Kollagen Typ XV, alpha 1
Das COL15A1-Gen kodiert ein Kollagen, welches ähnlich dem Kollagen IV aufgebaut ist und ebenso wie dieses in den Basalmembranen vorkommt. Mutationen können die klinische Ausprägung von Glaukomen beeinflussen.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Huebner K et al. (1992) Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21 --> q22.
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2. |
Connelly JJ et al. (2013) Epigenetic regulation of COL15A1 in smooth muscle cell replicative aging and atherosclerosis.
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3. |
Rasi K et al. (2010) Collagen XV is necessary for modeling of the extracellular matrix and its deficiency predisposes to cardiomyopathy.
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4. |
Eklund L et al. (2001) Lack of type XV collagen causes a skeletal myopathy and cardiovascular defects in mice.
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5. |
Sasaki T et al. (2000) Endostatins derived from collagens XV and XVIII differ in structural and binding properties, tissue distribution and anti-angiogenic activity.
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6. |
Ramchandran R et al. (1999) Antiangiogenic activity of restin, NC10 domain of human collagen XV: comparison to endostatin.
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7. |
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.
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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.
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9. |
Hägg PM et al. (1997) Location of type XV collagen in human tissues and its accumulation in the interstitial matrix of the fibrotic kidney.
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10. |
Myers JC et al. (1996) Type XV collagen exhibits a widespread distribution in human tissues but a distinct localization in basement membrane zones.
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11. |
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.
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12. |
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.
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13. |
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.
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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.
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15. |
NCBI article
NCBI 1306
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16. |
OMIM.ORG article
Omim 120325
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17. |
Wikipedia Artikel
Wikipedia DE (COL15A1)
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Update: 14. August 2020