Glaucoma modifiers in this group genes are summarized that may have an impact on the clinical presentation of a glaucoma be it hereditary or acquired.
Hereditary glaucoma | ||||
Axenfeld-Rieger Anomaly | ||||
Modifiers of clinical glaucoma presentation | ||||
COL15A1 | ||||
COL18A1 | ||||
Nail-patella syndrome | ||||
OPA1 | ||||
Open angle glaucoma 1 | ||||
Open angle glaucoma 3 | ||||
1. |
Connelly JJ et al. (2013) Epigenetic regulation of COL15A1 in smooth muscle cell replicative aging and atherosclerosis. |
2. |
Wiggs JL et al. (2013) Variations in COL15A1 and COL18A1 influence age of onset of primary open angle glaucoma. |
3. |
Aldahmesh MA et al. (2013) No evidence for locus heterogeneity in Knobloch syndrome. |
4. |
Joyce S et al. (2010) Locus heterogeneity and Knobloch syndrome. |
5. |
Mahajan VB et al. (2010) Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia. |
6. |
Paisán-Ruiz C et al. (2009) Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder. |
7. |
Khaliq S et al. (2007) Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2. |
8. |
Shi H et al. (2007) Nucleolin is a receptor that mediates antiangiogenic and antitumor activity of endostatin. |
9. |
Keren B et al. (2007) CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. |
10. |
Suzuki OT et al. (2005) How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome? |
11. |
Utriainen A et al. (2004) Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line. |
12. |
Menzel O et al. (2004) Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. |
13. |
Najmabadi H et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders. |
14. |
Myers JC et al. (1992) Identification of a previously unknown human collagen chain, alpha 1(XV), characterized by extensive interruptions in the triple-helical region. |
15. |
Rasi K et al. (2010) Collagen XV is necessary for modeling of the extracellular matrix and its deficiency predisposes to cardiomyopathy. |
16. |
Eklund L et al. (2001) Lack of type XV collagen causes a skeletal myopathy and cardiovascular defects in mice. |
17. |
Sasaki T et al. (2000) Endostatins derived from collagens XV and XVIII differ in structural and binding properties, tissue distribution and anti-angiogenic activity. |
18. |
Ramchandran R et al. (1999) Antiangiogenic activity of restin, NC10 domain of human collagen XV: comparison to endostatin. |
19. |
Hägg PM et al. (1998) Complete exon-intron organization of the human gene for the alpha1 chain of type XV collagen (COL15A1) and comparison with the homologous COL18A1 gene. |
21. |
Hägg PM et al. (1997) Location of type XV collagen in human tissues and its accumulation in the interstitial matrix of the fibrotic kidney. |
22. |
Myers JC et al. (1996) Type XV collagen exhibits a widespread distribution in human tissues but a distinct localization in basement membrane zones. |
23. |
Muragaki Y et al. (1994) The human alpha 1(XV) collagen chain contains a large amino-terminal non-triple helical domain with a tandem repeat structure and homology to alpha 1(XVIII) collagen. |
25. |
Kivirikko S et al. (1994) Primary structure of the alpha 1 chain of human type XV collagen and exon-intron organization in the 3' region of the corresponding gene. |
26. |
Huebner K et al. (1992) Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21 --> q22. |
27. |
OMIM.ORG article Omim 120328 |