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1 to 25 of 117  Show
  1. 1
    "NEDO human cDNA sequencing project focused on splicing variants."
    Wakamatsu A., Yamamoto J., Kimura K., Ishii S., Watanabe K., Sugiyama A., Murakawa K., Kaida T., Tsuchiya K., Fukuzumi Y., Kumagai A., Oishi Y., Yamamoto S., Ono Y., Komori Y., Yamazaki M., Kisu Y., Nishikawa T.
    Isogai T.
    Submitted (OCT-2007) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE.
    Category: Sequences.
    Tissue: Trachea.
    Source: UniProtKB/TrEMBL (unreviewed).
  2. 2
    "Allelic distribution of complement components BF, C4A, C4B, and C3 in Psoriasis vulgaris."
    Cislo M., Halasa J., Wasik F., Nockowski P., Prussak M., Manczak M., Kusnierczyk P.
    Immunol. Lett. 80:145-149(2002) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Allelic distribution of complement components BF C4A C4B and C3 in Psoriasis vulgaris.
    Source: GeneRIF:629.

    This publication is mapped to 28 other entries.

  3. 3
    "Phenotype and allele frequencies of some serum protein polymorphisms in populations of the Balkans."
    Scheil H.G., Schmidt H.D., Efremovska L., Mikerezi I., Huckenbeck W.
    Anthropol Anz 62:429-434(2004) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Observational study of genotype prevalence. (HuGE Navigator).
    Source: GeneRIF:629.

    This publication is mapped to 41 other entries.

  4. 4
    "Does complement factor B have a role in the pathogenesis of atypical HUS?"
    Kavanagh D., Kemp E.J., Richards A., Burgess R.M., Mayland E., Goodship J.A., Goodship T.H.
    Mol. Immunol. 43:856-859(2006) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: No factor B gene (BF) mutations were found in 20 patients with haemolytic uraemic syndrome.
    Source: GeneRIF:629.

    This publication is mapped to 10 other entries.

  5. 5
    "The role of properdin in the assembly of the alternative pathway C3 convertases of complement."
    Hourcade D.E.
    J. Biol. Chem. 281:2128-2132(2006) [PubMed] [Europe PMC] [Abstract]
    Category: Interaction.
    Annotation: properdin has a role in the assembly of the alternative pathway C3 convertases of complement.
    Source: GeneRIF:629.

    This publication is mapped to 15 other entries.

  6. 6
    "Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration."
    Gold B., Merriam J.E., Zernant J., Hancox L.S., Taiber A.J., Gehrs K., Cramer K., Neel J., Bergeron J., Barile G.R., Smith R.T., Hageman G.S., Dean M., Allikmets R.
    Nat. Genet. 38:458-462(2006) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Associated with VISION: macular degeneration. [GAD:145395]. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator). [GeneRIF:629].
    Source: GeneRIF:629, GAD:145395.

    This publication is cited by 1 and mapped to 25 other entries.

  7. 7
    "Factor B structure provides insights into activation of the central protease of the complement system."
    Milder F.J., Gomes L., Schouten A., Janssen B.J., Huizinga E.G., Romijn R.A., Hemrika W., Roos A., Daha M.R., Gros P.
    Nat. Struct. Mol. Biol. 14:224-228(2007) [PubMed] [Europe PMC] [Abstract]
    Category: Structure.
    Annotation: The crystal structure of human factor B is presented at 2.3-A resolution which reveals how the five-domain proenzyme is kept securely inactive.
    Source: GeneRIF:629.

    This publication is mapped to 9 other entries.

  8. 8
    "A 24-residue presequence localizes human factor B to mitochondria."
    Belogrudov G.I.
    Arch. Biochem. Biophys. 461:95-103(2007) [PubMed] [Europe PMC] [Abstract]
    Category: Subcellular Location.
    Annotation: Information contained within the first 24 amino acid residues of human factor B precursor is sufficient for importing the 199-residue factor B polypeptide into the mitochondria.
    Source: GeneRIF:629.

    This publication is mapped to 10 other entries.

  9. 9
    "Structure-based mapping of DAF active site residues that accelerate the decay of C3 convertases."
    Kuttner-Kondo L., Hourcade D.E., Anderson V.E., Muqim N., Mitchell L., Soares D.C., Barlow P.N., Medof M.E.
    J. Biol. Chem. 282:18552-18562(2007) [PubMed] [Europe PMC] [Abstract]
    Category: Structure.
    Annotation: DAF active site residues accelerate the decay of C3 convertases.
    Source: GeneRIF:629.

    This publication is mapped to 10 other entries.

  10. 10
    "Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration."
    Spencer K.L., Hauser M.A., Olson L.M., Schmidt S., Scott W.K., Gallins P., Agarwal A., Postel E.A., Pericak-Vance M.A., Haines J.L.
    Hum. Mol. Genet. 16:1986-1992(2007) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: complement factor B was significantly associated with protection from AMD in the family-based data set (P = 0.025).
    Source: GeneRIF:629.

    This publication is mapped to 27 other entries.

  11. 11
    "Variation in complement factor 3 is associated with risk of age-related macular degeneration."
    Maller J.B., Fagerness J.A., Reynolds R.C., Neale B.M., Daly M.J., Seddon J.M.
    Nat. Genet. 39:1200-1201(2007) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:629.

    This publication is mapped to 22 other entries.

  12. 12
    "Activator-specific requirement of properdin in the initiation and amplification of the alternative pathway complement."
    Kimura Y., Miwa T., Zhou L., Song W.C.
    Blood 111:732-740(2008) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: a novel role of properdin in AP complement initiation and have implications for understanding the selective predisposition of properdin-deficient patients to meningococcal infection.
    Source: GeneRIF:629.

