Human Molecular Genetics, Vol 8, 899-905, Copyright © 1999 by Oxford University Press
JH Fingert, E Heon, JM Liebmann, T Yamamoto, JE Craig, J Rait, K Kawase, ST Hoh, YM Buys, J Dickinson, RR Hockey, D Williams-Lyn, G Trope, Y Kitazawa, R Ritch, DA Mackey, WL Alward, VC Sheffield and EM Stone
A glaucoma locus, GLC1A, was identified previously on chromosome 1q. A gene
within this locus (encoding the protein myocilin) subsequently was shown to
harbor mutations in 2-4% of primary open angle glaucoma patients. A total
of 1703 patients was screened from five different populations representing
three racial groups. There were 1284 patients from primarily Caucasian
populations in Iowa (727), Australia (390) and Canada (167). A group of 312
African American patients was from New York City and 107 Asian patients
from Japan. Overall, 61 different myocilin sequence variations were
identified. Of the 61 variations, 21 were judged to be probable
disease-causing mutations. The number of probands found to harbor such
mutations in each population was: Iowa 31/727 (4.3%), African Americans
from New York City 8/312 (2.6%), Japan 3/107 (2.8%), Canada 5/167 (3.0%),
Australia 11/390 (2.8%) and overall 58/1703 (3. 4%). Overall, 16 (76%) of
21 mutations were found in only one population. The most common mutation
observed, Gln368Stop, was found in 27/1703 (1.6%) glaucoma probands and was
found at least once in all groups except the Japanese. Studies of genetic
markers flanking the myocilin gene suggest that most cases of the
Gln368Stop mutations are descended from a common founder. Although the
specific mutations found in each of the five populations were different,
the overall frequency of myocilin mutations was similar ( approximately
2-4%) in all populations, suggesting that the increased rate of glaucoma in
African Americans is not due to a higher prevalence of myocilin mutations.
ARTICLES
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
Department of Ophthalmology, The University of Iowa College of Medicine, Iowa City, IA 52242, USA.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  L. M. E. van Koolwijk, P. R. Healey, R. A. Hitchings, P. Mitchell, P. C. Sham, P. McGuffin, and A. C. Viswanathan Major Genetic Effects in Glaucoma: Commingling Analysis of Optic Disc Parameters in an Older Australian Population Invest. Ophthalmol. Vis. Sci., November 1, 2009; 50(11): 5275 - 5280. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H.-S. Kwon, H.-S. Lee, Y. Ji, J. S. Rubin, and S. I. Tomarev Myocilin Is a Modulator of Wnt Signaling Mol. Cell. Biol., April 15, 2009; 29(8): 2139 - 2154. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Park, Y. Jamshidi, D. Vaideanu, M. Bitner-Glindzicz, S. Fraser, and J. C. Sowden Genetic Risk for Primary Open-Angle Glaucoma Determined by LMX1B Haplotypes Invest. Ophthalmol. Vis. Sci., April 1, 2009; 50(4): 1522 - 1530. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y. H. Kwon, J. H. Fingert, M. H. Kuehn, and W. L.M. Alward Primary Open-Angle Glaucoma N. Engl. J. Med., March 12, 2009; 360(11): 1113 - 1124. [Full Text] [PDF]
|
|
|
|
 |
|
