-
1
-
-
70350279315
-
Atypical hemolytic-uremic syndrome
-
2-s2.0-70350279315
-
Noris M., Remuzzi G., Atypical hemolytic-uremic syndrome. The New England Journal of Medicine 2009 361 17 1675 1687 2-s2.0-70350279315
-
(2009)
The New England Journal of Medicine
, vol.361
, Issue.17
, pp. 1675-1687
-
-
Noris, M.1
Remuzzi, G.2
-
2
-
-
2542420109
-
Non-enteropathic hemolytic uremic syndrome: Causes and short-term course
-
Constantinescu A. R., Bitzan M., Weiss L. S., Christen E., Kaplan B. S., Cnaan A., Trachtman H., Non-enteropathic hemolytic uremic syndrome: causes and short-term course. American Journal of Kidney Diseases 2004 43 6 976 982 2-s2.0-2542420109 (Pubitemid 38691492)
-
(2004)
American Journal of Kidney Diseases
, vol.43
, Issue.6
, pp. 976-982
-
-
Constantinescu, A.R.1
Bitzan, M.2
Weiss, L.S.3
Christen, E.4
Kaplan, B.S.5
Cnaan, A.6
Trachtman, H.7
-
3
-
-
77958587405
-
Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype
-
2-s2.0-77958587405 10.2215/CJN.02210310
-
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 E. M., Zipfel P. F., Goodship T. H., Remuzzi G., Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. Clinical Journal of the American Society of Nephrology 2010 5 10 1844 1859 2-s2.0-77958587405 10.2215/CJN.02210310
-
(2010)
Clinical Journal of the American Society of Nephrology
, vol.5
, Issue.10
, pp. 1844-1859
-
-
Noris, M.1
Caprioli, J.2
Bresin, E.3
Mossali, C.4
Pianetti, G.5
Gamba, S.6
Daina, E.7
Fenili, C.8
Castelletti, F.9
Sorosina, A.10
Piras, R.11
Donadelli, R.12
Maranta, R.13
Van Der Meer, I.14
Conway, E.M.15
Zipfel, P.F.16
Goodship, T.H.17
Remuzzi, G.18
-
4
-
-
34547633064
-
Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome
-
DOI 10.1681/ASN.2006080811
-
Sellier-Leclerc A. L., Frémeaux-Bacchi V., Dragon-Durey M. A., Macher M. A., Niaudet P., Guest G., Boudailliez B., Bouissou F., Deschenes G., Gie S., Tsimaratos M., Fischbach M., Morin D., Nivet H., Alberti C., Loirat C., Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome. Journal of the American Society of Nephrology 2007 18 8 2392 2400 2-s2.0-34547633064 10.1681/ASN.2006080811 (Pubitemid 47203855)
-
(2007)
Journal of the American Society of Nephrology
, vol.18
, Issue.8
, pp. 2392-2400
-
-
Sellier-Leclerc, A.-L.1
Fremeaux-Bacchi, V.2
Dragon-Durey, M.-A.3
Macher, M.-A.4
Niaudet, P.5
Guest, G.6
Boudailliez, B.7
Bouissou, F.8
Deschenes, G.9
Gie, S.10
Tsimaratos, M.11
Fischbach, M.12
Morin, D.13
Nivet, H.14
Alberti, C.15
Loirat, C.16
-
5
-
-
84896706200
-
Atypical hemolytic-uremic syndrome
-
Seattle, Wash, USA
-
Noris M., Remuzzi G., Pagon R. A., Bird T. D., Dolan C. R., Atypical hemolytic-uremic syndrome. GeneReviews 1993 Seattle, Wash, USA
-
(1993)
GeneReviews
-
-
Noris, M.1
Remuzzi, G.2
Pagon, R.A.3
Bird, T.D.4
Dolan, C.R.5
-
6
-
-
78649863686
-
Clinical features of anti-factor H autoantibody-associated hemolytic uremic syndrome
-
2-s2.0-78649863686 10.1681/ASN.2010030315
-
Dragon-Durey M. A., Sethi S. K., Bagga A., Blanc C., Blouin J., Ranchin B., André J. L., Takagi N., Cheong H. I., Hari P., Le Quintrec M., Niaudet P., Loirat C., Fridman W. H., Frémeaux-Bacchi V., Clinical features of anti-factor H autoantibody-associated hemolytic uremic syndrome. Journal of the American Society of Nephrology 2010 21 12 2180 2187 2-s2.0-78649863686 10.1681/ASN.2010030315
-
(2010)
Journal of the American Society of Nephrology
