Literature DB >> 25381125

A novel CD46 mutation in a patient with microangiopathy clinically resembling thrombotic thrombocytopenic purpura and normal ADAMTS13 activity.

Raffaella Rossio1, Luca Andrea Lotta1, Silvia Pontiggia1, Nicolò Ghiringhelli Borsa2, Isabella Garagiola1, Gianluigi Ardissino3, Danijela Mikovic4, Massimo Cugno5, Flora Peyvandi6.   

Abstract

Entities:  

Keywords:  TTP; complement abnormalities

Mesh：

Substances：

Year:  2014        PMID： 25381125      PMCID： PMC4349284          DOI： 10.3324/haematol.2014.111062

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  15 in total

Review 1.  Clinical practice. Thrombotic thrombocytopenic purpura.

Authors:  James N George
Journal:  N Engl J Med       Date:  2006-05-04       Impact factor: 91.245

Review 2.  Thrombotic thrombocytopenic purpura and the hemolytic uremic syndrome: much progress and many remaining issues.

Authors:  Pier Mannuccio Mannucci
Journal:  Haematologica       Date:  2007-07       Impact factor: 9.941

3.  Complement functional tests for monitoring eculizumab treatment in patients with atypical hemolytic uremic syndrome.

Authors:  M Cugno; R Gualtierotti; I Possenti; S Testa; F Tel; S Griffini; E Grovetti; S Tedeschi; S Salardi; D Cresseri; P Messa; G Ardissino
Journal:  J Thromb Haemost       Date:  2014-07-16       Impact factor: 5.824

Review 4.  Atypical hemolytic-uremic syndrome.

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

5.  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

Review 6.  Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome.

Authors:  Anna Richards; M Kathryn Liszewski; David Kavanagh; Celia J Fang; Elizabeth Moulton; Veronique Fremeaux-Bacchi; Giuseppe Remuzzi; Marina Noris; Timothy H J Goodship; John P Atkinson
Journal:  Mol Immunol       Date:  2006-08-01       Impact factor: 4.407

7.  Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome.

Authors:  Véronique Fremeaux-Bacchi; Elizabeth A Moulton; David Kavanagh; Marie-Agnès Dragon-Durey; Jacques Blouin; Amy Caudy; Nadia Arzouk; Roxanna Cleper; Maud Francois; Genevieve Guest; Jacques Pourrat; Roland Seligman; Wolf Herman Fridman; Chantal Loirat; John P Atkinson
Journal:  J Am Soc Nephrol       Date:  2006-06-08       Impact factor: 10.121

8.  Antibodies to von Willebrand factor-cleaving protease in acute thrombotic thrombocytopenic purpura.

Authors:  H M Tsai; E C Lian
Journal:  N Engl J Med       Date:  1998-11-26       Impact factor: 91.245

9.  von Willebrand factor cleaving protease (ADAMTS13) is deficient in recurrent and familial thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.

Authors:  Giuseppe Remuzzi; Miriam Galbusera; Marina Noris; Maria Teresa Canciani; Erica Daina; Elena Bresin; Silvia Contaretti; Jessica Caprioli; Sara Gamba; Piero Ruggenenti; Norberto Perico; Pier Mannuccio Mannucci
Journal:  Blood       Date:  2002-08-01       Impact factor: 22.113

10.  ADAMTS13 and anti-ADAMTS13 antibodies as markers for recurrence of acquired thrombotic thrombocytopenic purpura during remission.

Authors:  Flora Peyvandi; Silvia Lavoretano; Roberta Palla; Hendrik B Feys; Karen Vanhoorelbeke; Tullia Battaglioli; Carla Valsecchi; Maria Teresa Canciani; Fabrizio Fabris; Samo Zver; Marienn Réti; Danijela Mikovic; Mehran Karimi; Gaetano Giuffrida; Luca Laurenti; Pier Mannuccio Mannucci
Journal:  Haematologica       Date:  2008-01-26       Impact factor: 9.941
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  1 in total

Review 1.  Complement regulator CD46: genetic variants and disease associations.

Authors:  M Kathryn Liszewski; John P Atkinson
Journal:  Hum Genomics       Date:  2015-06-10       Impact factor: 4.639
  1 in total

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