Literature DB >> 24333077

Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.

Preeti Chaudhary1, Mehmet Hepgur1, Sarmen Sarkissian2, Richard J H Smith3, Ilene C Weitz1.   

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Year:  2013        PMID： 24333077      PMCID： PMC3926711          DOI： 10.2450/2013.0107-13

Source DB:  PubMed          Journal:  Blood Transfus        ISSN： 1723-2007            Impact factor:   3.443


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  13 in total

1.  aHUS: a disorder with many risk factors.

Authors:  Santiago Rodríguez de Córdoba
Journal:  Blood       Date:  2010-01-14       Impact factor: 22.113

Review 2.  Atypical hemolytic-uremic syndrome.

Authors:  Marina Noris; Giuseppe Remuzzi
Journal:  N Engl J Med       Date:  2009-10-22       Impact factor: 91.245

3.  Genetic studies into inherited and sporadic hemolytic uremic syndrome.

Authors:  P Warwicker; T H Goodship; R L Donne; Y Pirson; A Nicholls; R M Ward; P Turnpenny; J A Goodship
Journal:  Kidney Int       Date:  1998-04       Impact factor: 10.612

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

Authors:  Marina Noris; Jessica Caprioli; Elena Bresin; Chiara Mossali; Gaia Pianetti; Sara Gamba; Erica Daina; Chiara Fenili; Federica Castelletti; Annalisa Sorosina; Rossella Piras; Roberta Donadelli; Ramona Maranta; Irene van der Meer; Edward M Conway; Peter F Zipfel; Timothy H Goodship; Giuseppe Remuzzi
Journal:  Clin J Am Soc Nephrol       Date:  2010-07-01       Impact factor: 8.237

5.  Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations.

Authors:  Fadi Fakhouri; Lubka Roumenina; François Provot; Marion Sallée; Sophie Caillard; Lionel Couzi; Marie Essig; David Ribes; Marie-Agnès Dragon-Durey; Frank Bridoux; Eric Rondeau; Veronique Frémeaux-Bacchi
Journal:  J Am Soc Nephrol       Date:  2010-03-04       Impact factor: 10.121

Review 6.  Genetics and complement in atypical HUS.

Authors:  David Kavanagh; Tim Goodship
Journal:  Pediatr Nephrol       Date:  2010-06-06       Impact factor: 3.714

7.  Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency.

Authors:  Mihály Józsi; Christoph Licht; Stefanie Strobel; Svante L H Zipfel; Heiko Richter; Stefan Heinen; Peter F Zipfel; Christine Skerka
Journal:  Blood       Date:  2007-11-15       Impact factor: 22.113

8.  Factor H-related protein 1 (CFHR-1) inhibits complement C5 convertase activity and terminal complex formation.

Authors:  Stefan Heinen; Andrea Hartmann; Nadine Lauer; Ulrike Wiehl; Hans-Martin Dahse; Sylvia Schirmer; Katharina Gropp; Tina Enghardt; Reinhard Wallich; Steffi Hälbich; Michael Mihlan; Ursula Schlötzer-Schrehardt; Peter F Zipfel; Christine Skerka
Journal:  Blood       Date:  2009-06-15       Impact factor: 22.113

9.  Disease-associated N-terminal complement factor H mutations perturb cofactor and decay-accelerating activities.

Authors:  Isabell C Pechtl; David Kavanagh; Nicola McIntosh; Claire L Harris; Paul N Barlow
Journal:  J Biol Chem       Date:  2011-01-26       Impact factor: 5.157

10.  Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.

Authors:  Peter F Zipfel; Matthew Edey; Stefan Heinen; Mihály Józsi; Heiko Richter; Joachim Misselwitz; Bernd Hoppe; Danny Routledge; Lisa Strain; Anne E Hughes; Judith A Goodship; Christoph Licht; Timothy H J Goodship; Christine Skerka
Journal:  PLoS Genet       Date:  2007-02-01       Impact factor: 5.917
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  4 in total

Review 1.  An international consensus approach to the management of atypical hemolytic uremic syndrome in children.

Authors:  Chantal Loirat; Fadi Fakhouri; Gema Ariceta; Nesrin Besbas; Martin Bitzan; Anna Bjerre; Rosanna Coppo; Francesco Emma; Sally Johnson; Diana Karpman; Daniel Landau; Craig B Langman; Anne-Laure Lapeyraque; Christoph Licht; Carla Nester; Carmine Pecoraro; Magdalena Riedl; Nicole C A J van de Kar; Johan Van de Walle; Marina Vivarelli; Véronique Frémeaux-Bacchi
Journal:  Pediatr Nephrol       Date:  2015-04-11       Impact factor: 3.714

2.  New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3.

Authors:  Elizabeth Rodriguez; Pavithra M Rallapalli; Amy J Osborne; Stephen J Perkins
Journal:  Biosci Rep       Date:  2014-10-22       Impact factor: 3.840

3.  Current evidence on the discontinuation of eculizumab in patients with atypical haemolytic uraemic syndrome.

Authors:  Manuel Macia; Fernando de Alvaro Moreno; Tina Dutt; Ingela Fehrman; Karine Hadaya; Christoph Gasteyger; Nils Heyne
Journal:  Clin Kidney J       Date:  2016-12-22

4.  Atypical HUS Triggered by COVID-19: A Case Report.

Authors:  Vaibhav Tiwari; Gaurav Bhandari; Anurag Gupta; Pallav Gupta; Vinant Bhargava; Manish Malik; Ashwini Gupta; Anil K Bhalla; Devinder S Rana
Journal:  Indian J Nephrol       Date:  2022-05-20
  4 in total

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