, vol.21
, Issue.12
, pp. 2180-2187
-
-
Dragon-Durey, M.A.1
Sethi, S.K.2
Bagga, A.3
Blanc, C.4
Blouin, J.5
Ranchin, B.6
André, J.L.7
Takagi, N.8
Cheong, H.I.9
Hari, P.10
Le Quintrec, M.11
Niaudet, P.12
Loirat, C.13
Fridman, W.H.14
Frémeaux-Bacchi, V.15
-
7
-
-
33747159590
-
Genetics of HUS: The impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome
-
DOI 10.1182/blood-2005-10-007252
-
Caprioli J., Noris M., Brioschi S., Pianetti G., Castelletti F., Bettinaglio P., Mele C., Bresin E., Cassis L., Gamba S., Porrati F., Bucchioni S., Monteferrante G., Fang C. J., Liszewski M. K., Kavanagh D., Atkinson J. P., Remuzzi G., Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood 2006 108 4 1267 1279 2-s2.0-33747159590 10.1182/blood-2005-10-007252 (Pubitemid 44232024)
-
(2006)
Blood
, vol.108
, Issue.4
, pp. 1267-1279
-
-
Caprioli, J.1
Noris, M.2
Brioschi, S.3
Pianetti, G.4
Castelletti, F.5
Bettinaglio, P.6
Mele, C.7
Bresin, E.8
Cassis, L.9
Gamba, S.10
Porrati, F.11
Bucchioni, S.12
Monteferrante, G.13
Fang, C.J.14
Liszewski, M.K.15
Kavanagh, D.16
Atkinson, J.P.17
Remuzzi, G.18
-
8
-
-
77950428338
-
AHUS: A disorder with many risk factors
-
2-s2.0-77950428338 10.1182/blood-2009-11-252627
-
de Córdoba S. R., AHUS: a disorder with many risk factors. Blood 2010 115 2 158 160 2-s2.0-77950428338 10.1182/blood-2009-11-252627
-
(2010)
Blood
, vol.115
, Issue.2
, pp. 158-160
-
-
De Córdoba, S.R.1
-
9
-
-
84862780165
-
Postpartum aHUS secondary to a genetic abnormality in factor H acquired through liver transplantation
-
Brown J. H., Tellez J., Wilson V., Postpartum aHUS secondary to a genetic abnormality in factor H acquired through liver transplantation. American Journal of Transplantation 2012 12 6 1632 1636
-
(2012)
American Journal of Transplantation
, vol.12
, Issue.6
, pp. 1632-1636
-
-
Brown, J.H.1
Tellez, J.2
Wilson, V.3
-
10
-
-
70349437186
-
Complement regulators and inhibitory proteins
-
2-s2.0-70349437186 10.1038/nri2620
-
Zipfel P. F., Skerka C., Complement regulators and inhibitory proteins. Nature Reviews Immunology 2009 9 10 729 740 2-s2.0-70349437186 10.1038/nri2620
-
(2009)
Nature Reviews Immunology
, vol.9
, Issue.10
, pp. 729-740
-
-
Zipfel, P.F.1
Skerka, C.2
-
11
-
-
0036748150
-
Which came first, the lectin/classical pathway or the alternative pathway of complement?
-
Dodds A. W., Which came first, the lectin/classical pathway or the alternative pathway of complement? Immunobiology 2002 205 4-5 340 354 2-s2.0-0036748150 (Pubitemid 35153952)
-
(2002)
Immunobiology
, vol.205
, Issue.4-5
, pp. 340-354
-
-
Dodds, A.W.1
-
12
-
-
0018590717
-
Activation of the complement system by antibody-antigen complexes: The classical pathway
-
2-s2.0-0018590717 10.1016/S0065-3233(08)60458-1
-
Porter R. R., Reid K. B. M., Activation of the complement system by antibody-antigen complexes: the classical pathway. Advances in Protein Chemistry 1979 33 1 71 2-s2.0-0018590717 10.1016/S0065-3233(08)60458-1
-
(1979)
Advances in Protein Chemistry
, vol.33
, pp. 1-71
-
-
Porter, R.R.1
Reid, K.B.M.2
-
13
-
-
0029938895
-
The lectin pathway of complement activation
-
DOI 10.1016/0923-2494(96)87184-7
-
Turner M. W., The lectin pathway of complement activation. Research in Immunology 1996 147 2 110 115 2-s2.0-0029938895 10.1016/0923-2494(96)87184-7 (Pubitemid 26180574)
-
(1996)
Research in Immunology
, vol.147
, Issue.2
, pp. 110-115
-
-
