-
1
-
-
70350279315
-
Atypical hemolytic-uremic syndrome
-
Noris M, Remuzzi G. Atypical hemolytic-uremic syndrome. N Engl J Med. 2009;361(17): 1676-1687.
-
(2009)
N Engl J Med
, vol.361
, Issue.17
, pp. 1676-1687
-
-
Noris, M.1
Remuzzi, G.2
-
2
-
-
77958587405
-
Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype
-
Noris M, Caprioli J, Bresin E, et al. Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. Clin J Am Soc Nephrol. 2010;5(10): 1844-1859.
-
(2010)
Clin J Am Soc Nephrol
, vol.5
, Issue.10
, pp. 1844-1859
-
-
Noris, M.1
Caprioli, J.2
Bresin, E.3
-
3
-
-
33846094404
-
Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome
-
Goicoechea de Jorge E, Harris CL, Esparza-Gordillo J, et al. Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proc Natl Acad Sci USA. 2007;104(1):240-245.
-
(2007)
Proc Natl Acad Sci USA
, vol.104
, Issue.1
, pp. 240-245
-
-
Goicoechea de Jorge, E.1
Harris, C.L.2
Esparza-Gordillo, J.3
-
4
-
-
54049137505
-
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome
-
Frémeaux-Bacchi V, Miller EC, Liszewski MK, et al. Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. Blood. 2008; 112(13):4948-4952.
-
(2008)
Blood
, vol.112
, Issue.13
, pp. 4948-4952
-
-
Frémeaux-Bacchi, V.1
Miller, E.C.2
Liszewski, M.K.3
-
5
-
-
67651166873
-
Thrombomodulin mutations in atypical hemolytic-uremic syndrome
-
Delvaeye M, Noris M, De Vriese A, et al. Thrombomodulin mutations in atypical hemolytic-uremic syndrome. N Engl J Med. 2009;361(4): 345-357.
-
(2009)
N Engl J Med
, vol.361
, Issue.4
, pp. 345-357
-
-
Delvaeye, M.1
Noris, M.2
de Vriese, A.3
-
6
-
-
75649133611
-
Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome
-
Moore I, Strain L, Pappworth I, et al. Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome. Blood. 2010;115(2): 379-387.
-
(2010)
Blood
, vol.115
, Issue.2
, pp. 379-387
-
-
Moore, I.1
Strain, L.2
Pappworth, I.3
-
7
-
-
84874610717
-
Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype
-
Bresin E, Rurali E, Caprioli J, et al; European Working Party on Complement Genetics in Renal Diseases. Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype. J Am Soc Nephrol. 2013;24(3): 475-486.
-
(2013)
J Am Soc Nephrol
, vol.24
, Issue.3
, pp. 475-486
-
-
Bresin, E.1
Rurali, E.2
Caprioli, J.3
-
8
-
-
0037396993
-
Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome
-
Manuelian T, Hellwage J, Meri S, et al. Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome. J Clin Invest. 2003;111(8):1181-1190.
-
(2003)
J Clin Invest
, vol.111
, Issue.8
, pp. 1181-1190
-
-
Manuelian, T.1
Hellwage, J.2
Meri, S.3
-
9
-
-
70350475255
-
Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndrome
-
Roumenina LT, Jablonski M, Hue C, et al. Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndrome. Blood. 2009;114(13):2837-2845.
-
(2009)
Blood
, vol.114
, Issue.13
, pp. 2837-2845
-
-
Roumenina, L.T.1
Jablonski, M.2
Hue, C.3
-
10
-
-
34250329129
-
Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains
-
Pickering MC, de Jorge EG, Martinez-Barricarte R, et al. Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains. J Exp Med. 2007;204(6): 1249-1256.
-
(2007)
J Exp Med
, vol.204
, Issue.6
, pp. 1249-1256
-
-
Pickering, M.C.1
de Jorge, E.G.2
Martinez-Barricarte, R.3
-
11
-
-
78651410434
-
The development of atypical hemolytic uremic syndrome depends on complement C5
-
de Jorge EG, Macor P, Paixão-Cavalcante D, et al. The development of atypical hemolytic uremic syndrome depends on complement C5. J Am Soc Nephrol. 2011;22(1):137-145.
-
(2011)
J Am Soc Nephrol
, vol.22
, Issue.1
, pp. 137-145
-
-
de Jorge, E.G.1
Macor, P.2
Paixão-Cavalcante, D.3
-
13
-
-
84878589219
-
Terminal complement inhibitor eculizumab in atypical hemolytic-uremic syndrome
-
Legendre CM, Licht C, Muus P, et al. Terminal complement inhibitor eculizumab in atypical hemolytic-uremic syndrome. N Engl J Med. 2013; 368(23):2169-2181.
