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Items: 1 to 20 of 24

1.

Complement C3 variant and the risk of age-related macular degeneration.

Yates JR, Sepp T, Matharu BK, Khan JC, Thurlby DA, Shahid H, Clayton DG, Hayward C, Morgan J, Wright AF, Armbrecht AM, Dhillon B, Deary IJ, Redmond E, Bird AC, Moore AT; Genetic Factors in AMD Study Group.

N Engl J Med. 2007 Aug 9;357(6):553-61. Epub 2007 Jul 18.

2.

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.

3.

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.

4.

Structure of C3b reveals conformational changes that underlie complement activity.

Janssen BJ, Christodoulidou A, McCarthy A, Lambris JD, Gros P.

Nature. 2006 Nov 9;444(7116):213-6. Epub 2006 Oct 15.

PMID:
17051160
5.

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
6.

Structural insights into the central complement component C3.

Janssen BJ, Gros P.

Mol Immunol. 2007 Jan;44(1-3):3-10. Epub 2006 Jul 27. Review.

PMID:
16875735
7.

Influence of donor C3 allotype on late renal-transplantation outcome.

Brown KM, Kondeatis E, Vaughan RW, Kon SP, Farmer CK, Taylor JD, He X, Johnston A, Horsfield C, Janssen BJ, Gros P, Zhou W, Sacks SH, Sheerin NS.

N Engl J Med. 2006 May 11;354(19):2014-23.

8.
9.

Structures of complement component C3 provide insights into the function and evolution of immunity.

Janssen BJ, Huizinga EG, Raaijmakers HC, Roos A, Daha MR, Nilsson-Ekdahl K, Nilsson B, Gros P.

Nature. 2005 Sep 22;437(7058):505-11.

10.

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.

11.

Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome.

Fremeaux-Bacchi V, Dragon-Durey MA, Blouin J, Vigneau C, Kuypers D, Boudailliez B, Loirat C, Rondeau E, Fridman WH.

J Med Genet. 2004 Jun;41(6):e84. No abstract available.

12.

Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases.

Dragon-Durey MA, Frémeaux-Bacchi V, Loirat C, Blouin J, Niaudet P, Deschenes G, Coppo P, Herman Fridman W, Weiss L.

J Am Soc Nephrol. 2004 Mar;15(3):787-95.

13.

Familial haemolytic uraemic syndrome and an MCP mutation.

Noris M, Brioschi S, Caprioli J, Todeschini M, Bresin E, Porrati F, Gamba S, Remuzzi G; International Registry of Recurrent and Familial HUS/TTP.

Lancet. 2003 Nov 8;362(9395):1542-7.

PMID:
14615110
14.

Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome.

Richards A, Kemp EJ, Liszewski MK, Goodship JA, Lampe AK, Decorte R, Müslümanoğlu MH, Kavukcu S, Filler G, Pirson Y, Wen LS, Atkinson JP, Goodship TH.

Proc Natl Acad Sci U S A. 2003 Oct 28;100(22):12966-71. Epub 2003 Oct 17.

15.

Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition.

Richards A, Buddles MR, Donne RL, Kaplan BS, Kirk E, Venning MC, Tielemans CL, Goodship JA, Goodship TH.

Am J Hum Genet. 2001 Feb;68(2):485-90. Epub 2001 Jan 17.

16.

Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.

Pérez-Caballero D, González-Rubio C, Gallardo ME, Vera M, López-Trascasa M, Rodríguez de Córdoba S, Sánchez-Corral P.

Am J Hum Genet. 2001 Feb;68(2):478-84. Epub 2001 Jan 17.

17.

The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20.

Caprioli J, Bettinaglio P, Zipfel PF, Amadei B, Daina E, Gamba S, Skerka C, Marziliano N, Remuzzi G, Noris M; Itaslian Registry of Familial and Recurrent HUS/TTP.

J Am Soc Nephrol. 2001 Feb;12(2):297-307.

18.

Dissecting sites important for complement regulatory activity in membrane cofactor protein (MCP; CD46).

Liszewski MK, Leung M, Cui W, Subramanian VB, Parkinson J, Barlow PN, Manchester M, Atkinson JP.

J Biol Chem. 2000 Dec 1;275(48):37692-701.

19.

Genetic studies into inherited and sporadic hemolytic uremic syndrome.

Warwicker P, Goodship TH, Donne RL, Pirson Y, Nicholls A, Ward RM, Turnpenny P, Goodship JA.

Kidney Int. 1998 Apr;53(4):836-44.

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