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
来源：
MOLECULAR IMMUNOLOGY | 2022年 / 141卷
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
  • [31] Use of eculizumab and plasma exchange in successful combined liver–kidney transplantation in a case of atypical HUS associated with complement factor H mutation
    Ha Tran
    Abanti Chaudhuri
    Waldo Concepcion
    Paul C. Grimm
    Pediatric Nephrology, 2014, 29 : 477 - 480
  • [32] Functional characterisation of a novel hybrid complement factor H protein associated with atypical haemolytic uraemic
    Francis, N.
    McNicholas, B.
    Awan, A.
    Waldron, M.
    Reddan, D.
    Sadlier, D.
    Kavanagh, D.
    Strain, L.
    Marchbank, K.
    Goodship, T.
    Harris, C.
    IMMUNOLOGY, 2010, 131 : 46 - 46
  • [33] Functional characterization of atypical somatic variants in the Gundersen Precision Oncology Cohort
    Feiszt, Peter
    Kenny, Paraic A.
    CANCER RESEARCH, 2024, 84 (06)
  • [34] Complement Factor H in human platelets: clues for atypical HUS pathogenesis independent of endothelial cell damage
    Licht, C.
    Pluthero, F. G.
    Zipfel, P. F.
    Kahr, H.
    PEDIATRIC NEPHROLOGY, 2009, 24 (04) : 886 - 886
  • [35] Atypical HUS due to factor H autoantibodies and deficiency of factor H-related proteins CFHR1 and CFHR3
    Wigger, M.
    Muscheitis, J.
    Drueckler, E.
    Warnke, G.
    Joszi, M.
    Skerka, C.
    Zipfel, P.
    Haffner, D.
    PEDIATRIC NEPHROLOGY, 2008, 23 (09) : 1597 - 1597
  • [36] Use of eculizumab and plasma exchange in successful combined liver-kidney transplantation in a case of atypical HUS associated with complement factor H mutation
    Tran, Ha
    Chaudhuri, Abanti
    Concepcion, Waldo
    Grimm, Paul C.
    PEDIATRIC NEPHROLOGY, 2014, 29 (03) : 477 - 480
  • [37] Clinical characterization of patients with SHOX variants regarding their functional classification
    Rodriguez Barrios, Carmen
    Dominguez Riscart, Jesus
    Garcia Zarzuela, Ana
    Arellano Ruis, Paola
    Heath, Karen
    Lechuga-Sancho, Alfonso M.
    HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 310 - 310
  • [38] Complement factor H variants I890 and L1007 while commonly associated with atypical hemolytic uremic syndrome are polymorphisms with no functional significance
    Tortajada, Agustin
    Pinto, Sheila
    Martinez-Ara, Jorge
    Lopez-Trascasa, Margarita
    Sanchez-Corral, Pilar
    Rodriguez de Cordoba, Santiago
    KIDNEY INTERNATIONAL, 2012, 81 (01) : 56 - 63
  • [39] Rituximab to Abbreviate Plasma Exchange in Anti-CFH (Complement Factor H) Antibody Mediated Atypical HUS
    Mittal, Aliza
    Dijoo, Munawer
    Aggarwal, Sandeep
    Gulati, Sanjeev
    IRANIAN JOURNAL OF KIDNEY DISEASES, 2019, 13 (02) : 134 - 138
  • [40] Long-term remission of atypical HUS with anti-factor H antibodies after cyclophosphamide pulses
    Gwenaëlle Sana
    Marie-Agnès Dragon-Durey
    Marina Charbit
    Karim Bouchireb
    Caroline Rousset-Rouvière
    Etienne Bérard
    Rémi Salomon
    Véronique Frémeaux-Bacchi
    Patrick Niaudet
    Olivia Boyer
    Pediatric Nephrology, 2014, 29 : 75 - 83
12345