Functional characterization of 105 Factor H variants associated with atypical HUS: lessons for variant classification

被引:0
|
作者
Merinero, Hector Martin [1 ,2 ]
Zhang, Yuzhou [3 ]
Bolanos, Emilia Arjona [1 ,2 ]
Goodfellow, Renee [3 ]
Michelena, Malkoa [1 ,4 ]
Smith, Richard J. H. [3 ]
de Cordoba, Santiago Rodriguez [1 ,2 ]
机构
[1] Ctr Invest Biomed Red Enfermedades Raras, Madrid, Spain
[2] CSIC, Ctr Invest Biol Margarita Salas, Madrid, Spain
[3] Univ Iowa, Carver Coll Med, Mol Otolaryngol & Renal Res Labs, Iowa City, IA USA
[4] Consejo Super Invest Biol, Ctr Invest Biol Margarita Salas, Madrid, Spain
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
86
引用
收藏
页码:177 / 177
页数:1
相关论文
共 50 条
  • [1] Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification
    Martin Merinero, Hector
    Zhang, Yuzhou
    Arjona, Emilia
    Del Angel, Guillermo
    Goodfellow, Renee
    Gomez-Rubio, Elena
    Ji, Rui-Ru
    Michelena, Malkoa
    Smith, Richard J. H.
    Rodriguez de Cordoba, Santiago
    BLOOD, 2021, 138 (22) : 2185 - 2201
  • [2] Myocardial infarction is a complication of factor H-associated atypical HUS
    Sallee, Marion
    Daniel, Laurent
    Piercecchi, Marie-Dominique
    Jaubert, Dominique
    Fremeaux-Bacchi, Veronique
    Berland, Yvon
    Burtey, Stephane
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2010, 25 (06) : 2028 - 2032
  • [3] LDLR variants functional characterization: Contribution to variant classification
    Alves, Ana Catarina
    Azevedo, Silvia
    Benito-Vicente, Asier
    Graca, Rafael
    Galicia-Garcia, Unai
    Barros, Patricia
    Jordan, Peter
    Martin, Cesar
    Bourbon, Mafalda
    ATHEROSCLEROSIS, 2021, 329 : 14 - 21
  • [4] Complement factor H deficiency and atypical HUS
    Tim Vyse
    Arthritis Research & Therapy, 2 (1)
  • [5] Actual and future strategies for transplantation in atypical HUS associated with mutations in factor H
    Riedl, Magdalena
    Rosales, Alejandra
    Zimmerhackl, Lothar Bernd
    Jungraithmayr, Therese
    PEDIATRIC TRANSPLANTATION, 2011, 15 (03) : 225 - 228
  • [6] Platelet-associated complement factor H in healthy persons and patients with atypical HUS
    Licht, Christoph
    Pluthero, Fred G.
    Li, Ling
    Christensen, Hilary
    Habbig, Sandra
    Hoppe, Bernd
    Geary, Denis F.
    Zipfel, Peter F.
    Kahr, Walter H. A.
    BLOOD, 2009, 114 (20) : 4538 - 4545
  • [7] Platelet-associated complement factor H in normal individuals and patients with atypical HUS
    Licht, C.
    Pluthero, F. G.
    Zipfel, F. G.
    Kahr, W. H. A.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2009, 7 : 175 - 175
  • [8] Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome
    Sánchez-Corral, P
    Pérez-Caballero, D
    Huarte, O
    Simckes, AM
    Goicoechea, E
    López-Trascasa, M
    de Córdoba, SR
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (06) : 1285 - 1295
  • [9] Complement Factor H in Human Platelets: Implications for Atypical HUS
    Kahr, Walter H. A.
    Pluthero, Fred G.
    Licht, Christoph
    BLOOD, 2008, 112 (11) : 645 - 646
  • [10] Functional characterization of Factor H in atypical hemolytic uremic syndrome
    Sánchez-Corral, P
    Pérez-Caballero, D
    González-Rubio, CL
    López-Trascasa, M
    de Córdoba, SR
    MOLECULAR IMMUNOLOGY, 2001, 38 (2-3) : 121 - 121