Identification of a gene that causes primary open angle glaucoma

Science
E M StoneV C Sheffield

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.

References

Apr 1, 1979·American Journal of Ophthalmology·H A Quigley, A E Maumenee
Jul 1, 1975·American Journal of Ophthalmology·R Hiller, H A Kahn
Jul 1, 1991·Analytical Biochemistry·B J BassamP M Gresshoff
Feb 1, 1990·Archives of Ophthalmology·J M TielschR M Royall
Oct 1, 1994·International Immunology·T TakahashiS Nagata
Jul 1, 1993·Human Molecular Genetics·H C WatkinsJ G Seidman
May 1, 1993·Nature Genetics·V C SheffieldB E Nichols
Sep 1, 1995·Genome Research·K LangeK L Lunetta

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Citations

Jun 13, 1998·Genome Research·J H FingertE M Stone
Apr 1, 1998·Human Mutation·F C ManserghG J Farrar
Apr 3, 1999·Clinical Genetics·J S Friedman, M A Walter
Feb 11, 1999·Acta Ophthalmologica Scandinavica. Supplement·A AngiusM Pirastu
Sep 16, 2000·The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society·J UedaB Y Yue
Jan 6, 2001·Current Opinion in Ophthalmology·M C Carnahan, D A Goldstein
Mar 21, 2001·Pharmacogenomics·H T Steely, A F Clark
May 10, 2001·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·A F ClarkE M Stone
Mar 14, 2002·Journal of Glaucoma·P R Lichter
Feb 1, 2002·Drug Safety : an International Journal of Medical Toxicology and Drug Experience·Charles N J McGheeHelen Danesh-Meyer
Jun 27, 2002·Expert Opinion on Pharmacotherapy·Jess T Whitson
Jun 5, 2003·Journal of Glaucoma·Colleen H WilkinsonDavid A Mackey
Aug 12, 2003·Drug Safety : an International Journal of Medical Toxicology and Drug Experience·Ramesh C TripathiChris Haggerty
Apr 3, 2003·Journal of Glaucoma·José Paulo Cabral de VasconcellosVital Paulino Costa
Mar 17, 2004·Current Opinion in Ophthalmology·Claudia S Cohen, R Rand Allingham
Mar 17, 2004·Current Opinion in Ophthalmology·Velota C T Sung, Keith Barton
Sep 17, 2004·Ophthalmic Genetics·Tomoko UmedaHiroshi Ohtsuki
Aug 7, 2004·Eye·C T Ntim-AmponsahS Ofosu-Amaah
Jul 16, 2005·Ophthalmic Genetics·Mattias JanssonMansoor Sarfarazi
Jun 10, 2005·The Journal of Biological Chemistry·Katharine M HardyW Daniel Stamer
Jul 21, 2006·Annals of the New York Academy of Sciences·José A P Da SilvaJohannes W J Bijlsma
Mar 23, 2006·Current Opinion in Ophthalmology·Constance Nduaguba, Richard K Lee
Jul 29, 2006·Clinical & Experimental Ophthalmology·Alex W HewittDavid A Mackey
Oct 30, 2007·Human Mutation·Alex W HewittJamie E Craig
May 23, 2007·Journal of Cellular Physiology·Hiroshi SakaiBeatrice Y J T Yue
Apr 26, 2008·Veterinary Ophthalmology·E O MackayK N Gelatt
Jul 24, 2008·Pharmaceutical Research·Liesbeth PeetersStefaan C De Smedt
Apr 30, 2009·Physiological Genomics·Núria Comes, Teresa Borrás
Jan 1, 2008·Personalized Medicine·Duska J SidjaninRussell A Wilke
Feb 20, 2009·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·K KatoB S Shastry
Sep 3, 2009·Clinical & Experimental Ophthalmology·Justin C SherwinDavid A Mackey
May 1, 2010·The Tohoku Journal of Experimental Medicine·Nobuo Fuse
Sep 14, 2010·Nature Genetics·Gudmar ThorleifssonKari Stefansson
Sep 3, 2010·The Journal of Clinical Investigation·Bao Jian Fan, Janey L Wiggs
Aug 31, 2011·Journal of Ophthalmology·Christian Albrecht May
Jun 29, 2011·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Farid MenaaMonica Barbosa De Melo

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