Komplement-Rezeptor Typ 1
Vom CR1-Gen wird der Komplement-Rezeptor Typ 1 kodiert, der aktiviertes Komplement C3b und C4b zu binden vermag. Der Mangel besitzt eine Bedeutung für die Entwicklung einer MPGN und besitzt einen Einfluss auf den Verlauf verschiedener Infektionskrankheiten wie Malaria. Auch eine Assoziation mit Autoimmunerkrankungen wie Lupus erythematodes wird diskutiert.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Rowe JA et al. (1997) P. falciparum rosetting mediated by a parasite-variant erythrocyte membrane protein and complement-receptor 1.
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2. |
van de Sande WW et al. (2007) Polymorphisms in genes involved in innate immunity predispose toward mycetoma susceptibility.
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3. |
Fairweather D et al. (2006) Complement receptor 1 and 2 deficiency increases coxsackievirus B3-induced myocarditis, dilated cardiomyopathy, and heart failure by increasing macrophages, IL-1beta, and immune complex deposition in the heart.
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4. |
Nath SK et al. (2005) Polymorphisms of complement receptor 1 and interleukin-10 genes and systemic lupus erythematosus: a meta-analysis.
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5. |
None (1953) The immune-adherence phenomenon; an immunologically specific reaction between microorganisms and erythrocytes leading to enhanced phagocytosis.
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6. |
Smith BO et al. (2002) Structure of the C3b binding site of CR1 (CD35), the immune adherence receptor.
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7. |
Józsi M et al. (2002) Complement receptor type 1 (CD35) mediates inhibitory signals in human B lymphocytes.
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8. |
Wilson JG et al. (1982) Mode of inheritance of decreased C3b receptors on erythrocytes of patients with systemic lupus erythematosus.
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9. |
Iida K et al. (1982) Complement receptor (CR1) deficiency in erythrocytes from patients with systemic lupus erythematosus.
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10. |
Dykman TR et al. (1983) Polymorphism of human erythrocyte C3b/C4b receptor.
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11. |
Dykman TR et al. (1984) Polymorphism of the human C3b/C4b receptor. Identification of a third allele and analysis of receptor phenotypes in families and patients with systemic lupus erythematosus.
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12. |
Dykman TR et al. (1983) Structural heterogeneity of the C3b/C4b receptor (Cr 1) on human peripheral blood cells.
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13. |
Gerdes J et al. (1982) Ultrastructural localization of human complement C3b receptors in the human kidney as determined by immunoperoxidase staining with the monoclonal antibody C3RTo5.
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14. |
Miyakawa Y et al. (1981) Defective immune-adherence (C3b) receptor on erythrocytes from patients with systemic lupus erythematosus.
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15. |
Wilson JG et al. (1985) Autoantibody to the C3b/C4b receptor and absence of this receptor from erythrocytes of a patient with systemic lupus erythematosus.
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16. |
Rodriguez de Cordoba S et al. (1985) Human genes for three complement components that regulate the activation of C3 are tightly linked.
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17. |
Ohi H et al. (1986) Two cases of mesangiocapillary glomerulonephritis with CR1 deficiency.
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18. |
Moulds JM et al. (2000) Blood group associations with parasites, bacteria, and viruses.
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19. |
Cockburn IA et al. (2004) A human complement receptor 1 polymorphism that reduces Plasmodium falciparum rosetting confers protection against severe malaria.
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20. |
Tham WH et al. (2010) Complement receptor 1 is the host erythrocyte receptor for Plasmodium falciparum PfRh4 invasion ligand.
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21. |
Xiang L et al. (1999) Quantitative alleles of CR1: coding sequence analysis and comparison of haplotypes in two ethnic groups.
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22. |
Wong WW et al. (1989) Structure of the human CR1 gene. Molecular basis of the structural and quantitative polymorphisms and identification of a new CR1-like allele.
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23. |
Wong WW et al. (1985) Identification of a partial cDNA clone for the human receptor for complement fragments C3b/C4b.
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24. |
Moldenhauer F et al. (1987) Inherited deficiency of erythrocyte complement receptor type 1 does not cause susceptibility to systemic lupus erythematosus.
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25. |
Wilson JG et al. (1987) CR1 and the cell membrane proteins that bind C3 and C4. A basic and clinical review.
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26. |
Hing S et al. (1988) Assignment of complement components C4 binding protein (C4BP) and factor H (FH) to human chromosome 1q, using cDNA probes.
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27. |
Wilson JG et al. (1986) Identification of a restriction fragment length polymorphism by a CR1 cDNA that correlates with the number of CR1 on erythrocytes.
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28. |
Holers VM et al. (1987) Human complement C3b/C4b receptor (CR1) mRNA polymorphism that correlates with the CR1 allelic molecular weight polymorphism.
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29. |
Weis JH et al. (1987) A complement receptor locus: genes encoding C3b/C4b receptor and C3d/Epstein-Barr virus receptor map to 1q32.
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30. |
OMIM.ORG article
Omim 120620
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31. |
NCBI article
NCBI 1378
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32. |
Wikipedia Artikel
Wikipedia DE (Komplementrezeptor_1)
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Update: 14. August 2020