Turner, M.W.1
-
14
-
-
0030443077
-
The lectin pathway of the complement system
-
Matsushita M., The lectin pathway of the complement system. Microbiology and Immunology 1996 40 12 887 893 2-s2.0-0030443077 (Pubitemid 27014313)
-
(1996)
Microbiology and Immunology
, vol.40
, Issue.12
, pp. 887-893
-
-
Matsushita, M.1
-
15
-
-
47249120139
-
The spectrum of complement alternative pathway-mediated diseases
-
DOI 10.1111/j.1600-065X.2008.00641.x
-
Holers V. M., The spectrum of complement alternative pathway-mediated diseases. Immunological Reviews 2008 223 1 300 316 2-s2.0-47249120139 10.1111/j.1600-065X.2008.00641.x (Pubitemid 351986186)
-
(2008)
Immunological Reviews
, vol.223
, Issue.1
, pp. 300-316
-
-
Holers, V.M.1
-
17
-
-
57649143877
-
Inhibiting complement activation on cells at the step of C3 cleavage
-
2-s2.0-57649143877 10.1016/j.vaccine.2008.11.001
-
Liszewski M. K., Fang C. J., Atkinson J. P., Inhibiting complement activation on cells at the step of C3 cleavage. Vaccine 2008 26, supplement 8 I22 I27 2-s2.0-57649143877 10.1016/j.vaccine.2008.11.001
-
(2008)
Vaccine
, vol.268
-
-
Liszewski, M.K.1
Fang, C.J.2
Atkinson, J.P.3
-
18
-
-
84934436430
-
Conformational complexity of complement component C3
-
2-s2.0-33751036565 10.1007/0-387-34134-X-20
-
Janssen B. J. C., Gros P., Conformational complexity of complement component C3. Advances in Experimental Medicine and Biology 2006 586 291 312 2-s2.0-33751036565 10.1007/0-387-34134-X-20
-
(2006)
Advances in Experimental Medicine and Biology
, vol.586
, pp. 291-312
-
-
Janssen, B.J.C.1
Gros, P.2
-
19
-
-
77955965634
-
Multiple interactions of complement factor h with its ligands in solution: A progress report
-
2-s2.0-77955965634 10.1007/978-1-4419-5635-43
-
Perkins S. J., Nan R., Okemefuna A. I., Li K., Khan S., Miller A., Multiple interactions of complement factor h with its ligands in solution: a progress report. Advances in Experimental Medicine and Biology 2010 703 25 47 2-s2.0-77955965634 10.1007/978-1-4419-5635-43
-
(2010)
Advances in Experimental Medicine and Biology
, vol.703
, pp. 25-47
-
-
Perkins, S.J.1
Nan, R.2
Okemefuna, A.I.3
Li, K.4
Khan, S.5
Miller, A.6
-
20
-
-
57649230771
-
Complement factor H related proteins in immune diseases
-
2-s2.0-57649230771 10.1016/j.vaccine.2008.11.021
-
Skerka C., Zipfel P. F., Complement factor H related proteins in immune diseases. Vaccine 2008 26, supplement 8 I9 I14 2-s2.0-57649230771 10.1016/j.vaccine.2008.11.021
-
(2008)
Vaccine
, vol.268
-
-
Skerka, C.1
Zipfel, P.F.2
-
21
-
-
0036865356
-
Structure and function of complement C5 convertase enzymes
-
DOI 10.1042/BST0301006
-
Pangburn M. K., Rawal N., Structure and function of complement C5 convertase enzymes. Biochemical Society Transactions 2002 30 6 1006 1010 2-s2.0-0036865356 10.1042/BST0301006 (Pubitemid 36002396)
-
(2002)
Biochemical Society Transactions
, vol.30
, Issue.6
, pp. 1006-1010
-
-
Pangburn, M.K.1
Rawal, N.2
-
22
-
-
0033064619
-
Regulation of the complement membrane attack pathway
-
Morgan B. P., Regulation of the complement membrane attack pathway. Critical Reviews in Immunology 1999 19 3 173 198 2-s2.0-0033064619 (Pubitemid 29321438)
-
(1999)
Critical Reviews in Immunology
, vol.19
, Issue.3
, pp. 173-198
-
-
Morgan, B.P.1
-
25
-
-
80052853553
-
Do complement factor H 402Y and C7 M allotypes predispose to (typical) haemolytic uraemic syndrome?
