Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus.

@article{Hauser2015GeneticVA,
  title={Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus.},
  author={Michael A. Hauser and Inas F. Aboobakar and Yutao Liu and Shiroh Miura and Benjamin T. Whigham and Pratap Challa and Joshua J Wheeler and Andrew M. Williams and Cecelia Santiago-Turla and Xuejun Qin and Robyn M. Rautenbach and Ari Ziskind and Mich{\'e}le Ramsay and Steffen Uebe and Lingyun Song and Alexias Safi and Eranga Vithana and Takanori Mizoguchi and Satoko Nakano and Toshiaki Kubota and Ken Hayashi and Shin-ichi Manabe and Shigeyasu Kazama and Yosai Mori and Kazunori Miyata and Nagahisa Yoshimura and Andr{\'e} Reis and Gregory E. Crawford and Francesca Pasutto and Trevor Robin Carmichael and Susan E. I. Williams and Mineo Ozaki and Tin Aung and Chiea Chuen Khor and William Daniel Stamer and Allison E. Ashley-Koch and Robert Rand Allingham},
  journal={Human molecular genetics},
  year={2015},
  volume={24 22},
  pages={6552-63}
}
Exfoliation syndrome (XFS) is a common, age-related, systemic fibrillinopathy. It greatly increases risk of exfoliation glaucoma (XFG), a major worldwide cause of irreversible blindness. Coding variants in the lysyl oxidase-like 1 (LOXL1) gene are strongly associated with XFS in all studied populations, but a functional role for these variants has not been established. To identify additional candidate functional variants, we sequenced the entire LOXL1 genomic locus (∼40 kb) in 50 indigenous… CONTINUE READING
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