-
(2013)
N Engl J Med
, vol.368
, Issue.23
, pp. 2169-2181
-
-
Legendre, C.M.1
Licht, C.2
Muus, P.3
-
14
-
-
84867997580
-
STEC-HUS, atypical HUS and TTP are all diseases of complement activation
-
Noris M, Mescia F, Remuzzi G. STEC-HUS, atypical HUS and TTP are all diseases of complement activation. Nat Rev Nephrol. 2012; 8(11):622-633.
-
(2012)
Nat Rev Nephrol
, vol.8
, Issue.11
, pp. 622-633
-
-
Noris, M.1
Mescia, F.2
Remuzzi, G.3
-
15
-
-
84867993256
-
Use of eculizumab for atypical haemolytic uraemic syndrome and C3 glomerulopathies
-
Zuber J, Fakhouri F, Roumenina LT, Loirat C, Frémeaux-Bacchi V; French Study Group for aHUS/C3G. Use of eculizumab for atypical haemolytic uraemic syndrome and C3 glomerulopathies. Nat Rev Nephrol. 2012;8(11): 643-657.
-
(2012)
Nat Rev Nephrol
, vol.8
, Issue.11
, pp. 643-657
-
-
Zuber, J.1
Fakhouri, F.2
Roumenina, L.T.3
Loirat, C.4
Frémeaux-Bacchi, V.5
-
16
-
-
85074429507
-
Health chiefs refuse to pay for livesaving kidney treatment
-
May 27
-
Barrow M. Health chiefs refuse to pay for livesaving kidney treatment. The Times; May 27, 2013.
-
(2013)
The Times
-
-
Barrow, M.1
-
18
-
-
84878608990
-
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome
-
Lemaire M, Frémeaux-Bacchi V, Schaefer F, et al. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet. 2013; 45(5):531-536.
-
(2013)
Nat Genet
, vol.45
, Issue.5
, pp. 531-536
-
-
Lemaire, M.1
Frémeaux-Bacchi, V.2
Schaefer, F.3
-
20
-
-
33745697887
-
Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II)
-
Licht C, Heinen S, Józsi M, et al. Deletion of Lys224 in regulatory domain 4 of Factor H reveals a novel pathomechanism for dense deposit disease (MPGN II). Kidney Int. 2006;70(1):42-50.
-
(2006)
Kidney Int
, vol.70
, Issue.1
, pp. 42-50
-
-
Licht, C.1
Heinen, S.2
Józsi, M.3
-
21
-
-
77957827919
-
Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation
-
Martínez-Barricarte R, Heurich M, Valdes-Cañedo F, et al. Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation. J Clin Invest. 2010;120(10): 3702-3712.
-
(2010)
J Clin Invest
, vol.120
, Issue.10
, pp. 3702-3712
-
-
Martínez-Barricarte, R.1
Heurich, M.2
Valdes-Cañedo, F.3
-
22
-
-
17144418992
-
Platelet activation leads to activation and propagation of the complement system
-
Del Conde I, Crúz MA, Zhang H, López JA, Afshar-Kharghan V. Platelet activation leads to activation and propagation of the complement system. J Exp Med. 2005;201(6):871-879.
-
(2005)
J Exp Med
, vol.201
, Issue.6
, pp. 871-879
-
-
Del Conde, I.1
Crúz, M.A.2
Zhang, H.3
López, J.A.4
Afshar-Kharghan, V.5
-
23
-
-
79960435714
-
Alternative pathway activation of complement by Shiga toxin promotes exuberant C3a formation that triggers microvascular thrombosis
-
Morigi M, Galbusera M, Gastoldi S, et al. Alternative pathway activation of complement by Shiga toxin promotes exuberant C3a formation that triggers microvascular thrombosis. J Immunol. 2011;187(1):172-180.
-
(2011)
J Immunol
, vol.187
, Issue.1
, pp. 172-180
-
-
Morigi, M.1
Galbusera, M.2
Gastoldi, S.3
-
24
-
-
84912552681
-
A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation
-
published online June 5, 2014
-
Valoti E, Alberti M, Tortajada A, et al. A novel atypical hemolytic uremic syndrome-associated hybrid CFHR1/CFH gene encoding a fusion protein that antagonizes factor H-dependent complement regulation [published online June 5, 2014]. J Am Soc Nephrol.
-
J Am Soc Nephrol
-
-
Valoti, E.1
Alberti, M.2
Tortajada, A.3
-
25
-
-
0035128326
-
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, et al. Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition. Am J Hum Genet. 2001;68(2): 485-490.
-
(2001)
Am J Hum Genet
, vol.68
, Issue.2
, pp. 485-490
-
-
Richards, A.1
Buddles, M.R.2
Donne, R.L.3
-
26
-
-
80052473232
-
Prophylactic eculizumab prior to kidney transplantation for atypical hemolytic uremic syndrome
-
Weitz M, Amon O, Bassler D, Koenigsrainer A, Nadalin S. Prophylactic eculizumab prior to kidney transplantation for atypical hemolytic uremic syndrome. Pediatr Nephrol. 2011;26(8): 1325-1329.