-
2-s2.0-79957957687 10.1111/j.1744-313X.2011.01017.x
-
Poolpol K., Gadner B., Neururer S., Mellmann A., Karch H., Orth D., Würzner R., Do complement factor H 402Y and C7 M allotypes predispose to (typical) haemolytic uraemic syndrome? International Journal of Immunogenetics 2011 38 5 383 387 2-s2.0-79957957687 10.1111/j.1744-313X.2011.01017.x
-
(2011)
International Journal of Immunogenetics
, vol.38
, Issue.5
, pp. 383-387
-
-
Poolpol, K.1
Gadner, B.2
Neururer, S.3
Mellmann, A.4
Karch, H.5
Orth, D.6
Würzner, R.7
-
26
-
-
0013833869
-
Fatal haemolytic uraemic syndrome and idiopathic hyperlipaemia in monozygotic twins
-
2-s2.0-0013833869
-
Campbell S., Carré I. J., Fatal haemolytic uraemic syndrome and idiopathic hyperlipaemia in monozygotic twins. Archives of Disease in Childhood 1965 40 214 654 658 2-s2.0-0013833869
-
(1965)
Archives of Disease in Childhood
, vol.40
, Issue.214
, pp. 654-658
-
-
Campbell, S.1
Carré, I.J.2
-
27
-
-
64149117800
-
The spectrum of phenotypes caused by variants in the CFH gene
-
2-s2.0-64149117800 10.1016/j.molimm.2009.02.013
-
Boon C. J. F., van de Kar N. C., Klevering B. J., Keunen J. E. E., Cremers F. P. M., Klaver C. C. W., Hoyng C. B., Daha M. R., den Hollander A. I., The spectrum of phenotypes caused by variants in the CFH gene. Molecular Immunology 2009 46 8-9 1573 1594 2-s2.0-64149117800 10.1016/j.molimm.2009.02.013
-
(2009)
Molecular Immunology
, vol.46
, Issue.8-9
, pp. 1573-1594
-
-
Boon, C.J.F.1
Van De Kar, N.C.2
Klevering, B.J.3
Keunen, J.E.E.4
Cremers, F.P.M.5
Klaver, C.C.W.6
Hoyng, C.B.7
Daha, M.R.8
Den Hollander, A.I.9
-
28
-
-
0031970553
-
Genetic studies into inherited and sporadic hemolytic uremic syndrome
-
DOI 10.1111/j.1523-1755.1998.00824.x
-
Warwicker P., Goodship T. H. J., Donne R. L., Pirson Y., Nicholls A., Ward R. M., Turnpenny P., Goodship J. A., Genetic studies into inherited and sporadic hemolytic uremic syndrome. Kidney International 1998 53 4 836 844 2-s2.0-0031970553 10.1111/j.1523-1755.1998.00824.x (Pubitemid 28155655)
-
(1998)
Kidney International
, vol.53
, Issue.4
, pp. 836-844
-
-
Warwicker, P.1
Goodship, T.H.J.2
Donne, R.L.3
Pirson, Y.4
Nicholls, A.5
Ward, R.M.6
Turnpenny, P.7
Goodship, J.A.8
-
29
-
-
40449085427
-
The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome
-
DOI 10.1681/ASN.2007080923
-
Martinez-Barricarte R., Pianetti G., Gautard R., Misselwitz J., Strain L., Frémeaux-Bacchi V., Skerka C., Zipfel P. F., Goodship T., Noris M., Remuzzi G., De Cordoba S. R., The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome. Journal of the American Society of Nephrology 2008 19 3 639 646 2-s2.0-40449085427 10.1681/ASN. 2007080923 (Pubitemid 351355408)
-
(2008)
Journal of the American Society of Nephrology
, vol.19
, Issue.3
, pp. 639-646
-
-
Martinez-Barricarte, R.1
Pianetti, G.2
Gautard, R.3
Misselwitz, J.4
Strain, L.5
Fremeaux-Bacchi, V.6
Skerka, C.7
Zipfel, P.F.8
Goodship, T.9
Noris, M.10
Remuzzi, G.11
De Cordoba, S.R.12
-
30
-
-
0242601270
-
Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: The C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease
-
DOI 10.1093/hmg/ddg363
-
Caprioli J., Castelletti F., Bucchioni S., Bettinaglio P., Bresin E., Pianetti G., Gamba S., Brioschi S., Daina E., Remuzzi G., Noris M., Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease. Human Molecular Genetics 2003 12 24 3385 3395 2-s2.0-0242601270 10.1093/hmg/ddg363 (Pubitemid 37541083)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.24
, pp. 3385-3395
-
-
Caprioli, J.1
Castelletti, F.2
Bucchioni, S.3
Bettinaglio, P.4
Bresin, E.5
Pianetti, G.6
Gamba, S.7
Brioschi, S.8
Daina, E.9
Remuzzi, G.10
Noris, M.11
-
31
-
-
0033362094
-
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome
-
DOI 10.1086/302673
-