    This publication is mapped to 37 other entries.

  13. 13
    "Profiling the enzymatic properties and inhibition of human complement factor B."
    Le G.T., Abbenante G., Fairlie D.P.
    J. Biol. Chem. 282:34809-34816(2007) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: biochemical analysis of the enzymatic properties and inhibition of human complement factor B.
    Source: GeneRIF:629.

    This publication is mapped to 10 other entries.

  14. 14
    "Preimplantation embryos cooperate with oviductal cells to produce embryotrophic inactivated complement-3b."
    Tse P.K., Lee Y.L., Chow W.N., Luk J.M., Lee K.F., Yeung W.S.
    Endocrinology 149:1268-1276(2008) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Human oviduct possesses C3 convertase activity converting C3 to C3b and Crry of the preimplantation embryos may be involved in the production of embryotrophic iC3b on the surface of the embryos.
    Source: GeneRIF:629.

    This publication is mapped to 20 other entries.

  15. 15
    "The tick-over theory revisited: formation and regulation of the soluble alternative complement C3 convertase (C3(H2O)Bb)."
    Bexborn F., Andersson P.O., Chen H., Nilsson B., Ekdahl K.N.
    Mol. Immunol. 45:2370-2379(2008) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: The formation of the fluid-phase alternative pathway convertases C3(H(2)O)Bb and C3bBb and their regulation by factor H and factor I at specific time points was studied.
    Source: GeneRIF:629.

    This publication is mapped to 10 other entries.

  16. 16
    Category: Pathology & Biotech, Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:629.

    This publication is mapped to 24 other entries.

  17. 17
    "C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes."
    Jakobsdottir J., Conley Y.P., Weeks D.E., Ferrell R.E., Gorin M.B.
    PLoS ONE 3:e2199-e2199(2008) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator); C2/CFB significantly influences AMD susceptibility and although accounting for effects at this locus does not dramatically increase the overall accuracy of the genetic risk model the improvement over the CFH-LOC387715 model is statistically significant.
    Source: GeneRIF:629.

    This publication is mapped to 36 other entries.

  18. 18
    Category: Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:629.

    This publication is mapped to 17 other entries.

  19. 19
    "Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy."
    Lee K.Y., Vithana E.N., Mathur R., Yong V.H., Yeo I.Y., Thalamuthu A., Lee M.W., Koh A.H., Lim M.C., How A.C., Wong D.W., Aung T.
    Invest. Ophthalmol. Vis. Sci. 49:2613-2619(2008) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator); The SNPs rs3753394 and rs800292 of CFH and rs11200638 of HTRA1 are significantly associated with the risk of PCV (polypoidal choroidal vasculopathy) in Chinese patients.
    Source: GeneRIF:629.

    This publication is mapped to 40 other entries.

  20. 20
    "Analysis of rare variants in the complement component 2 (C2) and factor B (BF) genes refine association for age-related macular degeneration (AMD)."
    Richardson A.J., Islam F.M., Guymer R.H., Baird P.N.
    Invest. Ophthalmol. Vis. Sci. 50:540-543(2009) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: In this study the association of the IVS10 and R32Q variants in the C2 and BF genes in AMD was replicated. Haplotype analysis indicated association of these variants with AMD in an Australian population; Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:629.

    This publication is mapped to 27 other entries.

  21. 21
    "Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration."
    McKay G.J., Silvestri G., Patterson C.C., Hogg R.E., Chakravarthy U., Hughes A.E.
    Invest. Ophthalmol. Vis. Sci. 50:533-539(2009) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Because of the high level of linkage disequilibrium within the extended CC2/CFB region variation within SKIV2L may exert a functional effect in age-related macular degeneration; Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:629.

    This publication is mapped to 34 other entries.

  22. 22
    "Complement activation fragment Bb in early pregnancy and spontaneous preterm birth."
    Lynch A.M., Gibbs R.S., Murphy J.R., Byers T., Neville M.C., Giclas P.C., Salmon J.E., Van Hecke T.M., Holers V.M.
    Am. J. Obstet. Gynecol. 199:354.e1-8(2008) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: A significant relationship was found between an elevated Bb in early pregnancy and spontaneous preterm birth less than 34 weeks gestation.
    Source: GeneRIF:629.

    This publication is mapped to 10 other entries.

  23. 23
    "Peripheral retinal drusen and reticular pigment: association with CFHY402H and CFHrs1410996 genotypes in family and twin studies."
    Seddon J.M., Reynolds R., Rosner B.
    Invest. Ophthalmol. Vis. Sci. 50:586-591(2009) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:629.

    This publication is mapped to 41 other entries.

  24. 24
    "Genetic variants of the HLA-A, HLA-B and AIF1 loci show independent associations with type 1 diabetes in Norwegian families."
    Eike M.C., Olsson M., Undlien D.E., Dahl-Jorgensen K., Joner G., Ronningen K.S., Thorsby E., Lie B.A.
    Genes Immun. 10:141-150(2009) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator).
    Source: GeneRIF:629.

    This publication is mapped to 14807 other entries.

  25. 25
    "Allotyping human complement factor B in Asian Indian type 1 diabetic patients."
    Kumar N., Kaur G., Tandon N., Mehra N.K.
    Tissue Antigens 72:517-524(2008) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Observational study of gene-disease association. (HuGE Navigator); We report the BF alleles located on the multiple human leukocyte antigen (HLA)-DR3 haplotypes that are unique in the Indian population and are associated with autoimmunity.
    Source: GeneRIF:629.

    This publication is mapped to 10 other entries.

1 to 25 of 117  Show
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