Open angle glaucoma 1L is an autosomal dominant disorder that is caused by mutations of the MYOC gene.
1. |
Zillig M et al. (2005) Overexpression and properties of wild-type and Tyr437His mutated myocilin in the eyes of transgenic mice. |
2. |
Yoon SJ et al. (1999) Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea. |
3. |
Craig JE et al. (2001) Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier. |
4. |
Wiggs JL et al. (2001) Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC. |
5. |
CROMBIE AL et al. (1964) HEREDITARY GLAUCOMA OCCURRENCE IN FIVE GENERATIONS OF AN EDINBURGH FAMILY. |
6. |
None (1965) THE INHERITANCE OF GLAUCOMA. A PEDIGREE OF FAMILIAL GLAUCOMA. |
7. |
Sripriya S et al. (2004) Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients. |
8. |
Wiggs JL et al. (2004) A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12. |
9. |
Gould DB et al. (2004) Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma. |
10. |
Vincent AL et al. (2002) Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. |
11. |
Baird PN et al. (2005) Evidence for a novel glaucoma locus at chromosome 3p21-22. |
12. |
Gould DB et al. (2006) Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma. |
13. |
Hewitt AW et al. (2007) The optic nerve head in myocilin glaucoma. |
14. |
Shepard AR et al. (2007) Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure. |
15. |
Wirtz MK et al. (2007) Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma. |
16. |
Bhattacharjee A et al. (2007) Myocilin variants in Indian patients with open-angle glaucoma. |
17. |
Kwon YH et al. (2009) Primary open-angle glaucoma. |
18. |
Brézin AP et al. (1997) Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy. |
19. |
Alward WL et al. (1998) Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) |
20. |
Lotufo D et al. (1989) Juvenile glaucoma, race, and refraction. |
21. |
Graff C et al. (1995) Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity. |
22. |
Morissette J et al. (1995) A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q. |
23. |
Wiggs JL et al. (1994) Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees. |
24. |
Richards JE et al. (1994) Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq. |
25. |
Johnson AT et al. (1993) Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma. |
26. |
Sheffield VC et al. (1993) Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. |
27. |
Wiggs JL et al. (1996) The distinction between juvenile and adult-onset primary open-angle glaucoma. |
28. |
Johnson AT et al. (1996) Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1q. |
29. |
Richards JE et al. (1996) Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma. |
30. |
None (1996) Number of people with glaucoma worldwide. |
31. |
Stone EM et al. (1997) Identification of a gene that causes primary open angle glaucoma. |
32. |
Wiggs JL et al. (1995) Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31. |
33. |
Belmouden A et al. (1997) Recombinational and physical mapping of the locus for primary open-angle glaucoma (GLC1A) on chromosome 1q23-q25. |
34. |
None (1998) The search for glaucoma genes--implications for pathogenesis and disease detection. |
35. |
OMIM.ORG article Omim 137750 |