Ying L., Katz Y., Schlesinger M., Carmi R., Shalev H., Haider N., Beck G., Sheffield V. C., Landau D., Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. American Journal of Human Genetics 1999 65 6 1538 1546 2-s2.0-0033362094 10.1086/302673 (Pubitemid 30468666)
-
(1999)
American Journal of Human Genetics
, vol.65
, Issue.6
, pp. 1538-1546
-
-
Ying, L.1
Katz, Y.2
Schlesinger, M.3
Carmi, R.4
Shalev, H.5
Haider, N.6
Beck, G.7
Sheffield, V.C.8
Landau, D.9
-
32
-
-
77957575143
-
Variant-specific quantification of factor H in plasma identifies null alleles associated with atypical hemolytic uremic syndrome
-
2-s2.0-77957575143 10.1038/ki.2010.275
-
Hakobyan S., Tortajada A., Harris C. L., De Córdoba S. R., Morgan B. P., Variant-specific quantification of factor H in plasma identifies null alleles associated with atypical hemolytic uremic syndrome. Kidney International 2010 78 8 782 788 2-s2.0-77957575143 10.1038/ki.2010.275
-
(2010)
Kidney International
, vol.78
, Issue.8
, pp. 782-788
-
-
Hakobyan, S.1
Tortajada, A.2
Harris, C.L.3
De Córdoba, S.R.4
Morgan, B.P.5
-
33
-
-
72549097037
-
Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome
-
2-s2.0-72549097037 10.1111/j.1469-1809.2009.00554.x
-
Sullivan M., Erlic Z., Hoffmann M. M., Arbeiter K., Patzer L., Budde K., Hoppe B., Zeier M., Lhotta K., Rybicki L. A., Bock A., Berisha G., Neumann H. P. H., Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome. Annals of Human Genetics 2010 74 1 17 26 2-s2.0-72549097037 10.1111/j.1469-1809.2009.00554.x
-
(2010)
Annals of Human Genetics
, vol.74
, Issue.1
, pp. 17-26
-
-
Sullivan, M.1
Erlic, Z.2
Hoffmann, M.M.3
Arbeiter, K.4
Patzer, L.5
Budde, K.6
Hoppe, B.7
Zeier, M.8
Lhotta, K.9
Rybicki, L.A.10
Bock, A.11
Berisha, G.12
Neumann, H.P.H.13
-
35
-
-
79551595553
-
Alternative complement pathway assessment in patients with atypical HUS
-
2-s2.0-79551595553 10.1016/j.jim.2010.12.020
-
Roumenina L. T., Loirat C., Dragon-Durey M. A., Halbwachs-Mecarelli L., Sautes-Fridman C., Frémeaux-Bacchi V., Alternative complement pathway assessment in patients with atypical HUS. Journal of Immunological Methods 2011 365 1-2 8 26 2-s2.0-79551595553 10.1016/j.jim.2010.12.020
-
(2011)
Journal of Immunological 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
Frémeaux-Bacchi, V.6
-
36
-
-
84863338297
-
Complement factor H genetic variant and age-related macular degeneration: Effect size, modifiers and relationship to disease subtype
-
Sofat R., Casas J. P., Webster A. R., Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. International Journal of Epidemiology 2012 41 1 250 262
-
(2012)
International Journal of Epidemiology
, vol.41
, Issue.1
, pp. 250-262
-
-
Sofat, R.1
Casas, J.P.2
Webster, A.R.3
-
37
-
-
84864554927
-
Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies
-
Servais A., Noël L. H., Roumenina L. T., Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies. Kidney International 2012 82 4 454 464
-
(2012)
Kidney International
, vol.82
, Issue.4
, pp. 454-464
-
-
Servais, A.1
Noël, L.H.2
Roumenina, L.T.3
-
38
-
-
84855862414
-
A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome
-
Francis N. J., McNicholas B., Awan A., A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome. Blood 2012 119 2 591 601
-
(2012)
Blood
, vol.119
, Issue.2
, pp. 591-601
-
-
Francis, N.J.1
McNicholas, B.2
Awan, A.3
-
39
-
-
79955477674
-
CD46 in innate and adaptive immunity: An update
-
2-s2.0-79955477674 10.1111/j.1365-2249.2011.04400.x
-
Cardone J., Le Friec G., Kemper C., CD46 in innate and adaptive immunity: an update. Clinical and Experimental Immunology 2011 164 3 301 311 2-s2.0-79955477674 10.1111/j.1365-2249.2011.04400.x
-
(2011)
Clinical and Experimental Immunology
, vol.164
, Issue.3
, pp. 301-311
-
-
Cardone, J.1
Le Friec, G.2
Kemper, C.3
-
40
-
-
0242331610
-
Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome
