Discovery and Functional Annotation of SIX6 Variants in Primary Open-Angle Glaucoma

• Main Authors: Ulmer Carnes M., Liu Y.P., Allingham R.R., Whigham B.T., Havens S., Garrett M.E., Qiao C., Katsanis N., Wiggs J.L., Pasquale L.R., Ashley-Koch A., Oh E.C., Hauser M.A., Brilliant M., Budenz D.L., Chin H.R., Cooke Bailey J., Fingert J., Friedman D.S., Gaasterland D., Gaasterland T., Haines J., Kang J.H., Lee R.K., Lichter P.R., Liu Y., Loomis S., McCarty C.E., Moroi S.E., Pericak-Vance M., Realini A., Richards J.E., Schuman J.S., Scott W.K., Singh K., Sit A., Vollrath D., Weinreb R.N., Wollstein G., Yaspan B.L., Zack D., Zhang K.
• Other Authors: DUKE-NUS MEDICAL SCHOOL
• Format: Article
• Published: 2019
• Subjects: asparagine; histidine; transcription factor; transcription factor Six6; unclassified drug; article; controlled study; DNA sequence; gene deletion; gene disruption; gene expression; gene frequency; gene identification; gene locus; genetic association; genetic variability; genotype; homozygosity; in vitro study; in vivo study; missense mutation; nonhuman; open angle glaucoma; optical coherence tomography; phenotype; protein function; retinal nerve fiber layer thickness; risk factor; single nucleotide polymorphism; visual impairment
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/161941
• Institution: National University of Singapore

10.1371/journal.pgen.1004372