study molecular size nonsense mediated mRNA decay polymorphic locus promoter region protein expression pseudoexfoliation quantitative analysis reverse transcription polymerase chain reaction RNA analysis single nucleotide polymorphism steady state transient transfection upregulation aged case control study chemistry chromatin complication female genetic predisposition genetics Germany Italy Japan male middle aged very elderly Aged Aged, 80 and over Alleles Alternative Splicing Amino Acid Oxidoreductases Case-Control Studies Chromatin Enhancer Elements, Genetic Exfoliation Syndrome Female Genetic Predisposition to Disease Genome-Wide Association Study Genotype Glaucoma Humans Introns Male Middle Aged Polymorphism, Single Nucleotide Protein Binding Retinoid X Receptor alpha
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/179715
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spelling	sg-nus-scholar.10635-1797152024-04-12T05:49:08Z Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1 Pasutto, F Zenkel, M Hoja, U Berner, D Uebe, S Ferrazzi, F Schödel, J Liravi, P Ozaki, M Paoli, D Frezzotti, P Mizoguchi, T Nakano, S Kubota, T Manabe, S Salvi, E Manunta, P Cusi, D Gieger, C Wichmann, H.-E Aung, T Khor, C.C Kruse, F.E Reis, A Schlötzer-Schrehardt, U OPHTHALMOLOGY DEPT OF BIOCHEMISTRY complementary DNA DNA genomic DNA hepatocyte nuclear factor 4 hepatocyte nuclear factor 4alpha heterodimer immunoglobulin enhancer binding protein immunoglobulin G lysyl oxidase like 1 messenger RNA myogenin nf 1 protein NR2F1 protein oligonucleotide peroxisome proliferator activated receptor alpha peroxisome proliferator activated receptor gamma protein puromycin retinoic acid retinoid X receptor alpha RNA polymerase II roaz protein small interfering RNA transcription factor unclassified drug zid protein LOXL1 protein, human oxidoreductase protein binding retinoid X receptor alpha allele cardiovascular disease chemical binding data assimilation enzyme activity genetic variation protein risk factor allelic imbalance alternative RNA splicing Article binding affinity binding site biotinylation chromosome 15 cohort analysis comparative study controlled study DNA binding DNA probe DNA protein complex enhancer region gel mobility shift assay gene activation gene control gene expression gene locus genetic transfection genetic variability genetic variation genome-wide association study genotype genotype phenotype correlation glaucoma haplotype human human tissue in vitro study intron luciferase assay major clinical study molecular size nonsense mediated mRNA decay polymorphic locus promoter region protein binding protein expression pseudoexfoliation quantitative analysis reverse transcription polymerase chain reaction RNA analysis single nucleotide polymorphism steady state transient transfection upregulation aged allele case control study chemistry chromatin complication female genetic predisposition genetics Germany Italy Japan male middle aged pseudoexfoliation very elderly Aged Aged, 80 and over Alleles Alternative Splicing Amino Acid Oxidoreductases Case-Control Studies Chromatin Enhancer Elements, Genetic Exfoliation Syndrome Female Genetic Predisposition to Disease Genome-Wide Association Study Genotype Germany Glaucoma Humans Introns Italy Japan Male Middle Aged Polymorphism, Single Nucleotide Protein Binding Retinoid X Receptor alpha 10.1038/ncomms15466 Nature Communications 8 15466 2020-10-26T02:46:19Z 2020-10-26T02:46:19Z 2017 Article Pasutto, F, Zenkel, M, Hoja, U, Berner, D, Uebe, S, Ferrazzi, F, Schödel, J, Liravi, P, Ozaki, M, Paoli, D, Frezzotti, P, Mizoguchi, T, Nakano, S, Kubota, T, Manabe, S, Salvi, E, Manunta, P, Cusi, D, Gieger, C, Wichmann, H.-E, Aung, T, Khor, C.C, Kruse, F.E, Reis, A, Schlötzer-Schrehardt, U (2017). Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1. Nature Communications 8 : 15466. ScholarBank@NUS Repository. https://doi.org/10.1038/ncomms15466 2041-1723 https://scholarbank.nus.edu.sg/handle/10635/179715 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ Nature Publishing Group Unpaywall 20201031
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	complementary DNA DNA genomic DNA hepatocyte nuclear factor 4 hepatocyte nuclear factor 4alpha heterodimer immunoglobulin enhancer binding protein immunoglobulin G lysyl oxidase like 1 messenger RNA myogenin nf 1 protein NR2F1 protein oligonucleotide peroxisome proliferator activated receptor alpha peroxisome proliferator activated receptor gamma protein puromycin retinoic acid retinoid X receptor alpha RNA polymerase II roaz protein small interfering RNA transcription factor unclassified drug zid protein LOXL1 protein, human oxidoreductase protein binding retinoid X receptor alpha allele cardiovascular disease chemical binding data assimilation enzyme activity genetic variation protein risk factor allelic imbalance alternative RNA splicing Article binding affinity binding site biotinylation chromosome 15 cohort