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

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.

Saved in:
Bibliographic Details
Main Authors: 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
Format: article
Language:EN
Published: Nature Portfolio 2017
Subjects:
Science
Q
Online Access:https://doaj.org/article/4c5b624c0f3046ca8b61dfafdf853221
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://doaj.org/article/4c5b624c0f3046ca8b61dfafdf853221

Similar Items