Journal article

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

Tomokazu Souma, Stuart W Tompson, Benjamin R Thomson, Owen M Siggs, Krishnakumar Kizhatil, Shinji Yamaguchi, Liang Feng, Vachiranee Limviphuvadh, Kristina N Whisenhunt, Sebastian Maurer-Stroh, Tammy L Yanovitch, Luba Kalaydjieva, Dimitar N Azmanov, Simone Finzi, Lucia Mauri, Shahrbanou Javadiyan, Emmanuelle Souzeau, Tiger Zhou, Alex W Hewitt, Bethany Kloss Show all

Journal of Clinical Investigation | AMER SOC CLINICAL INVESTIGATION INC | Published : 2016


Awarded by NIH

Awarded by NCI CCSG

Awarded by University of Wisconsin-Madison Department of Ophthalmology and Visual Sciences

Funding Acknowledgements

We thank the patient subjects for participating in this study. We also thank John Pater, Joanna Black, Jane Kelly, Sharon Freedman, Ivailo Tourney, and Sylvia Cherninkova for clinical input and Richard Smith for assessment of murine eye phenotypes; Daniel Berner for sequencing assistance; and Andrew Wei and Anna Woo for technical assistance. This study was funded by NIH R01 HL124120 (S.E. Quaggin); NIH R01 EY014685, the Research to Prevent Blindness Inc. Lew R. Wasserman Award, the Duke National University of Singapore Core Grant, and the University of Wisconsin Centennial Scholars Award (T.L. Young); and NIH Career Development Award K12, 1K23EY020554 (T.L. Yanovitch). This work was also supported by grants from the March of Dimes Foundation (J.L. Wiggs), Howard Hughes Medical Center and EY 11721 (S. John and K. Kizhatil), the Ophthalmic Research Institute of Australia, the Channel Seven Children's Research Foundation, Department of Innovation, Industry, Science and Research, and the National Health and Medical Research Council of Australia (NHMRC). T. Souma is supported by fellowship grants from the Japan Society for the Promotion of Science and Mallinckrodt Pharmaceuticals. B.R. Thomson is supported by the Canadian Institute of Health Research. K.P. Burdon, J.E. Craig, and D.N. Azmanov are supported by fellowships from the NHMRC. Imaging was performed at the Northwestern University Center for Advanced Microscopy supported by NCI CCSG P30 CA060553 awarded to the Robert H. Lurie Comprehensive Cancer Center. We also acknowledge support from Vision Core Grant NEI P30EY016665 of the University of Wisconsin-Madison Department of Ophthalmology and Visual Sciences. Proteomics analyses were supported by the Northwestern University Proteomics Core. We thank Dhaval Nanavati (Northwestern University, Proteomics Core) for technical support and helpful discussions.