Genetic basis of glaucoma

Current Opinion in Ophthalmology

Volumn 13, Issue 2, 2002, Pages 55-60

  WuDunn, Darrell ^a  

^a INDIANA UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT;

ANTERIOR EYE SEGMENT; CONGENITAL GLAUCOMA; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENETICS; GLAUCOMA; HUMAN; MOLECULAR GENETICS; MOLECULAR MECHANICS; ONSET AGE; OPEN ANGLE GLAUCOMA; PRIORITY JOURNAL; PROTEIN PROCESSING; REVIEW; RIEGER SYNDROME;

ARYL HYDROCARBON HYDROXYLASES; CYTOCHROME P-450 ENZYME SYSTEM; CYTOSKELETAL PROTEINS; DNA-BINDING PROTEINS; EYE PROTEINS; FORKHEAD TRANSCRIPTION FACTORS; GENETIC TECHNIQUES; GLAUCOMA; GLYCOPROTEINS; HOMEODOMAIN PROTEINS; HUMANS; MOLECULAR BIOLOGY; NUCLEAR PROTEINS; TRANSCRIPTION FACTORS;

EID: 0036201576     PISSN: 10408738     EISSN: None     Source Type: Journal    
DOI: 10.1097/00055735-200204000-00001     Document Type: Review

References (66)

1. The sixth annual optic nerve rescue and regeneration think tank: Developmental genetics in glaucoma
2. Rieger syndrome: A clinical, molecular, and biochemical analysis
3. Identification of a dominant negative homeodomain mutation in Rieger syndrome
4. Rieger syndrome is associated with PAX6 deletion
5. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly
6. Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma
7. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye
8. 'Forkhead' gene expression balanced on a knife-edge
9. Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR
10. Roles of cytochrome p450 in development
11. Primary congenital glaucoma: Three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene
12. Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree
13. Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q
14. Identification and expression of a novel type I procollagen C-proteinase enhancer protein gene from the glaucoma candidate region on 3q21-q24
15. Patterns of open-angle glaucoma in the Barbados Family Study
16. Inheritance of open-angle glaucoma in the Barbados Family Study
17. Risk factors for open-angle glaucoma. The Barbados Eye Study
18. Polymorphic glutathione S-transferase M1 is a risk factor of primary open-angle glaucoma among Estonians
19. A novel gene (oculomedin) induced by mechanical stretching in human trabecular cells of the eye
20. Regulation of trabecular meshwork contractility
21. Absence of trabecular meshwork-inducible stretch response (TISR)/oculomedin gene and proximal promoter mutation in primary open angle glaucoma patients
22. Altered gene expression in lymphocytes of patients with normal-tension glaucoma
23. Exfoliation syndrome
24. Epidemiology of glaucoma in northern Europe
25. Pseudoexfoliation syndrome in Icelandic families
26. Familial occurrence of pseudoexfoliation in Canada
27. Prevalence of pigment dispersion syndrome in a population undergoing glaucoma screening
28. Current concepts in pigmentary glaucoma
29. Inheritance and the pigmentary dispersion syndrome
30. A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36
31. Identification and genetic analysis of pigmentary glaucoma loci on 7q36 and 18q
32. Familial occurrence of pigment dispersion syndrome
33. Heritage characteristics reported by a group of African-Americans who exhibit the pigment dispersion syndrome: A case-control study
34. Association of demographic, familial, medical, and ocular factors with intraocular pressure
35. Intraocular pressure in an American community. The Beaver Dam Eye Study
36. Associations with intraocular pressure in the Barbados Eye Study
37. Activation of a tissue-specific stress response in the aqueous outflow pathway of the eye defines the glaucoma disease phenotype
38. The role of myocilin/TIGR in glaucoma: Results of the Glaucoma Research Foundation catalyzt meeting in Berkeley, California, March 2000
39. Glucocorticoid effects on HTM cells: Molecular biology approaches
40. Identification of a gene that causes primary open angle glaucoma
41. Ultrastructural localization of myocilin in human trabecular meshwork cells and tissues
42. Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues
43. Immunohistochemical localization of MYOC/TIGR protein in the trabecular tissue of normal and glaucomatous eyes
44. Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells
45. TIGR/myocilin in human aqueous humor
46. Characterization of myocilin-myocilin interactions
47. Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor
48. The presence and properties of myocilin in the aqueous humor
49. A cellular assay distinguishes normal and mutant TIGR/myocilin protein
50. Recombinant TIGR/MYOC increases outflow resistance in the human anterior segment
51. Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product
52. Cloning and characterization of subtracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin
53. A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: Molecular cloning, tissue expression, and chromosomal mapping
54. Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization
55. Expression of the glaucoma gene myocilin (MYOC) in the human optic nerve head
56. Localization of myocilin/trabecular meshwork-inducible glucocorticoid response protein in the human eye
57. Myocilin expression in the astrocytes of the optic nerve head
58. Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension
59. Altered secretion of a TIGR/MYOC mutant lacking the olfactomedin domain
60. Inefficient processing of an olfactomedin-deficient myocilin mutant: Potential physiologic relevance to glaucoma
61. Novel mutations in the myocilin gene in Japanese glaucoma patients
62. A sequence change (Arg158Gln) in the leucine zipper-like motif region of the MYOC/TIGR protein
63. Analysis of myocilin gene mutations in Japanese patients with normal tension glaucoma and primary open-angle glaucoma
64. Promoter mutations of myocilin gene in Japanese patients with open angle glaucoma including normal tension glaucoma
65. Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier
66. The Taa1 restriction enzyme provides a simple means to identify the Q368STOP mutation of the myocilin gene in primary open angle glaucoma