-
(2011)
Pediatr Nephrol
, vol.26
, Issue.8
, pp. 1325-1329
-
-
Weitz, M.1
Amon, O.2
Bassler, D.3
Koenigsrainer, A.4
Nadalin, S.5
-
27
-
-
40449085427
-
The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome
-
Martinez-Barricarte R, Pianetti G, Gautard R, et al; European Working Party on the Genetics of HUS. The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2008;19(3): 639-646.
-
(2008)
J Am Soc Nephrol
, vol.19
, Issue.3
, pp. 639-646
-
-
Martinez-Barricarte, R.1
Pianetti, G.2
Gautard, R.3
-
28
-
-
84884971310
-
Eculizumab in atypical hemolytic-uremic syndrome
-
Ring T. Eculizumab in atypical hemolytic-uremic syndrome. N Engl J Med. 2013;369(14): 1377-1378.
-
(2013)
N Engl J Med
, vol.369
, Issue.14
, pp. 1377-1378
-
-
Ring, T.1
-
29
-
-
2342582709
-
Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H
-
Sánchez-Corral P, González-Rubio C, Rodríguez de Córdoba S, López-Trascasa M. Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H. Mol Immunol. 2004;41(1):81-84.
-
(2004)
Mol Immunol
, vol.41
, Issue.1
, pp. 81-84
-
-
Sánchez-Corral, P.1
González-Rubio, C.2
Rodríguez de Córdoba, S.3
López-Trascasa, M.4
-
30
-
-
79551595553
-
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. Alternative complement pathway assessment in patients with atypical HUS. J Immunol Methods. 2011;365(1-2):8-26.
-
(2011)
J Immunol Methods
, vol.365
, Issue.1-2
, pp. 8-26
-
-
Roumenina, L.T.1
Loirat, C.2
Dragon-Durey, M.A.3
Halbwachs-Mecarelli, L.4
Sautes-Fridman, C.5
Fremeaux-Bacchi, V.6
-
32
-
-
34548358982
-
Where next with atypical hemolytic uremic syndrome?
-
Jokiranta TS, Zipfel PF, Fremeaux-Bacchi V, Taylor CM, Goodship TJ, Noris M. Where next with atypical hemolytic uremic syndrome? Mol Immunol. 2007;44(16):3889-3900.
-
(2007)
Mol Immunol
, vol.44
, Issue.16
, pp. 3889-3900
-
-
Jokiranta, T.S.1
Zipfel, P.F.2
Fremeaux-Bacchi, V.3
Taylor, C.M.4
Goodship, T.J.5
Noris, M.6
-
33
-
-
84860711841
-
A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function
-
Roumenina LT, Frimat M, Miller EC, et al. A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function. Blood. 2012;119(18):4182-4191.
-
(2012)
Blood
, vol.119
, Issue.18
, pp. 4182-4191
-
-
Roumenina, L.T.1
Frimat, M.2
Miller, E.C.3
-
34
-
-
80053572803
-
Age-related penetrance of hereditary atypical hemolytic uremic syndrome
-
Sullivan M, Rybicki LA, Winter A, et al. Age-related penetrance of hereditary atypical hemolytic uremic syndrome. Ann Hum Genet. 2011;75(6):639-647.
-
(2011)
Ann Hum Genet
, vol.75
, Issue.6
, pp. 639-647
-
-
Sullivan, M.1
Rybicki, L.A.2
Winter, A.3
-
35
-
-
72549097037
-
Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome
-
Sullivan M, Erlic Z, Hoffmann MM, et al. Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome. Ann Hum Genet. 2010;74(1):17-26.
-
(2010)
Ann Hum Genet
, vol.74
, Issue.1
, pp. 17-26
-
-
Sullivan, M.1
Erlic, Z.2
Hoffmann, M.M.3
-
36
-
-
84884944270
-
Eculizumab in atypical hemolytic-uremic syndrome
-
Tanimoto T, Oshima Y, Kami M. Eculizumab in atypical hemolytic-uremic syndrome. N Engl J Med. 2013;369(14):1378-1379.
-
(2013)
N Engl J Med
, vol.369
, Issue.14
, pp. 1378-1379
-
-
Tanimoto, T.1
Oshima, Y.2
Kami, M.3
-
37
-
-
84884971310
-
Eculizumab in atypical hemolytic-uremic syndrome
-
Legendre CM, Licht C, Loirat C. Eculizumab in atypical hemolytic-uremic syndrome. N Engl J Med. 2013;369(14):1379-1380.
-
(2013)
N Engl J Med
, vol.369
, Issue.14
, pp. 1379-1380
-
-
Legendre, C.M.1
Licht, C.2
Loirat, C.3
|