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Results: 1 to 20 of 27

1.

The binding of factor H to a complex of physiological polyanions and C3b on cells is impaired in atypical hemolytic uremic syndrome.

Ferreira VP, Herbert AP, Cortés C, McKee KA, Blaum BS, Esswein ST, Uhrín D, Barlow PN, Pangburn MK, Kavanagh D.

J Immunol. 2009 Jun 1;182(11):7009-18. doi: 10.4049/jimmunol.0804031.

PMID:
19454698
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome.

Dragon-Durey MA, Blanc C, Marliot F, Loirat C, Blouin J, Sautes-Fridman C, Fridman WH, Frémeaux-Bacchi V.

J Med Genet. 2009 Jul;46(7):447-50. doi: 10.1136/jmg.2008.064766. Epub 2009 May 11.

PMID:
19435718
[PubMed - indexed for MEDLINE]
3.

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.

Frémeaux-Bacchi V, Miller EC, Liszewski MK, Strain L, Blouin J, Brown AL, Moghal N, Kaplan BS, Weiss RA, Lhotta K, Kapur G, Mattoo T, Nivet H, Wong W, Gie S, Hurault de Ligny B, Fischbach M, Gupta R, Hauhart R, Meunier V, Loirat C, Dragon-Durey MA, Fridman WH, Janssen BJ, Goodship TH, Atkinson JP.

Blood. 2008 Dec 15;112(13):4948-52. doi: 10.1182/blood-2008-01-133702. Epub 2008 Sep 16.

PMID:
18796626
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A new map of glycosaminoglycan and C3b binding sites on factor H.

Schmidt CQ, Herbert AP, Kavanagh D, Gandy C, Fenton CJ, Blaum BS, Lyon M, Uhrín D, Barlow PN.

J Immunol. 2008 Aug 15;181(4):2610-9.

PMID:
18684951
[PubMed - indexed for MEDLINE]
Free Article
5.

Successful pre-transplant management of a patient with anti-factor H autoantibodies-associated haemolytic uraemic syndrome.

Kwon T, Dragon-Durey MA, Macher MA, Baudouin V, Maisin A, Peuchmaur M, Fremeaux-Bacchi V, Loirat C.

Nephrol Dial Transplant. 2008 Jun;23(6):2088-90. doi: 10.1093/ndt/gfn063. Epub 2008 Mar 8. No abstract available.

PMID:
18326881
[PubMed - indexed for MEDLINE]
Free Article
6.

The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome.

Martinez-Barricarte R, Pianetti G, Gautard R, Misselwitz J, Strain L, Fremeaux-Bacchi V, Skerka C, Zipfel PF, Goodship T, Noris M, Remuzzi G, de Cordoba SR; European Working Party on the Genetics of HUS.

J Am Soc Nephrol. 2008 Mar;19(3):639-46. doi: 10.1681/ASN.2007080923. Epub 2008 Jan 30.

PMID:
18235085
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration.

Spencer KL, Hauser MA, Olson LM, Schmidt S, Scott WK, Gallins P, Agarwal A, Postel EA, Pericak-Vance MA, Haines JL.

Hum Mol Genet. 2008 Apr 1;17(7):971-7. Epub 2007 Dec 15.

PMID:
18084039
[PubMed - indexed for MEDLINE]
Free Article
8.

Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency.

Józsi M, Licht C, Strobel S, Zipfel SL, Richter H, Heinen S, Zipfel PF, Skerka C.

Blood. 2008 Feb 1;111(3):1512-4. Epub 2007 Nov 15.

PMID:
18006700
[PubMed - indexed for MEDLINE]
Free Article
9.

Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains.

Pickering MC, de Jorge EG, Martinez-Barricarte R, Recalde S, Garcia-Layana A, Rose KL, Moss J, Walport MJ, Cook HT, de Córdoba SR, Botto M.

J Exp Med. 2007 Jun 11;204(6):1249-56. Epub 2007 May 21.

