The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome

LOXL1 (lysyl oxidase-like 1) has been identified as the major effect locus in pseudoexfoliation (PEX) syndrome, a fibrotic disorder of the extracellular matrix and frequent cause of chronic open-angle glaucoma. However, all known PEX-associated common variants show allele effect reversal in populati...

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Detalles Bibliográficos
Autores principales: Berner, Daniel, Hoja, Ursula, Zenkel, Matthias, Ross, James Julian, Uebe, Steffen, Paoli, Daniela, Frezzotti, Paolo, Rautenbach, Robyn M, Ziskind, Ari, Williams, Susan E, Carmichael, Trevor R, Ramsay, Michele, Topouzis, Fotis, Chatzikyriakidou, Anthi, Lambropoulos, Alexandros, Sundaresan, Periasamy, Ayub, Humaira, Akhtar, Farah, Qamar, Raheel, Zenteno, Juan C, Cruz-Aguilar, Marisa, Astakhov, Yury S, Dubina, Michael, Wiggs, Janey, Ozaki, Mineo, Kruse, Friedrich E, Aung, Tin, Reis, André, Khor, Chiea Chuen, Pasutto, Francesca, Schlötzer-Schrehardt, Ursula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6644155/
https://www.ncbi.nlm.nih.gov/pubmed/30986821
http://dx.doi.org/10.1093/hmg/ddz075

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