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Items: 1 to 20 of 131

1.

A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function.

Roumenina LT, Frimat M, Miller EC, Provot F, Dragon-Durey MA, Bordereau P, Bigot S, Hue C, Satchell SC, Mathieson PW, Mousson C, Noel C, Sautes-Fridman C, Halbwachs-Mecarelli L, Atkinson JP, Lionet A, Fremeaux-Bacchi V.

Blood. 2012 May 3;119(18):4182-91. doi: 10.1182/blood-2011-10-383281. Epub 2012 Jan 13.

2.

Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.

Bresin E, Rurali E, Caprioli J, Sanchez-Corral P, Fremeaux-Bacchi V, Rodriguez de Cordoba S, Pinto S, Goodship TH, Alberti M, Ribes D, Valoti E, Remuzzi G, Noris M; European Working Party on Complement Genetics in Renal Diseases.

J Am Soc Nephrol. 2013 Feb;24(3):475-86. doi: 10.1681/ASN.2012090884. Epub 2013 Feb 21.

3.

[Atypical hemolytic-uremic syndrome related to abnormalities within the complement system].

Frémeaux-Bacchi V, Fakhouri F, Roumenina L, Dragon-Durey MA, Loirat C.

Rev Med Interne. 2011 Apr;32(4):232-40. doi: 10.1016/j.revmed.2009.09.039. Epub 2011 Mar 3. French.

4.

Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndrome.

Roumenina LT, Jablonski M, Hue C, Blouin J, Dimitrov JD, Dragon-Durey MA, Cayla M, Fridman WH, Macher MA, Ribes D, Moulonguet L, Rostaing L, Satchell SC, Mathieson PW, Sautes-Fridman C, Loirat C, Regnier CH, Halbwachs-Mecarelli L, Fremeaux-Bacchi V.

Blood. 2009 Sep 24;114(13):2837-45. doi: 10.1182/blood-2009-01-197640. Epub 2009 Jul 7.

5.

The molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome.

Martínez-Barricarte R, Heurich M, López-Perrote A, Tortajada A, Pinto S, López-Trascasa M, Sánchez-Corral P, Morgan BP, Llorca O, Harris CL, Rodríguez de Córdoba S.

Mol Immunol. 2015 Aug;66(2):263-73. doi: 10.1016/j.molimm.2015.03.248. Epub 2015 Apr 11.

6.

A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure.

Lhotta K, Janecke AR, Scheiring J, Petzlberger B, Giner T, Fally V, Würzner R, Zimmerhackl LB, Mayer G, Fremeaux-Bacchi V.

Clin J Am Soc Nephrol. 2009 Aug;4(8):1356-62. doi: 10.2215/CJN.06281208. Epub 2009 Jul 9.

7.

Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome.

Fremeaux-Bacchi V, Moulton EA, Kavanagh D, Dragon-Durey MA, Blouin J, Caudy A, Arzouk N, Cleper R, Francois M, Guest G, Pourrat J, Seligman R, Fridman WH, Loirat C, Atkinson JP.

J Am Soc Nephrol. 2006 Jul;17(7):2017-25. Epub 2006 Jun 8.

8.

Atypical hemolytic uremic syndrome.

Loirat C, Frémeaux-Bacchi V.

Orphanet J Rare Dis. 2011 Sep 8;6:60. doi: 10.1186/1750-1172-6-60. Review.

9.

The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies.

Phillips EH, Westwood JP, Brocklebank V, Wong EK, Tellez JO, Marchbank KJ, McGuckin S, Gale DP, Connolly J, Goodship TH, Kavanagh D, Scully MA.

J Thromb Haemost. 2016 Jan;14(1):175-85. doi: 10.1111/jth.13189. Epub 2016 Jan 11.

10.

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.

11.

Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome.

Fang CJ, Fremeaux-Bacchi V, Liszewski MK, Pianetti G, Noris M, Goodship TH, Atkinson JP.

Blood. 2008 Jan 15;111(2):624-32. Epub 2007 Oct 3.

12.

Complement activation in diseases presenting with thrombotic microangiopathy.

Meri S.

Eur J Intern Med. 2013 Sep;24(6):496-502. doi: 10.1016/j.ejim.2013.05.009. Epub 2013 Jun 4. Review.

PMID:
23743117
13.

Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding.

Volokhina E, Westra D, Xue X, Gros P, van de Kar N, van den Heuvel L.

Pediatr Nephrol. 2012 Sep;27(9):1519-24. doi: 10.1007/s00467-012-2183-z. Epub 2012 Jun 6.

14.

Alternative complement pathway assessment in patients with atypical HUS.

Roumenina LT, Loirat C, Dragon-Durey MA, Halbwachs-Mecarelli L, Sautes-Fridman C, Fremeaux-Bacchi V.

J Immunol Methods. 2011 Feb 28;365(1-2):8-26. doi: 10.1016/j.jim.2010.12.020. Epub 2011 Jan 6. Review.

PMID:
21215749
15.

Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype.

Noris M, Caprioli J, Bresin E, Mossali C, Pianetti G, Gamba S, Daina E, Fenili C, Castelletti F, Sorosina A, Piras R, Donadelli R, Maranta R, van der Meer I, Conway EM, Zipfel PF, Goodship TH, Remuzzi G.

Clin J Am Soc Nephrol. 2010 Oct;5(10):1844-59. doi: 10.2215/CJN.02210310. Epub 2010 Jul 1.

16.

Complement activation by heme as a secondary hit for atypical hemolytic uremic syndrome.

Frimat M, Tabarin F, Dimitrov JD, Poitou C, Halbwachs-Mecarelli L, Fremeaux-Bacchi V, Roumenina LT.

Blood. 2013 Jul 11;122(2):282-92. doi: 10.1182/blood-2013-03-489245. Epub 2013 May 21.

17.

Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome.

Schramm EC, Roumenina LT, Rybkine T, Chauvet S, Vieira-Martins P, Hue C, Maga T, Valoti E, Wilson V, Jokiranta S, Smith RJ, Noris M, Goodship T, Atkinson JP, Fremeaux-Bacchi V.

Blood. 2015 Apr 9;125(15):2359-69. doi: 10.1182/blood-2014-10-609073. Epub 2015 Jan 21.

18.

Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome.

Richards A, Kathryn Liszewski M, Kavanagh D, Fang CJ, Moulton E, Fremeaux-Bacchi V, Remuzzi G, Noris M, Goodship TH, Atkinson JP.

Mol Immunol. 2007 Jan;44(1-3):111-22. Epub 2006 Aug 1. Review.

PMID:
16882452
19.

Manifestation of atypical hemolytic uremic syndrome caused by novel mutations in MCP.

Provaznikova D, Rittich S, Malina M, Seeman T, Marinov I, Riedl M, Hrachovinova I.

Pediatr Nephrol. 2012 Jan;27(1):73-81. doi: 10.1007/s00467-011-1943-5. Epub 2011 Jun 27.

PMID:
21706448
20.

Functional characterization of two novel non-synonymous alterations in CD46 and a Q950H change in factor H found in atypical hemolytic uremic syndrome patients.

Mohlin FC, Nilsson SC, Levart TK, Golubovic E, Rusai K, Müller-Sacherer T, Arbeiter K, Pállinger É, Szarvas N, Csuka D, Szilágyi Á, Villoutreix BO, Prohászka Z, Blom AM.

Mol Immunol. 2015 Jun;65(2):367-76. doi: 10.1016/j.molimm.2015.02.013. Epub 2015 Feb 28.

PMID:
25733390

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