 J. H. Fingert, K. Oh, M. Chung, T. E. Scheetz, J. L. Andorf, R. M. Johnson, V. C. Sheffield, and E. M. Stone Association of a Novel Mutation in the Retinol Dehydrogenase 12 (RDH12) Gene With Autosomal Dominant Retinitis Pigmentosa Arch Ophthalmol, September 1, 2008; 126(9): 1301 - 1307. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 F Carbonaro, T Andrew, D A Mackey, T D Spector, and C J Hammond Heritability of intraocular pressure: a classical twin study Br J Ophthalmol, August 1, 2008; 92(8): 1125 - 1128. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. He, B. Liu, W. Huang, J. Zhang, Q. Yin, Y. Zheng, D. Wang, and J. Ge Heritability of Optic Disc and Cup Measured by the Heidelberg Retinal Tomography in Chinese: The Guangzhou Twin Eye Study Invest. Ophthalmol. Vis. Sci., April 1, 2008; 49(4): 1350 - 1355. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. He, K. W. Leung, Y.-H. Zhang, S. Duan, X.-F. Zhong, R.-Z. Jiang, Z. Peng, J. Tombran-Tink, and J. Ge Mitochondrial Complex I Defect Induces ROS Release and Degeneration in Trabecular Meshwork Cells of POAG Patients: Protection by Antioxidants Invest. Ophthalmol. Vis. Sci., April 1, 2008; 49(4): 1447 - 1458. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 F. Sanchez-Sanchez, F. Martinez-Redondo, J. D. Aroca-Aguilar, M. Coca-Prados, and J. Escribano Characterization of the Intracellular Proteolytic Cleavage of Myocilin and Identification of Calpain II as a Myocilin-processing Protease J. Biol. Chem., September 21, 2007; 282(38): 27810 - 27824. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. M. E. van Koolwijk, D. D. G. Despriet, C. M. van Duijn, L. M. Pardo Cortes, J. R. Vingerling, Y. S. Aulchenko, B. A. Oostra, C. C. W. Klaver, and H. G. Lemij Genetic Contributions to Glaucoma: Heritability of Intraocular Pressure, Retinal Nerve Fiber Layer Thickness, and Optic Disc Morphology Invest. Ophthalmol. Vis. Sci., August 1, 2007; 48(8): 3669 - 3676. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 B.-C. Park, M. Tibudan, M. Samaraweera, X. Shen, and B. Y.J.T. Yue Interaction between two glaucoma genes, optineurin and myocilin Genes Cells, August 1, 2007; 12(8): 969 - 979. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Bhattacharjee, M. Acharya, A. Mukhopadhyay, S. Mookherjee, D. Banerjee, A. K. Bandopadhyay, S. K. D. Thakur, A. Sen, and K. Ray Myocilin Variants in Indian Patients With Open-angle Glaucoma Arch Ophthalmol, June 1, 2007; 125(6): 823 - 829. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. H.-F. Yam, K. Gaplovska-Kysela, C. Zuber, and J. Roth Sodium 4-Phenylbutyrate Acts as a Chemical Chaperone on Misfolded Myocilin to Rescue Cells from Endoplasmic Reticulum Stress and Apoptosis Invest. Ophthalmol. Vis. Sci., April 1, 2007; 48(4): 1683 - 1690. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. R. Shepard, N. Jacobson, J. C. Millar, I.-H. Pang, H. T. Steely, C. C. Searby, V. C. Sheffield, E. M. Stone, and A. F. Clark Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure Hum. Mol. Genet., March 15, 2007; 16(6): 609 - 617. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. H. Fingert, W. L. M. Alward, Y. H. Kwon, S. P. Shankar, J. L. Andorf, D. A. Mackey, V. C. Sheffield, and E. M. Stone No Association Between Variations in the WDR36 Gene and Primary Open-Angle Glaucoma Arch Ophthalmol, March 1, 2007; 125(3): 434 - 436. [Full Text] [PDF]
|
|
|
|
|
|
