The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Identification of a Gene That Causes Primary Open Angle Glaucoma
Abstract
Glaucoma is a major cause of blindness and is characterized by progressive degeneration of the optic nerve and is usually associated with elevated intraocular pressure. Analyses of sequence tagged site (STS) content and haplotype sharing between families affected with chromosome 1q-linked open angle glaucoma ( GLC1A ) were used to prioritize candidate genes for mutation screening. A gene encoding a trabecular meshwork protein ( TIGR ) mapped to the narrowest disease interval by STS content and radiation hybrid mapping. Thirteen glaucoma patients were found to have one of three mutations in this gene (3.9 percent of the population studied). One of these mutations was also found in a control individual (0.2 percent). Identification of these mutations will aid in early diagnosis, which is essential for optimal application of existing therapies.
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Cites
Molecular characterization of a peripheral receptor for cannabinoids
Munro, S., Thomas, K. L., & Abu-Shaar, M. (1993) · Nature · doi:10.1038/365061a0 · Cited by 5,092
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The Pathophysiology and Treatment of Glaucoma: A Review
Weinreb, R. N., Aung, T., & Medeiros, F. A. (2014) · JAMA · doi:10.1001/jama.2014.3192 · Cited by 4,210
Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma
Thorleifsson, G., Magnusson, K. P., Sulem, P., Walters, G. B., Gudbjartsson, D. F., Stefansson, H., Jonsson, T., Jonasdottir, A., Jonasdottir, A., Stefansdottir, G., et al. (2007) · Science · doi:10.1126/science.1146554 · Cited by 677
Extracellular matrix in the trabecular meshwork
Acott, T. S., & Kelley, M. J. (2008) · Experimental Eye Research · doi:10.1016/j.exer.2008.01.013 · Cited by 503
Primary Open-Angle Glaucoma Preferred Practice Pattern®
Gedde, S. J., Vinod, K., Wright, M. M., Muir, K. W., Lind, J. T., Chen, P. P., Li, T., & Mansberger, S. L. (2021) · Ophthalmology · doi:10.1016/j.ophtha.2020.10.022 · Cited by 474
Locally Administered Ocular Corticosteroids: Benefits and Risks
Mcghee, C. N. J., Dean, S., & Danesh-Meyer, H. (2002) · Drug Safety · doi:10.2165/00002018-200225010-00004 · Cited by 332
Metadata
- Authors
- Stone, E. M., Fingert, J. H., Alward, W. L. M., Nguyen, T. D., Polansky, J. R., Sunden, S. L. F., Nishimura, D., Clark, A. F., Nystuen, A., Nichols, B. E., Mackey, D. A., Ritch, R., Kalenak, J. W., Craven, E. R., & Sheffield, V. C.
- Venue
- Science
- Published
- 1997-01-31
- Volume
- 275
- Issue
- 5300
- Pages
- 668-670
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2100159037
- Cited by
- 1,433
- References
- 1
- FWCI
- 65.37
- Type
- journal article
- Language
- en
- Open access
- closed
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- The paper
- Stone, E. M., Fingert, J. H., Alward, W. L. M., Nguyen, T. D., Polansky, J. R., Sunden, S. L. F., Nishimura, D., Clark, A. F., Nystuen, A., Nichols, B. E., Mackey, D. A., Ritch, R., Kalenak, J. W., Craven, E. R., & Sheffield, V. C. (1997). Identification of a Gene That Causes Primary Open Angle Glaucoma. Science. https://doi.org/10.1126/science.275.5300.668
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