Modifikatoren der Glaukomausprägung
In der Gruppe der Glaukommodifikatoren werden Gene zusammengefasst, deren Mutation selbst kein Glaukom auslösen kann, aber bestimmte Variationen in diesen Genen können die klinische Ausprägung beeinflussen.
Gliederung
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Referenzen:
1. |
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. [^] |
2. |
Huebner K et. al. (1992) Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21 --> q22. [^] |
3. |
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. [^] |
4. |
Rehn M et. al. (1994) Primary structure of the alpha 1 chain of mouse type XVIII collagen, partial structure of the corresponding gene, and comparison of the alpha 1(XVIII) chain with its homologue, the alpha 1(XV) collagen chain. [^] |
5. |
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. [^] |
6. |
Myers JC et. al. (1996) Type XV collagen exhibits a widespread distribution in human tissues but a distinct localization in basement membrane zones. [^] |
7. |
Hägg PM et. al. (1997) Location of type XV collagen in human tissues and its accumulation in the interstitial matrix of the fibrotic kidney. [^] |
8. |
Hägg PM et. al. (1997) Cloning of mouse type XV collagen sequences and mapping of the corresponding gene to 4B1-3. Comparison of mouse and human alpha 1 (XV) collagen sequences indicates divergence in the number of small collagenous domains. [^] |
9. |
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. [^] |
10. |
Ramchandran R et. al. (1999) Antiangiogenic activity of restin, NC10 domain of human collagen XV: comparison to endostatin. [^] |
11. |
Sasaki T et. al. (2000) Endostatins derived from collagens XV and XVIII differ in structural and binding properties, tissue distribution and anti-angiogenic activity. [^] |
12. |
Eklund L et. al. (2001) Lack of type XV collagen causes a skeletal myopathy and cardiovascular defects in mice. [^] |
13. |
Rasi K et. al. (2010) Collagen XV is necessary for modeling of the extracellular matrix and its deficiency predisposes to cardiomyopathy. [^] |
14. |
Connelly JJ et. al. (2013) Epigenetic regulation of COL15A1 in smooth muscle cell replicative aging and atherosclerosis. [^] |
15. |
Menzel O et. al. (2004) Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. [^] |
16. |
Utriainen A et. al. (2004) Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line. [^] |
17. |
Suzuki OT et. al. (2005) How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome? [^] |
18. |
Keren B et. al. (2007) CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. [^] |
19. |
Shi H et. al. (2007) Nucleolin is a receptor that mediates antiangiogenic and antitumor activity of endostatin. [^] |
20. |
Khaliq S et. al. (2007) Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2. [^] |
21. |
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. [^] |
22. |
Mahajan VB et. al. (2010) Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia. [^] |
23. |
Joyce S et. al. (2010) Locus heterogeneity and Knobloch syndrome. [^] |
24. |
Najmabadi H et. al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders. [^] |
25. |
Aldahmesh MA et. al. (2013) No evidence for locus heterogeneity in Knobloch syndrome. [^] |
26. |
Wiggs JL et. al. (2013) Variations in COL15A1 and COL18A1 influence age of onset of primary open angle glaucoma. [^] |