-
DOI 10.1073/pnas.2135497100
-
Richards A., Kemp E. J., Liszewski M. K., Goodship J. A., Lampe A. K., Decorte R., Müslümanolu M. H., Kavukcu S., Filler G., Pirson Y., Wen L. S., Atkinson J. P., Goodship T. H. J., Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. Proceedings of the National Academy of Sciences of the United States of America 2003 100 22 12966 12971 2-s2.0-0242331610 10.1073/pnas.2135497100 (Pubitemid 37340009)
-
(2003)
Proceedings of the National Academy of Sciences of the United States of America
, vol.100
, Issue.22
, pp. 12966-12971
-
-
Richards, A.1
Kemp, E.J.2
Liszewski, M.K.3
Goodship, J.A.4
Lampe, A.K.5
Decorte, R.6
Muslumanoglu, M.H.7
Kavukcu, S.8
Filler, G.9
Pirson, Y.10
Wen, L.S.11
Atkinson, J.P.12
Goodship, T.H.J.13
-
41
-
-
0242570482
-
Familial haemolytic uraemic syndrome and an MCP mutation
-
DOI 10.1016/S0140-6736(03)14742-3
-
Noris M., Brioschi S., Caprioli J., Todeschini M., Bresin E., Porrati F., Gamba S., Remuzzi G., Familial haemolytic uraemic syndrome and an MCP mutation. The Lancet 2003 362 9395 1542 1547 2-s2.0-0242570482 10.1016/S0140-6736(03) 14742-3 (Pubitemid 37410193)
-
(2003)
Lancet
, vol.362
, Issue.9395
, pp. 1542-1547
-
-
Noris, M.1
Brioschi, S.2
Caprioli, J.3
Todeschini, M.4
Bresin, E.5
Porrati, F.6
Gamba, S.7
Remuzzi, G.8
-
42
-
-
33745812440
-
Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome
-
DOI 10.1681/ASN.2005101051
-
Frémeaux-Bacchi V., Moulton E. A., Kavanagh D., Dragon-Durey M. A., Blouin J., Caudy A., Arzouk N., Cleper R., Francois M., Guest G., Pourrat J., Seligman R., Fridman W. H., Loirat C., Atkinson J. P., Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. Journal of the American Society of Nephrology 2006 17 7 2017 2025 2-s2.0-33745812440 10.1681/ASN.2005101051 (Pubitemid 44036186)
-
(2006)
Journal of the American Society of Nephrology
, vol.17
, Issue.7
, pp. 2017-2025
-
-
Fremeaux-Bacchi, V.1
Moulton, E.A.2
Kavanagh, D.3
Dragon-Durey, M.-A.4
Blouin, J.5
Caudy, A.6
Arzouk, N.7
Cleper, R.8
Francois, M.9
Guest, G.10
Pourrat, J.11
Seligman, R.12
Fridman, W.H.13
Loirat, C.14
Atkinson, J.P.15
-
43
-
-
33644964155
-
Insights into hemolytic uremic syndrome: Segregation of three independent predisposition factors in a large, multiple affected pedigree
-
2-s2.0-33644964155 10.1016/j.molimm.2005.11.008
-
Esparza-Gordillo J., Jorge E. G. D., Garrido C. A., Carreras L., López-Trascasa M., Sánchez-Corral P., De Córdoba S. R., Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree. Molecular Immunology 2006 43 11 1769 1775 2-s2.0-33644964155 10.1016/j.molimm.2005.11.008
-
(2006)
Molecular Immunology
, vol.43
, Issue.11
, pp. 1769-1775
-
-
Esparza-Gordillo, J.1
Jorge, E.G.D.2
Garrido, C.A.3
Carreras, L.4
López-Trascasa, M.5
Sánchez-Corral, P.6
De Córdoba, S.R.7
-
44
-
-
83655163908
-
Manifestation of atypical hemolytic uremic syndrome caused by novel mutations in MCP
-
2-s2.0-79959435717 10.1007/s00467-011-1943-5
-
Provaznikova D., Rittich S., Malina M., Seeman T., Marinov I., Riedl M., Hrachovinova I., Manifestation of atypical hemolytic uremic syndrome caused by novel mutations in MCP. Pediatric Nephrology 2012 27 1 73 81 2-s2.0-79959435717 10.1007/s00467-011-1943-5
-
(2012)
Pediatric Nephrology
, vol.27
, Issue.1
, pp. 73-81
-
-
Provaznikova, D.1
Rittich, S.2
Malina, M.3
Seeman, T.4
Marinov, I.5
Riedl, M.6
Hrachovinova, I.7
-
45
-
-
27844526064
-
Emerging roles and new functions of CD46
-
DOI 10.1007/s00281-005-0002-3
-
Liszewski M. K., Kemper C., Price J. D., Atkinson J. P., Emerging roles and new functions of CD46. Springer Seminars in Immunopathology 2005 27 3 345 358 2-s2.0-27844526064 10.1007/s00281-005-0002-3 (Pubitemid 41639886)
-
(2005)
Springer Seminars in Immunopathology
, vol.27
, Issue.3
, pp. 345-358
-
-
Liszewski, M.K.1
Kemper, C.2