PMID:
17517971
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Anti factor H autoantibodies block C-terminal recognition function of factor H in hemolytic uremic syndrome.

Józsi M, Strobel S, Dahse HM, Liu WS, Hoyer PF, Oppermann M, Skerka C, Zipfel PF.

Blood. 2007 Sep 1;110(5):1516-8. Epub 2007 May 10.

PMID:
17495132
[PubMed - indexed for MEDLINE]
Free Article
11.

Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications.

Hageman GS, Hancox LS, Taiber AJ, Gehrs KM, Anderson DH, Johnson LV, Radeke MJ, Kavanagh D, Richards A, Atkinson J, Meri S, Bergeron J, Zernant J, Merriam J, Gold B, Allikmets R, Dean M; AMD Clinical Study Group.

Ann Med. 2006;38(8):592-604.

PMID:
17438673
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.

Zipfel PF, Edey M, Heinen S, Józsi M, Richter H, Misselwitz J, Hoppe B, Routledge D, Strain L, Hughes AE, Goodship JA, Licht C, Goodship TH, Skerka C.

PLoS Genet. 2007 Mar 16;3(3):e41. Epub 2007 Feb 1.

PMID:
17367211
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Hemolytic uremic syndrome: a factor H mutation (E1172Stop) causes defective complement control at the surface of endothelial cells.

Heinen S, Józsi M, Hartmann A, Noris M, Remuzzi G, Skerka C, Zipfel PF.

J Am Soc Nephrol. 2007 Feb;18(2):506-14. Epub 2007 Jan 17.

PMID:
17229916
[PubMed - indexed for MEDLINE]
Free Article
14.

Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.

Goicoechea de Jorge E, Harris CL, Esparza-Gordillo J, Carreras L, Arranz EA, Garrido CA, López-Trascasa M, Sánchez-Corral P, Morgan BP, Rodríguez de Córdoba S.

Proc Natl Acad Sci U S A. 2007 Jan 2;104(1):240-5. Epub 2006 Dec 20. Erratum in: Proc Natl Acad Sci U S A. 2007 Jun 19;104(25):10749.

PMID:
17182750
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.

Venables JP, Strain L, Routledge D, Bourn D, Powell HM, Warwicker P, Diaz-Torres ML, Sampson A, Mead P, Webb M, Pirson Y, Jackson MS, Hughes A, Wood KM, Goodship JA, Goodship TH.

PLoS Med. 2006 Oct;3(10):e431.

PMID:
17076561
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.

Hughes AE, Orr N, Esfandiary H, Diaz-Torres M, Goodship T, Chakravarthy U.

Nat Genet. 2006 Oct;38(10):1173-7. Epub 2006 Sep 24. Erratum in: Nat Genet. 2007 Apr;39(4):567.

PMID:
16998489
[PubMed - indexed for MEDLINE]
17.

Atypical haemolytic uraemic syndrome.

Kavanagh D, Goodship TH, Richards A.

Br Med Bull. 2006;77-78:5-22. Epub 2006 Sep 11. Review.

PMID:
16968692
[PubMed - indexed for MEDLINE]
18.

An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations.

Saunders RE, Goodship TH, Zipfel PF, Perkins SJ.

Hum Mutat. 2006 Jan;27(1):21-30.

PMID:
16281287
[PubMed - indexed for MEDLINE]
19.

Does complement factor B have a role in the pathogenesis of atypical HUS?

Kavanagh D, Kemp EJ, Richards A, Burgess RM, Mayland E, Goodship JA, Goodship TH.

Mol Immunol. 2006 Mar;43(7):856-9. Epub 2005 Aug 2.

PMID:
16061287
[PubMed - indexed for MEDLINE]
20.

Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome.

Kavanagh D, Kemp EJ, Mayland E, Winney RJ, Duffield JS, Warwick G, Richards A, Ward R, Goodship JA, Goodship TH.

J Am Soc Nephrol. 2005 Jul;16(7):2150-5. Epub 2005 May 25.

PMID:
15917334
[PubMed - indexed for MEDLINE]
Free Article

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