CFHbase mutation publications [2010] [2009] [2008] [2006] [2005] [2004] [2003] [2002] [2001] [2000] [1999] [1998] [1997] Search PubMed latest citations for CFH mutations 2010 A favorable 3-year outcome of kidney transplantation in atypical hemolytic uremic syndrome associated with a factor H mutation: case report. Albertazzi V, Bonucchi D, De Amicis S, Americo C, Ghiandai G, Cappelli G Transplant Proc 2010(4): 1352-4 [PubMed abstract]. 2009 Haemolytic uraemic syndrome caused by factor H mutation: is single kidney transplantation under intensive plasmatherapy an option? Hirt-Minkowski P, Schaub S, Mayr M, Schifferli JA, Dickenmann M, Frémeaux-Bacchi V, Steiger J Nephrol Dial Transplant 2009(11): 3548-51 [PubMed abstract]. Successful split liver-kidney transplant for factor H associated hemolytic uremic syndrome. Saland JM, Shneider BL, Bromberg JS, Shi PA, Ward SC, Magid MS, Benchimol C, Seikaly MG, Emre SH, Bresin E, Remuzzi G Clin J Am Soc Nephrol 2009(1): 201-6 [PubMed abstract]. 2008 Successful liver-kidney transplantation in two children with aHUS caused by a mutation in complement factor H. Jalanko H, Peltonen S, Koskinen A, Puntila J, Isoniemi H, Holmberg C, Pinomäki A, Armstrong E, Koivusalo A, Tukiainen E, Mäkisalo H, Saland J, Remuzzi G, de Cordoba S, Lassila R, Meri S, Jokiranta TS Am J Transplant 2008(1): 216-21 [PubMed abstract]. Basal laminar drusen caused by compound heterozygous variants in the CFH gene. Boon CJ, Klevering BJ, Hoyng CB, Zonneveld-Vrieling MN, Nabuurs SB, Blokland E, Cremers FP, den Hollander AI Am J Hum Genet 2008(2): 516-23 [PubMed abstract]. Complement mutation-associated de novo thrombotic microangiopathy following kidney transplantation. Le Quintrec M, Lionet A, Kamar N, Karras A, Barbier S, Buchler M, Fakhouri F, Provost F, Fridman WH, Thervet E, Legendre C, Zuber J, Frémeaux-Bacchi V Am J Transplant 2008(8): 1694-701 [PubMed abstract]. Complement factor H deficiency and posttransplantation glomerulonephritis with isolated C3 deposits. Boyer O, Noël LH, Balzamo E, Guest G, Biebuyck N, Charbit M, Salomon R, Frémeaux-Bacchi V, Niaudet P Am J Kidney Dis 2008(4): 671-7 [PubMed abstract]. Genetic deficiency of complement factor H in a patient with age-related macular degeneration and membranoproliferative glomerulonephritis. Montes T, Goicoechea de Jorge E, Ramos R, Gomà M, Pujol O, Sánchez-Corral P, Rodríguez de Córdoba S Mol Immunol 2008(10): 2897-904 [PubMed abstract]. Plasma therapy in atypical haemolytic uremic syndrome: lessons from a family with a factor H mutation. Davin JC, Strain L, Goodship TH Pediatr Nephrol 2008(9): 1517-21 [PubMed abstract]. 2006 Complement factor H-associated atypical hemolytic uremic syndrome in monozygotic twins: concordant presentation, discordant response to treatment. Davin JC, Olie KH, Verlaak R, Horuz F, Florquin S, Weening JJ, Groothoff JW, Strain L, Goodship TH Am J Kidney Dis 2006(2): e27-30 [PubMed abstract]. 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(10): e431 [PubMed abstract]. 2005 Posttransplantation cytomegalovirus-induced recurrence of atypical hemolytic uremic syndrome associated with a factor H mutation: successful treatment with intensive plasma exchanges and ganciclovir. Olie KH, Goodship TH, Verlaak R, Florquin S, Groothoff JW, Strain L, Weening JJ, Davin JC Am J Kidney Dis 2005(1): e12-5 [PubMed abstract]. Successful plasma therapy for atypical hemolytic uremic syndrome caused by factor H deficiency owing to a novel mutation in the complement cofactor protein domain 15. Licht C, Weyersberg A, Heinen S, Stapenhorst L, Devenge J, Beck B, Waldherr R, Kirschfink M, Zipfel PF, Hoppe B Am J Kidney Dis 2005(2): 415-21 [PubMed abstract]. 2004 The human complement factor H: functional roles, genetic variations and disease associations. Rodríguez de Córdoba S, Esparza-Gordillo J, Goicoechea de Jorge E, Lopez-Trascasa M, Sánchez-Corral P Mol Immunol 2004(4): 355-67 [PubMed abstract]. 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(3): 787-95 [PubMed abstract]. Atypical relapse of hemolytic uremic syndrome after transplantation. Olie KH, Florquin S, Groothoff JW, Verlaak R, Strain L, Goodship TH, Weening JJ, Davin JC Pediatr Nephrol 2004(10): 1173-6 [PubMed abstract]. 2003 Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries. Neumann HP, Salzmann M, Bohnert-Iwan B, Mannuelian T, Skerka C, Lenk D, Bender BU, Cybulla M, Riegler P, Königsrainer A, Neyer U, Bock A, Widmer U, Male DA, Franke G, Zipfel PF J Med Genet 2003(9): 676-81 [PubMed abstract]. 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, Caprioli J, Noris M, Heinen S, Jozsi M, Neumann HP, Remuzzi G, Zipfel PF J Clin Invest 2003(8): 1181-90 [PubMed abstract]. 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. Caprioli J, Castelletti F, Bucchioni S, Bettinaglio P, Bresin E, Pianetti G, Gamba S, Brioschi S, Daina E, Remuzzi G, Noris M, Hum Mol Genet 2003(24): 3385-95 [PubMed abstract]. 2002 Combined kidney and liver transplantation for familial haemolytic uraemic syndrome. Remuzzi G, Ruggenenti P, Codazzi D, Noris M, Caprioli J, Locatelli G, Gridelli B Lancet 2002(9318): 1671-2 [PubMed abstract]. 2001 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, J Am Soc Nephrol 2001(2): 297-307 [PubMed abstract]. 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(2): 485-90 [PubMed abstract]. 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(2): 478-84 [PubMed abstract]. 2000 Molecular basis for factor H and FHL-1 deficiency in an Italian family. Sánchez-Corral P, Bellavia D, Amico L, Brai M, Rodríguez de Córdoba S Immunogenetics 2000(4-5): 366-9 [PubMed abstract]. 1999 Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. Ying L, Katz Y, Schlesinger M, Carmi R, Shalev H, Haider N, Beck G, Sheffield VC, Landau D Am J Hum Genet 1999(6): 1538-46 [PubMed abstract]. 1998 Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased factor H. Ohali M, Shalev H, Schlesinger M, Katz Y, Kachko L, Carmi R, Sofer S, Landau D Pediatr Nephrol 1998(8): 619-24 [PubMed abstract]. 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(4): 836-44 [PubMed abstract]. 1997 Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism. Ault BH, Schmidt BZ, Fowler NL, Kashtan CE, Ahmed AE, Vogt BA, Colten HR J Biol Chem 1997(40): 25168-75 [PubMed abstract].