Price, J.D.3
Atkinson, J.P.4
-
46
-
-
33751035523
-
Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome
-
DOI 10.1016/j.molimm.2006.07.004, PII S0161589006002380
-
Richards A., Kathryn Liszewski M., Kavanagh D., Fang C. J., Moulton E., Frémeaux-Bacchi V., Remuzzi G., Noris M., Goodship T. H. J., Atkinson J. P., Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome. Molecular Immunology 2007 44 1-3 111 122 2-s2.0-33751035523 10.1016/j.molimm.2006.07.004 (Pubitemid 44754841)
-
(2007)
Molecular Immunology
, vol.44
, Issue.1-3
, pp. 111-122
-
-
Richards, A.1
Kathryn Liszewski, M.2
Kavanagh, D.3
Fang, C.J.4
Moulton, E.5
Fremeaux-Bacchi, V.6
Remuzzi, G.7
Noris, M.8
Goodship, T.H.J.9
Atkinson, J.P.10
-
47
-
-
33847237272
-
The interactive factor H-atypical hemolytic uremic syndrome mutation database and website: Update and integration of membrane cofactor protein and factor i mutations with structural models
-
2-s2.0-33847237272 10.1002/humu.20435
-
Saunders R. E., Abarrategui-Garrido C., Frémeaux-Bacchi V., Goicoechea De Jorge E., Goodship T. H. J., López Trascasa M., Noris M., Ponce Castro I. M., Remuzzi G., Rodríguez De Córdoba S., Sánchez-Corral P., Skerka C., Zipfel P. F., Perkins S. J., The interactive factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and factor I mutations with structural models. Human Mutation 2007 28 3 222 234 2-s2.0-33847237272 10.1002/humu.20435
-
(2007)
Human Mutation
, vol.28
, Issue.3
, pp. 222-234
-
-
Saunders, R.E.1
Abarrategui-Garrido, C.2
Frémeaux-Bacchi, V.3
Goicoechea De Jorge, E.4
Goodship, T.H.J.5
López Trascasa, M.6
Noris, M.7
Ponce Castro, I.M.8
Remuzzi, G.9
Rodríguez De Córdoba, S.10
Sánchez-Corral, P.11
Skerka, C.12
Zipfel, P.F.13
Perkins, S.J.14
-
48
-
-
14644424005
-
Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32
-
DOI 10.1093/hmg/ddi066
-
Esparza-Gordillo J., Goicoechea de Jorge E., Buil A., Berges L. C., López-Trascasa M., Sánchez-Corral P., Rodríguez de Córdoba S., Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32. Human Molecular Genetics 2005 14 5 703 712 2-s2.0-14644424005 10.1093/hmg/ddi066 (Pubitemid 40309595)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.5
, pp. 703-712
-
-
Esparza-Gordillo, J.1
Goicoechea De Jorge, E.2
Buil, A.3
Berges, L.C.4
Lopez-Trascasa, M.5
Sanchez-Corral, P.6
Rodriguez De Cordoba, S.7
-
49
-
-
84655168091
-
Common genetic variants in complement genes other than CFH, CD46 and the CFHRs are not associated with aHUS
-
Ermini L., Goodship T. H., Strain L., Common genetic variants in complement genes other than CFH, CD46 and the CFHRs are not associated with aHUS. Molecular Immunology 2012 49 4 640 648
-
(2012)
Molecular Immunology
, vol.49
, Issue.4
, pp. 640-648
-
-
Ermini, L.1
Goodship, T.H.2
Strain, L.3
-
50
-
-
54049137505
-
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome
-
2-s2.0-54049137505 10.1182/blood-2008-01-133702
-
Frémeaux-Bacchi V., Miller E. C., Liszewski M. K., Strain L., Blouin J., Brown A. L., Moghal N., Kaplan B. S., Weiss R. A., Lhotta K., Kapur G., Mattoo T., Nivet H., Wong W., Gie S., De Ligny B. H., Fischbach M., Gupta R., Hauhart R., Meunier V., Loirat C., Dragon-Durey M. A., Fridman W. H., Janssen B. J. C., Goodship T. H. J., Atkinson J. P., Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. Blood 2008 112 13 4948 4952 2-s2.0-54049137505 10.1182/blood-2008-01-133702
-
(2008)
Blood
, vol.112
, Issue.13
, pp. 4948-4952
-
-
Frémeaux-Bacchi, V.1
Miller, E.C.2
Liszewski, M.K.3
Strain, L.4
Blouin, J.5
Brown, A.L.6
Moghal, N.7
Kaplan, B.S.8
Weiss, R.A.9
Lhotta, K.10
Kapur, G.11
Mattoo, T.12
Nivet, H.13
Wong, W.14
Gie, S.15
De Ligny, B.H.16
Fischbach, M.17
Gupta, R.18
Hauhart, R.19
Meunier, V.20
Loirat, C.21
Dragon-Durey, M.A.22
Fridman, W.H.23
Janssen, B.J.C.24
Goodship, T.H.J.25
Atkinson, J.P.26
more..
