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
  • [41] Atypical Hemolytic Uremic Syndrome-Associated Variants and Autoantibodies Impair Binding of Factor H and Factor H-Related Protein 1 to Pentraxin 3
    Kopp, Anne
    Strobel, Stefanie
    Tortajada, Agustin
    Rodriguez de Cordoba, Santiago
    Sanchez-Corral, Pilar
    Prohaszka, Zoltan
    Lopez-Trascasa, Margarita
    Jozsi, Mihaly
    JOURNAL OF IMMUNOLOGY, 2012, 189 (04): : 1858 - 1867
  • [42] Long-term remission of atypical HUS with anti-factor H antibodies after cyclophosphamide pulses
    Sana, Gwenaelle
    Dragon-Durey, Marie-Agnes
    Charbit, Marina
    Bouchireb, Karim
    Rousset-Rouviere, Caroline
    Berard, Etienne
    Salomon, Remi
    Fremeaux-Bacchi, Veronique
    Niaudet, Patrick
    Boyer, Olivia
    PEDIATRIC NEPHROLOGY, 2014, 29 (01) : 75 - 83
  • [43] Post-Transplant Intercurrent Thrombocytopenia Complicating Transient Viral Infections in a Child with Factor H Associated Atypical HUS (aHUS) on Maintenance Eculizumab Therapy
    Coppo, Rosanna
    Amore, Alessandro
    Bonaudo, Roberto
    Camilla, Roberta
    Peruzzi, Licia
    Guido, Giuliana
    Noris, Marina
    Gotti, Eliana
    Ruggenenti, Piero
    Remuzzi, Giuseppe
    PEDIATRIC NEPHROLOGY, 2013, 28 (08) : 1572 - 1572
  • [44] Complement dysregulation associated with a genetic variant in factor H-related protein 5 in atypical hemolytic uremic syndrome
    Sigridur Sunna Aradottir
    Ann-Charlotte Kristoffersson
    Erik Linnér
    Diana Karpman
    Pediatric Nephrology, 2024, 39 : 1105 - 1111
  • [45] Spectrum of large deletions and gene conversion events in factor H and CFHR1 genes in atypical HUS
    Fremeaux-Bacchi, Veronique
    Martini, Paula Vierra
    Beury, Delphine
    Ngo, Stephanie
    Roumenina, Lubka T.
    MOLECULAR IMMUNOLOGY, 2014, 61 (02) : 229 - 229
  • [46] Complement dysregulation associated with a genetic variant in factor H-related protein 5 in atypical hemolytic uremic syndrome
    Aradottir, Sigridur Sunna
    Kristoffersson, Ann-Charlotte
    Linner, Erik
    Karpman, Diana
    PEDIATRIC NEPHROLOGY, 2024, 39 (04) : 1105 - 1111
  • [47] Variant-specific quantification of factor H in plasma identifies null alleles associated with atypical hemolytic uremic syndrome
    Hakobyan, Svetlana
    Tortajada, Agustin
    Harris, Claire L.
    de Cordoba, Santiago R.
    Morgan, Bryan P.
    KIDNEY INTERNATIONAL, 2010, 78 (08) : 782 - 788
  • [48] Use of Eculizumab in atypical haemolyticuraemic syndrome associated with complement factor B variant
    Teoh, Chia Wei
    Bates, Marie
    Walsh, Brian
    Lynch, Brian
    Menavari, Ahmad
    Goodship, Tim
    Dolan, Niamh Marie
    Riordan, Michael
    Waldron, Mary
    Awan, Atif
    PEDIATRIC NEPHROLOGY, 2013, 28 (08) : 1567 - 1567
  • [49] Successful Renal Transplantation in Factor H Autoantibody Associated HUS with CFHR1 and 3 Deficiency and CFH Variant G2850T
    Waters, A. M.
    Pappworth, I.
    Marchbank, K.
    Bockenhauer, D.
    Tullus, K.
    Pickering, M. C.
    Strain, L.
    Sebire, N.
    Shroff, R.
    Marks, S. D.
    Goodship, T. H. J.
    Rees, L.
    AMERICAN JOURNAL OF TRANSPLANTATION, 2010, 10 (01) : 168 - 172
  • [50] Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration
    Triebwasser, Michael P.
    Roberson, Elisha D. O.
    Yu, Yi
    Schramm, Elizabeth C.
    Wagner, Erin K.
    Raychaudhuri, Soumya
    Seddon, Johanna M.
    Atkinson, John P.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (11) : 6873 - 6878
12345