A. W. Hewitt, S. L. Bennett, J. H. Fingert, R. L. Cooper, E. M. Stone, J. E. Craig, and D. A. Mackey The Optic Nerve Head in Myocilin Glaucoma Invest. Ophthalmol. Vis. Sci., January 1, 2007; 48(1): 238 - 243. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. K. Iyengar The Quest for Genes Causing Complex Traits in Ocular Medicine: Successes, Interpretations, and Challenges Arch Ophthalmol, January 1, 2007; 125(1): 11 - 18. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. L. Wiggs Genetic Etiologies of Glaucoma Arch Ophthalmol, January 1, 2007; 125(1): 30 - 37. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. P. Suriyapperuma, A. Child, T. Desai, G. Brice, A. Kerr, R. P. Crick, and M. Sarfarazi A New Locus (GLC1H) for Adult-Onset Primary Open-angle Glaucoma Maps to the 2p15-p16 Region Arch Ophthalmol, January 1, 2007; 125(1): 86 - 92. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. W. Hewitt, S. L. Bennett, J. E. Richards, D. P. Dimasi, A. P. Booth, C. Inglehearn, R. Anwar, T. Yamamoto, J. H. Fingert, E. Heon, et al. Myocilin Gly252Arg Mutation and Glaucoma of Intermediate Severity in Caucasian Individuals Arch Ophthalmol, January 1, 2007; 125(1): 98 - 104. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. L. Bennett, A. W. Hewitt, J. L. Poulsen, L. S. Kearns, J. E. Morgan, J. E. Craig, and D. A. Mackey Screening for Glaucomatous Disc Changes Prior to Diagnosis of Glaucoma in Myocilin Pedigrees Arch Ophthalmol, January 1, 2007; 125(1): 112 - 116. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 G. H.-F. Yam, K. Gaplovska-Kysela, C. Zuber, and J. Roth Aggregated Myocilin Induces Russell Bodies and Causes Apoptosis: Implications for the Pathogenesis of Myocilin-Caused Primary Open-Angle Glaucoma Am. J. Pathol., January 1, 2007; 170(1): 100 - 109. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. Y. Wang, B. J. Fan, J. K. H. Chua, P. O. S. Tam, C. K. S. Leung, D. S. C. Lam, and C. P. Pang A Genome-wide Scan Maps a Novel Juvenile-Onset Primary Open-Angle Glaucoma Locus to 15q Invest. Ophthalmol. Vis. Sci., December 1, 2006; 47(12): 5315 - 5321. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. Funayama, Y. Mashima, Y. Ohtake, K. Ishikawa, N. Fuse, N. Yasuda, T. Fukuchi, A. Murakami, Y. Hotta, N. Shimada, et al. SNPs and Interaction Analyses of Noelin 2, Myocilin, and Optineurin Genes in Japanese Patients with Open-Angle Glaucoma Invest. Ophthalmol. Vis. Sci., December 1, 2006; 47(12): 5368 - 5375. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. B. Gould, M. Reedy, L. A. Wilson, R. S. Smith, R. L. Johnson, and S. W. M. John Mutant Myocilin Nonsecretion In Vivo Is Not Sufficient To Cause Glaucoma Mol. Cell. Biol., November 15, 2006; 26(22): 8427 - 8436. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. E. Scheetz, K.-Y. A. Kim, R. E. Swiderski, A. R. Philp, T. A. Braun, K. L. Knudtson, A. M. Dorrance, G. F. DiBona, J. Huang, T. L. Casavant, et al. Regulation of gene expression in the mammalian eye and its relevance to eye disease PNAS, September 26, 2006; 103(39): 14429 - 14434. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Wu, A. W. Hewitt, C. M. Green, M. A. Ring, P. J. McCartney, J. E. Craig, and D. A. Mackey Disease Severity of Familial Glaucoma Compared With Sporadic Glaucoma Arch Ophthalmol, July 1, 2006; 124(7): 950 - 954. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. K. Abu-Amero, J. Morales, and T. M. Bosley Mitochondrial abnormalities in patients with primary open-angle glaucoma. Invest. Ophthalmol. Vis. Sci., June 1, 2006; 47(6): 2533 - 2541. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. Malyukova, H.-S. Lee, R. N. Fariss, and S. I. Tomarev Mutated Mouse and Human Myocilins Have Similar Properties and Do Not Block General Secretory Pathway Invest. Ophthalmol. Vis. Sci., January 1, 2006; 47(1): 206 - 212. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. P. Fautsch, C. K. Bahler, A. M. Vrabel, K. G. Howell, N. Loewen, W. L. Teo, E. M. Poeschla, and D. H. Johnson Perfusion of His-Tagged Eukaryotic Myocilin Increases Outflow Resistance in Human Anterior Segments in the Presence of Aqueous Humor Invest. Ophthalmol. Vis. Sci., January 1, 2006; 47(1): 213 - 221. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. J. Fan, D. Y. L. Leung, D. Y. Wang, S. Gobeil, V. Raymond, P. O. S. Tam, D. S. C. Lam, and C. P. Pang Novel Myocilin Mutation in a Chinese Family With Juvenile-Onset Open-Angle Glaucoma Arch Ophthalmol, January 1, 2006; 124(1): 102 - 106. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. C. Charlesworth, T. D. Dyer, J. M. Stankovich, J. Blangero, D. A. Mackey, J. E. Craig, C. M. Green, S. J. Foote, P. N. Baird, and M. M. Sale Linkage to 10q22 for Maximum Intraocular Pressure and 1p32 for Maximum Cup-to-Disc Ratio in an Extended Primary Open-Angle Glaucoma Pedigree Invest. Ophthalmol. Vis. Sci., October 1, 2005; 46(10): 3723 - 3729. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D P Dimasi, A W Hewitt, C M Green, D A Mackey, and J E Craig Lack of association of p53 polymorphisms and haplotypes in high and normal tension open angle glaucoma J. Med. Genet., September 1, 2005; 42(9): e55 - e55. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. Kaneda, S. Ueno, Y. Yamashita, Y. L. Choi, K. Koinuma, S. Takada, T. Wada, K. Shimada, and H. Mano Genome-Wide Screening for Target Regions of Histone Deacetylases in Cardiomyocytes Circ. Res., August 5, 2005; 97(3): 210 - 218. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. W. M. John Mechanistic Insights into Glaucoma Provided by Experimental Genetics The Cogan Lecture Invest. Ophthalmol. Vis. Sci., August 1, 2005; 46(8): 2650 - 2661. [Full Text] [PDF]
|
|
|
|
|
|
T. Aung, T. Rezaie, K. Okada, A. C. Viswanathan, A. H. Child, G. Brice, S. S. Bhattacharya, O. J. Lehmann, M. Sarfarazi, and R. A. Hitchings Clinical Features and Course of Patients with Glaucoma with the E50K Mutation in the Optineurin Gene Invest. Ophthalmol. Vis. Sci., August 1, 2005; 46(8): 2816 - 2822. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. Aung, V. H. K. Yong, P. T. K. Chew, S. K. L. Seah, G. Gazzard, P. J. Foster, and E. N. Vithana Molecular Analysis of the Myocilin Gene in Chinese Subjects with Chronic Primary-Angle Closure Glaucoma Invest. Ophthalmol. Vis. Sci., April 1, 2005; 46(4): 1303 - 1306. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Zillig, A. Wurm, F. J. Grehn, P. Russell, and E. R. Tamm Overexpression and Properties of Wild-Type and Tyr437His Mutated Myocilin in the Eyes of Transgenic Mice Invest. Ophthalmol. Vis. Sci., January 1, 2005; 46(1): 223 - 234. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. Funayama, K. Ishikawa, Y. Ohtake, T. Tanino, D. Kurosaka, I. Kimura, K. Suzuki, H. Ideta, K. Nakamoto, N. Yasuda, et al. Variants in Optineurin Gene and Their Association with Tumor Necrosis Factor-{alpha} Polymorphisms in Japanese Patients with Glaucoma Invest. Ophthalmol. Vis. Sci., December 1, 2004; 45(12): 4359 - 4367. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. B. Gould, L. Miceli-Libby, O. V. Savinova, M. Torrado, S. I. Tomarev, R. S. Smith, and S. W. M. John Genetically Increasing Myoc Expression Supports a Necessary Pathologic Role of Abnormal Proteins in Glaucoma Mol. Cell. Biol., October 15, 2004; 24(20): 9019 - 9025. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Gobeil, M.-A. Rodrigue, S. Moisan, T. D. Nguyen, J. R. Polansky, J. Morissette, and V. Raymond Intracellular Sequestration of Hetero-oligomers Formed by Wild-Type and Glaucoma-Causing Myocilin Mutants Invest. Ophthalmol. Vis. Sci., October 1, 2004; 45(10): 3560 - 3567. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
