Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1
LOXL1 is a genetic risk factor for pseudoexfoliation syndrome of the eye but a causal variant has not been identified. Here, Pasutto et al., find intronic LOXL1 risk variants influence transcription factor binding and alternative splicing of LOXL1 in affected tissues reducing levels of LOXL1mRNA.
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Nature Portfolio
2017
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oai:doaj.org-article:4c5b624c0f3046ca8b61dfafdf8532212021-12-02T14:40:56ZPseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL110.1038/ncomms154662041-1723https://doaj.org/article/4c5b624c0f3046ca8b61dfafdf8532212017-05-01T00:00:00Zhttps://doi.org/10.1038/ncomms15466https://doaj.org/toc/2041-1723LOXL1 is a genetic risk factor for pseudoexfoliation syndrome of the eye but a causal variant has not been identified. Here, Pasutto et al., find intronic LOXL1 risk variants influence transcription factor binding and alternative splicing of LOXL1 in affected tissues reducing levels of LOXL1mRNA.Francesca PasuttoMatthias ZenkelUrsula HojaDaniel BernerSteffen UebeFulvia FerrazziJohannes SchödelPanah LiraviMineo OzakiDaniela PaoliPaolo FrezzottiTakanori MizoguchiSatoko NakanoToshiaki KubotaShinichi ManabeErika SalviPaolo ManuntaDaniele CusiChristian GiegerHeinz-Erich WichmannTin AungChiea Chuen KhorFriedrich E. KruseAndré ReisUrsula Schlötzer-SchrehardtNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-16 (2017) |
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Science Q |
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Science Q Francesca Pasutto Matthias Zenkel Ursula Hoja Daniel Berner Steffen Uebe Fulvia Ferrazzi Johannes Schödel Panah Liravi Mineo Ozaki Daniela Paoli Paolo Frezzotti Takanori Mizoguchi Satoko Nakano Toshiaki Kubota Shinichi Manabe Erika Salvi Paolo Manunta Daniele Cusi Christian Gieger Heinz-Erich Wichmann Tin Aung Chiea Chuen Khor Friedrich E. Kruse André Reis Ursula Schlötzer-Schrehardt Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1 |
| description |
LOXL1 is a genetic risk factor for pseudoexfoliation syndrome of the eye but a causal variant has not been identified. Here, Pasutto et al., find intronic LOXL1 risk variants influence transcription factor binding and alternative splicing of LOXL1 in affected tissues reducing levels of LOXL1mRNA. |
| format |
article |
| author |
Francesca Pasutto Matthias Zenkel Ursula Hoja Daniel Berner Steffen Uebe Fulvia Ferrazzi Johannes Schödel Panah Liravi Mineo Ozaki Daniela Paoli Paolo Frezzotti Takanori Mizoguchi Satoko Nakano Toshiaki Kubota Shinichi Manabe Erika Salvi Paolo Manunta Daniele Cusi Christian Gieger Heinz-Erich Wichmann Tin Aung Chiea Chuen Khor Friedrich E. Kruse André Reis Ursula Schlötzer-Schrehardt |
| author_facet |
Francesca Pasutto Matthias Zenkel Ursula Hoja Daniel Berner Steffen Uebe Fulvia Ferrazzi Johannes Schödel Panah Liravi Mineo Ozaki Daniela Paoli Paolo Frezzotti Takanori Mizoguchi Satoko Nakano Toshiaki Kubota Shinichi Manabe Erika Salvi Paolo Manunta Daniele Cusi Christian Gieger Heinz-Erich Wichmann Tin Aung Chiea Chuen Khor Friedrich E. Kruse André Reis Ursula Schlötzer-Schrehardt |
| author_sort |
Francesca Pasutto |
| 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 Portfolio |
| publishDate |
2017 |
| url |
https://doaj.org/article/4c5b624c0f3046ca8b61dfafdf853221 |
| work_keys_str_mv |
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