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

Although lysyl oxidase-like 1 (LOXL1) is known as the principal genetic risk factor for pseudoexfoliation (PEX) syndrome, a major cause of glaucoma and cardiovascular complications, no functional variants have been identified to date. Here, we conduct a genome-wide association scan on 771 German PEX...

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Pubblicato in:Nat Commun
Autori principali: Pasutto, Francesca, Zenkel, Matthias, Hoja, Ursula, Berner, Daniel, Uebe, Steffen, Ferrazzi, Fulvia, Schödel, Johannes, Liravi, Panah, Ozaki, Mineo, Paoli, Daniela, Frezzotti, Paolo, Mizoguchi, Takanori, Nakano, Satoko, Kubota, Toshiaki, Manabe, Shinichi, Salvi, Erika, Manunta, Paolo, Cusi, Daniele, Gieger, Christian, Wichmann, Heinz-Erich, Aung, Tin, Khor, Chiea Chuen, Kruse, Friedrich E., Reis, André, Schlötzer-Schrehardt, Ursula
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5457519/
https://ncbi.nlm.nih.gov/pubmed/28534485
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms15466
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