F. Ahmed, M. Torrado, R. D. Zinovieva, V. V. Senatorov, G. Wistow, and S. I. Tomarev Gene Expression Profile of the Rat Eye Iridocorneal Angle: NEIBank Expressed Sequence Tag Analysis Invest. Ophthalmol. Vis. Sci., September 1, 2004; 45(9): 3081 - 3090. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. E. Willoughby, L. L. Y. Chan, S. Herd, G. Billingsley, N. Noordeh, A. V. Levin, Y. Buys, G. Trope, M. Sarfarazi, and E. Heon Defining the Pathogenicity of Optineurin in Juvenile Open-Angle Glaucoma Invest. Ophthalmol. Vis. Sci., September 1, 2004; 45(9): 3122 - 3130. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R Melki, E Colomb, N Lefort, A P Brezin, and H-J Garchon CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma J. Med. Genet., September 1, 2004; 41(9): 647 - 651. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Obazawa, Y. Mashima, N. Sanuki, S. Noda, J. Kudoh, N. Shimizu, Y. Oguchi, Y. Tanaka, and T. Iwata Analysis of Porcine Optineurin and Myocilin Expression in Trabecular Meshwork Cells and Astrocytes from Optic Nerve Head Invest. Ophthalmol. Vis. Sci., August 1, 2004; 45(8): 2652 - 2659. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. Liu and D. Vollrath Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma Hum. Mol. Genet., June 1, 2004; 13(11): 1193 - 1204. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. Gong, O. Kosoko-Lasaki, G. R. Haynatzki, and M. R. Wilson Genetic dissection of myocilin glaucoma Hum. Mol. Genet., April 1, 2004; 13(90001): R91 - 102. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Ueda and B. Y. J. T. Yue Distribution of Myocilin and Extracellular Matrix Components in the Corneoscleral Meshwork of Human Eyes Invest. Ophthalmol. Vis. Sci., November 1, 2003; 44(11): 4772 - 4779. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. F. Leung, B. J. Fan, D. S. C. Lam, W. S. Lee, P. O. S. Tam, J. K. H. Chua, C. C. Y. Tham, J. S. M. Lai, D. S. P. Fan, and C. P. Pang Different Optineurin Mutation Pattern in Primary Open-Angle Glaucoma Invest. Ophthalmol. Vis. Sci., September 1, 2003; 44(9): 3880 - 3884. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. A. Mackey, D. L. Healey, J. H. Fingert, M. A. Coote, T. L. Wong, C. H. Wilkinson, P. J. McCartney, J. L. Rait, A. P. de Graaf, E. M. Stone, et al. Glaucoma Phenotype in Pedigrees With the Myocilin Thr377Met Mutation Arch Ophthalmol, August 1, 2003; 121(8): 1172 - 1180. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T Aung, N D Ebenezer, G Brice, A H Child, Q Prescott, O J Lehmann, R A Hitchings, and S S Bhattacharya Prevalence of optineurin sequence variants in adult primary open angle glaucoma: implications for diagnostic testing J. Med. Genet., August 1, 2003; 40(8): e101 - 101. [Full Text] [PDF]
|
|
|
|
|
|