analysis comparative study controlled study DNA binding DNA probe DNA protein complex enhancer region gel mobility shift assay gene activation gene control gene expression gene locus genetic transfection genetic variability genetic variation genome-wide association study genotype genotype phenotype correlation glaucoma haplotype human human tissue in vitro study intron luciferase assay major clinical study molecular size nonsense mediated mRNA decay polymorphic locus promoter region protein binding protein expression pseudoexfoliation quantitative analysis reverse transcription polymerase chain reaction RNA analysis single nucleotide polymorphism steady state transient transfection upregulation aged allele case control study chemistry chromatin complication female genetic predisposition genetics Germany Italy Japan male middle aged pseudoexfoliation very elderly Aged Aged, 80 and over Alleles Alternative Splicing Amino Acid Oxidoreductases Case-Control Studies Chromatin Enhancer Elements, Genetic Exfoliation Syndrome Female Genetic Predisposition to Disease Genome-Wide Association Study Genotype Germany Glaucoma Humans Introns Italy Japan Male Middle Aged Polymorphism, Single Nucleotide Protein Binding Retinoid X Receptor alpha
spellingShingle	complementary DNA DNA genomic DNA hepatocyte nuclear factor 4 hepatocyte nuclear factor 4alpha heterodimer immunoglobulin enhancer binding protein immunoglobulin G lysyl oxidase like 1 messenger RNA myogenin nf 1 protein NR2F1 protein oligonucleotide peroxisome proliferator activated receptor alpha peroxisome proliferator activated receptor gamma protein puromycin retinoic acid retinoid X receptor alpha RNA polymerase II roaz protein small interfering RNA transcription factor unclassified drug zid protein LOXL1 protein, human oxidoreductase protein binding retinoid X receptor alpha allele cardiovascular disease chemical binding data assimilation enzyme activity genetic variation protein risk factor allelic imbalance alternative RNA splicing Article binding affinity binding site biotinylation chromosome 15 cohort analysis comparative study controlled study DNA binding DNA probe DNA protein complex enhancer region gel mobility shift assay gene activation gene control gene expression gene locus genetic transfection genetic variability genetic variation genome-wide association study genotype genotype phenotype correlation glaucoma haplotype human human tissue in vitro study intron luciferase assay major clinical study molecular size nonsense mediated mRNA decay polymorphic locus promoter region protein binding protein expression pseudoexfoliation quantitative analysis reverse transcription polymerase chain reaction RNA analysis single nucleotide polymorphism steady state transient transfection upregulation aged allele case control study chemistry chromatin complication female genetic predisposition genetics Germany Italy Japan male middle aged pseudoexfoliation very elderly Aged Aged, 80 and over Alleles Alternative Splicing Amino Acid Oxidoreductases Case-Control Studies Chromatin Enhancer Elements, Genetic Exfoliation Syndrome Female Genetic Predisposition to Disease Genome-Wide Association Study Genotype Germany Glaucoma Humans Introns Italy Japan Male Middle Aged Polymorphism, Single Nucleotide Protein Binding Retinoid X Receptor alpha Pasutto, F Zenkel, M Hoja, U Berner, D Uebe, S Ferrazzi, F Schödel, J Liravi, P Ozaki, M Paoli, D Frezzotti, P Mizoguchi, T Nakano, S Kubota, T Manabe, S Salvi, E Manunta, P Cusi, D Gieger, C Wichmann, H.-E Aung, T Khor, C.C Kruse, F.E Reis, A Schlötzer-Schrehardt, U Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1
description	10.1038/ncomms15466
author2	OPHTHALMOLOGY
author_facet	OPHTHALMOLOGY Pasutto, F Zenkel, M Hoja, U Berner, D Uebe, S Ferrazzi, F Schödel, J Liravi, P Ozaki, M Paoli, D Frezzotti, P Mizoguchi, T Nakano, S Kubota, T Manabe, S Salvi, E Manunta, P Cusi, D Gieger, C Wichmann, H.-E Aung, T Khor, C.C Kruse, F.E Reis, A Schlötzer-Schrehardt, U
format	Article
author	Pasutto, F Zenkel, M Hoja, U Berner, D Uebe, S Ferrazzi, F Schödel, J Liravi, P Ozaki, M Paoli, D Frezzotti, P Mizoguchi, T Nakano, S Kubota, T Manabe, S Salvi, E Manunta, P Cusi, D Gieger, C Wichmann, H.-E Aung, T Khor, C.C Kruse, F.E Reis, A Schlötzer-Schrehardt, U
author_sort	Pasutto, F
title	Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1
title_short	Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1
title_full	Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1
title_fullStr	Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1
title_full_unstemmed	Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1
title_sort	pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of loxl1
publisher	Nature Publishing Group
publishDate	2020
url	https://scholarbank.nus.edu.sg/handle/10635/179715
_version_	1800914566530465792

Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1

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