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1. Introduction
2. Disclosures
3. Complement biology and genetics
4. Complement genetic variability
5. Inherited complement-related diseases
6. Complement is a major player in several diseases
7. Genotype-phenotype correlations (factor H)
8. Disease-associated complement genetic variants
9. aHUS: mutations in the C-terminus of FH
10. CFH mutations and C3G
11. The mechanism of C3G
12. Distinct FH mutations in C3G and aHUS
13. Genotype-phenotype correlations (aHUS)
14. aHUS: risk factors and pathogenic mechanism (1)
15. aHUS: risk factors and pathogenic mechanism (2)
16. Gain-of-function mutations
17. C3 genotype-phenotype correlations
18. Age-related macular degeneration (AMD)
19. Complement dysregulation in AMD
20. Complotype: combined C3, fB and fH variants
21. Complotypes, infection and inflammation
22. Opposing roles of CFH-CFHRs polymorphisms
23. Concurrence of multiple risk factors
24. Complex rearrangements of complement genes
25. The CFH-CFHRs locus
26. ΔCFHR3-CFHR1 protects from AMD
27. The CFH/CFHRs region and aHUS
28. Exchanging C-terminal regions FH and FHR-1
29. Gain of function CFHRs mutations cause C3G
30. “Misleading” complement regulation
31. Complement genetic testing
32. Understanding genetic variants
33. Allele frequencies of gene variants
34. In silico analysis of novel variants
35. The importance of the functional analyses
36. Conclusions
37. Thank you

Topics Covered

• Inherited complement-related diseases
• Complement genetic variability
• Genotype-phenotype correlations
• Complement dysregulation in age-related macular degeneration (AMD)
• The complotype
• Complex rearrangements of complement genes
• Complement genetic testing

Links

Series:

• The Complement System

Categories:

• Cell Biology
• Diseases, Disorders, & Treatments
• Genetics & Epigenetics
• Immunology

Therapeutic Areas:

• Immunology & Inflammation
• Ophthalmology

Talk Citation

Rodríguez de Córdoba, S. (2018, June 28). Physiopathological implications of genetic variability in the complement alternative pathway [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved September 20, 2018, from https://hstalks.com/bs/3765/.

Talk Information

• Published on June 28, 2018