M. Bruttini, I. Longo, P. Frezzotti, R. Ciappetta, A. Randazzo, N. Orzalesi, E. Fumagalli, A. Caporossi, R. Frezzotti, and A. Renieri Mutations in the Myocilin Gene in Families With Primary Open-angle Glaucoma and Juvenile Open-angle Glaucoma Arch Ophthalmol, July 1, 2003; 121(7): 1034 - 1038. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Goldwich, C. R. Ethier, D. W.-H. Chan, and E. R. Tamm Perfusion with the Olfactomedin Domain of Myocilin Does Not Affect Outflow Facility Invest. Ophthalmol. Vis. Sci., May 1, 2003; 44(5): 1953 - 1961. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Sohn, W. Hur, M. K. Joe, J.-H. Kim, Z.-W. Lee, K.-S. Ha, and C. Kee Expression of Wild-Type and Truncated Myocilins in Trabecular Meshwork Cells: Their Subcellular Localizations and Cytotoxicities Invest. Ophthalmol. Vis. Sci., December 1, 2002; 43(12): 3680 - 3685. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. Ishibashi, Y. Takagi, K. Mori, S. Naruse, H. Nishino, B. Y. J. T. Yue, and S. Kinoshita cDNA Microarray Analysis of Gene Expression Changes Induced by Dexamethasone in Cultured Human Trabecular Meshwork Cells Invest. Ophthalmol. Vis. Sci., December 1, 2002; 43(12): 3691 - 3697. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. P. Pang, Y. F. Leung, B. Fan, L. Baum, W. C. Tong, W. S. Lee, J. K. H. Chua, D. S. P. Fan, Y. Liu, and D. S. C. Lam TIGR/MYOC Gene Sequence Alterations in Individuals with and without Primary Open-Angle Glaucoma Invest. Ophthalmol. Vis. Sci., October 1, 2002; 43(10): 3231 - 3235. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Faucher, J.-L. Anctil, M.-A. Rodrigue, A. Duchesne, D. Bergeron, P. Blondeau, G. Cote, S. Dubois, J. Bergeron, R. Arseneault, et al. Founder TIGR/myocilin mutations for glaucoma in the Quebec population Hum. Mol. Genet., September 1, 2002; 11(18): 2077 - 2090. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
W. L. M. Alward, Y. H. Kwon, C. L. Khanna, A. T. Johnson, S. S. Hayreh, M. B. Zimmerman, J. Narkiewicz, J. L. Andorf, P. A. Moore, J. H. Fingert, et al. Variations in the Myocilin Gene in Patients With Open-Angle Glaucoma Arch Ophthalmol, September 1, 2002; 120(9): 1189 - 1197. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
R. K. Parrish II When Does Information Become Medically Useful?: The Role of Genetic Testing in Glaucoma Arch Ophthalmol, September 1, 2002; 120(9): 1204 - 1205. [Full Text] [PDF]
|
|
|
|
|
|
M G Wirth, I M Russell-Eggitt, J E Craig, J E Elder, and D A Mackey Aetiology of congenital and paediatric cataract in an Australian population Br J Ophthalmol, July 1, 2002; 86(7): 782 - 786. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Torrado, R. Trivedi, R. Zinovieva, I. Karavanova, and S. I. Tomarev Optimedin: a novel olfactomedin-related protein that interacts with myocilin Hum. Mol. Genet., May 16, 2002; 11(11): 1291 - 1301. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Ueda, K. Wentz-Hunter, and B. Y. J. T. Yue Distribution of Myocilin and Extracellular Matrix Components in the Juxtacanalicular Tissue of Human Eyes Invest. Ophthalmol. Vis. Sci., April 1, 2002; 43(4): 1068 - 1076. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C J Cobb, G Scott, R J Swingler, S Wilson, J Ellis, C J MacEwen, and W H I McLean Rapid mutation detection by the Transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma Br J Ophthalmol, February 1, 2002; 86(2): 191 - 195. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
