Literature DB >> 10762557

Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.

M R Buddles, R L Donne, A Richards, J Goodship, T H Goodship.   

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Year:  2000        PMID： 10762557      PMCID： PMC1378030          DOI： 10.1086/302877

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  17 in total

Review 1.  Complement control protein factor H: the good, the bad, and the inadequate.

Authors:  Viviana P Ferreira; Michael K Pangburn; Claudio Cortés
Journal:  Mol Immunol       Date:  2010-08       Impact factor: 4.407

2.  Eculizumab in neonatal hemolytic uremic syndrome with homozygous factor H deficiency.

Authors:  Katell Michaux; Justine Bacchetta; Etienne Javouhey; Pierre Cochat; Véronique Frémaux-Bacchi; Anne-Laure Sellier-Leclerc
Journal:  Pediatr Nephrol       Date:  2014-08-23       Impact factor: 3.714

Review 3.  Current treatment of atypical hemolytic uremic syndrome.

Authors:  Bernard S Kaplan; Rebecca L Ruebner; Joann M Spinale; Lawrence Copelovitch
Journal:  Intractable Rare Dis Res       Date:  2014-05

Review 4.  Complement factor H in AMD: Bridging genetic associations and pathobiology.

Authors:  Christopher B Toomey; Lincoln V Johnson; Catherine Bowes Rickman
Journal:  Prog Retin Eye Res       Date:  2017-09-18       Impact factor: 21.198

5.  Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome.

Authors:  Pilar Sánchez-Corral; David Pérez-Caballero; Olatz Huarte; Ari M Simckes; Elena Goicoechea; Margarita López-Trascasa; Santiago Rodríguez de Córdoba
Journal:  Am J Hum Genet       Date:  2002-11-06       Impact factor: 11.025

Review 6.  The Genetics of Ultra-Rare Renal Disease.

Authors:  Melissa Muff-Luett; Carla M Nester
Journal:  J Pediatr Genet       Date:  2016-02-23

Review 7.  Pathogenesis of thrombotic microangiopathies.

Authors:  X Long Zheng; J Evan Sadler
Journal:  Annu Rev Pathol       Date:  2008       Impact factor: 23.472

8.  Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome.

Authors:  Tamara Manuelian; Jens Hellwage; Seppo Meri; Jessica Caprioli; Marina Noris; Stefan Heinen; Mihaly Jozsi; Hartmut P H Neumann; Giuseppe Remuzzi; Peter F Zipfel
Journal:  J Clin Invest       Date:  2003-04       Impact factor: 14.808

9.  Serum cystatin C level, kidney disease markers, and incidence of age-related macular degeneration: the Beaver Dam Eye Study.

Authors:  Ronald Klein; Michael D Knudtson; Kristine E Lee; Barbara E K Klein
Journal:  Arch Ophthalmol       Date:  2009-02

10.  The central portion of factor H (modules 10-15) is compact and contains a structurally deviant CCP module.

Authors:  Christoph Q Schmidt; Andrew P Herbert; Haydyn D T Mertens; Mara Guariento; Dinesh C Soares; Dusan Uhrin; Arthur J Rowe; Dmitri I Svergun; Paul N Barlow
Journal:  J Mol Biol       Date:  2009-10-14       Impact factor: 5.469
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