-
51
-
-
70349923265
-
A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure
-
2-s2.0-70349923265 10.2215/CJN.06281208
-
Lhotta D. K., Janecke A. R., Scheiring J., Petzlberger B., Giner T., Fally V., Würzner R., Zimmerhackl L. B., Mayer G., Frémeaux-Bacchi V., A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure. Clinical Journal of the American Society of Nephrology 2009 4 8 1356 1362 2-s2.0-70349923265 10.2215/CJN.06281208
-
(2009)
Clinical Journal of the American Society of Nephrology
, vol.4
, Issue.8
, pp. 1356-1362
-
-
Lhotta, D.K.1
Janecke, A.R.2
Scheiring, J.3
Petzlberger, B.4
Giner, T.5
Fally, V.6
Würzner, R.7
Zimmerhackl, L.B.8
Mayer, G.9
Frémeaux-Bacchi, V.10
-
52
-
-
84856863401
-
A novel C3 mutation causing increased formation of the C3 convertase in familial atypical hemolytic uremic syndrome
-
Sartz L., Olin A. I., Kristoffersson A. C., A novel C3 mutation causing increased formation of the C3 convertase in familial atypical hemolytic uremic syndrome. Journal of Immunology 2012 188 4 2030 2037
-
(2012)
Journal of Immunology
, vol.188
, Issue.4
, pp. 2030-2037
-
-
Sartz, L.1
Olin, A.I.2
Kristoffersson, A.C.3
-
53
-
-
33846094404
-
Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome
-
DOI 10.1073/pnas.0603420103
-
Goicoechea de Jorge E., Harris C. L., Esparza-Gordillo J., Carreras L., Aller Arranz E., Abarrategui Garrido C., López-Trascasa M., Sánchez-Corral P., Morgan B. P., Rodríguez De Córdoba S., Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proceedings of the National Academy of Sciences of the United States of America 2007 104 1 240 245 2-s2.0-33846094404 10.1073/pnas.0603420103 (Pubitemid 46068016)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.1
, pp. 240-245
-
-
Goicoechea De Jorge, E.1
Harris, C.L.2
Esparza-Gordillo, J.3
Carreras, L.4
Aller Arranz, E.5
Abarrategui Garrido, C.6
Lopez-Trascasa, M.7
Sanchez-Corral, P.8
Morgan, B.P.9
Rodriguez De Cordoba, S.10
-
55
-
-
79960446438
-
Complement factor i in health and disease
-
Nilsson S. C., Sim R. B., Lea S. M., Complement factor I in health and disease. Molecular Immunology 2011 48 14 1611 1620
-
(2011)
Molecular Immunology
, vol.48
, Issue.14
, pp. 1611-1620
-
-
Nilsson, S.C.1
Sim, R.B.2
Lea, S.M.3
-
56
-
-
80053572803
-
Age-related penetrance of hereditary atypical hemolytic uremic syndrome
-
Sullivan M., Rybicki L. A., Winter A., Age-related penetrance of hereditary atypical hemolytic uremic syndrome. Annals of Human Genetics 2011 75 6 639 647
-
(2011)
Annals of Human Genetics
, vol.75
, Issue.6
, pp. 639-647
-
-
Sullivan, M.1
Rybicki, L.A.2
Winter, A.3
-
57
-
-
84860141031
-
A new era in the diagnosis and treatment of atypical haemolytic uraemic syndrome
-
Westra D., Wetzels J. F., Volokhina E. B., A new era in the diagnosis and treatment of atypical haemolytic uraemic syndrome. The Netherlands Journal of Medicine 2012 70 3 121 129
-
(2012)
The Netherlands Journal of Medicine
, vol.70
, Issue.3
, pp. 121-129
-
-
Westra, D.1
Wetzels, J.F.2
Volokhina, E.B.3
-
59
-
-
78650517945
-
New insights into postrenal transplant hemolytic uremic syndrome
-
2-s2.0-78650517945 10.1038/nrneph.2010.155
-
Zuber J., Le Quintrec M., Sberro-Soussan R., Loirat C., Frémeaux-Bacchi V., Legendre C., New insights into postrenal transplant hemolytic uremic syndrome. Nature Reviews Nephrology 2011 7 1 23 35 2-s2.0-78650517945 10.1038/nrneph.2010.155
-
(2011)
Nature Reviews Nephrology
, vol.7
, Issue.1
, pp. 23-35
-
-
Zuber, J.1
Le Quintrec, M.2
Sberro-Soussan, R.3
Loirat, C.4
Frémeaux- Bacchi, V.5
Legendre, C.6
-
60
-
-
65649106258
-
Liver-kidney transplantation to cure atypical hemolytic uremic syndrome
-
Saland J. M., Ruggenenti P., Remuzzi G., Consensus Study Group, Liver-kidney transplantation to cure atypical hemolytic uremic syndrome. Journal of the American Society of Nephrology 2009 20 5 940 949
-
(2009)
Journal of the American Society of Nephrology
, vol.20
, Issue.5
, pp. 940-949
-
-
Saland, J.M.1
Ruggenenti, P.2
Remuzzi, G.3
Study Group, C.4
|