F. Ahmed, M. Torrado, E. Johnson, J. Morrison, and S. I. Tomarev Changes in mRNA Levels of the Myoc/Tigr Gene in the Rat Eye after Experimental Elevation of Intraocular Pressure or Optic Nerve Transection Invest. Ophthalmol. Vis. Sci., December 1, 2001; 42(13): 3165 - 3172. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. R. Shepard, N. Jacobson, J. H. Fingert, E. M. Stone, V. C. Sheffield, and A. F. Clark Delayed Secondary Glucocorticoid Responsiveness of MYOC in Human Trabecular Meshwork Cells Invest. Ophthalmol. Vis. Sci., December 1, 2001; 42(13): 3173 - 3181. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. L. Wiggs and D. Vollrath Molecular and Clinical Evaluation of a Patient Hemizygous for TIGR/MYOC Arch Ophthalmol, November 1, 2001; 119(11): 1674 - 1678. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. F. Clark, H. T. Steely, J. E. Dickerson Jr, S. English-Wright, K. Stropki, M. D. McCartney, N. Jacobson, A. R. Shepard, J. I. Clark, H. Matsushima, et al. Glucocorticoid Induction of the Glaucoma Gene MYOC in Human and Monkey Trabecular Meshwork Cells and Tissues Invest. Ophthalmol. Vis. Sci., July 1, 2001; 42(8): 1769 - 1780. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. A. Donoso, A. T. Frost, E. M. Stone, R. G. Weleber, I. M. MacDonald, G. S. Hageman, G. W. Cibis, R. Ritter III, and A. O. Edwards Autosomal Dominant Stargardt-like Macular Dystrophy: Founder Effect and Reassessment of Genetic Heterogeneity Arch Ophthalmol, April 1, 2001; 119(4): 564 - 570. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
N. Jacobson, M. Andrews, A. R. Shepard, D. Nishimura, C. Searby, J. H. Fingert, G. Hageman, R. Mullins, B. L. Davidson, Y. H. Kwon, et al. Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor Hum. Mol. Genet., January 1, 2001; 10(2): 117 - 125. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. H. Fingert, A. F. Clark, J. E. Craig, W. L. M. Alward, G. R. Snibson, M. McLaughlin, L. Tuttle, D. A. Mackey, V. C. Sheffield, and E. M. Stone Evaluation of the Myocilin (MYOC) Glaucoma Gene in Monkey and Human Steroid-Induced Ocular Hypertension Invest. Ophthalmol. Vis. Sci., January 1, 2001; 42(1): 145 - 152. [Abstract] [Full Text]
|
|
|
|
|
|
E. T. O’Brien, X.-o. Ren, and Y. Wang Localization of Myocilin to the Golgi Apparatus in Schlemm's Canal Cells Invest. Ophthalmol. Vis. Sci., November 1, 2000; 41(12): 3842 - 3849. [Abstract] [Full Text]
|
|
|
|
|
|
R. E. Swiderski, J. L. Ross, J. H. Fingert, A. F. Clark, W. L. M. Alward, E. M. Stone, and V. C. Sheffield Localization of MYOC Transcripts in Human Eye and Optic Nerve by In Situ Hybridization Invest. Ophthalmol. Vis. Sci., October 1, 2000; 41(11): 3420 - 3428. [Abstract] [Full Text]
|
|
|
|
|
|
R. SUZUKI, Y. HATTORI, and K. OKANO Promoter mutations of myocilin gene in Japanese patients with open angle glaucoma including normal tension glaucoma Br J Ophthalmol, September 1, 2000; 84(9): 1075c - 1075. [Full Text]
|
|
|
|
|
|
A. I. McNaught, J. G. Allen, D. L. Healey, P. J. McCartney, M. A. Coote, T. L. Wong, J. E. Craig, C. M. Green, J. L. Rait, and D. A. Mackey Accuracy and Implications of a Reported Family History of Glaucoma: Experience From the Glaucoma Inheritance Study in Tasmania Arch Ophthalmol, July 1, 2000; 118(7): 900 - 904. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. S. C. Lam, Y. F. Leung, J. K. H. Chua, L. Baum, D. S. P. Fan, K. W. Choy, and C. P. Pang Truncations in the TIGR Gene in Individuals with and without Primary Open-Angle Glaucoma Invest. Ophthalmol. Vis. Sci., May 1, 2000; 41(6): 1386 - 1391. [Abstract] [Full Text]
|
|