Microhomology-mediated end joining: Good, bad and ugly

JH Seol, EY Shim, SE Lee - Mutation Research/Fundamental and …, 2018 - Elsevier
DNA double-strand breaks (DSBs) are induced by a variety of genotoxic agents, including
ionizing radiation and chemotherapy drugs for treating cancers. The elimination of DSBs …

Atypical aHUS: state of the art

CM Nester, T Barbour, SR de Cordoba… - Molecular …, 2015 - Elsevier
Tremendous advances in our understanding of the thrombotic microangiopathies (TMAs)
have revealed distinct disease mechanisms within this heterogeneous group of diseases. As …

Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype

E Bresin, E Rurali, J Caprioli… - Journal of the …, 2013 - journals.lww.com
Several abnormalities in complement genes reportedly contribute to atypical hemolytic
uremic syndrome (aHUS), but incomplete penetrance suggests that additional factors are …

[HTML][HTML] Atypical hemolytic uremic syndrome

D Kavanagh, TH Goodship, A Richards - Seminars in nephrology, 2013 - Elsevier
Hemolytic uremic syndrome (HUS) is a triad of microangiopathic hemolytic anemia,
thrombocytopenia, and acute renal failure. The atypical form of HUS is a disease …

[HTML][HTML] Complement factor H related proteins (CFHRs)

C Skerka, Q Chen, V Fremeaux-Bacchi… - Molecular …, 2013 - Elsevier
Factor H related proteins comprise a group of five plasma proteins: CFHR1, CFHR2,
CFHR3, CFHR4 and CFHR5, and each member of this group binds to the central …

Complement factor H in host defense and immune evasion

R Parente, SJ Clark, A Inforzato, AJ Day - Cellular and Molecular Life …, 2017 - Springer
Complement is the major humoral component of the innate immune system. It recognizes
pathogen-and damage-associated molecular patterns, and initiates the immune response in …

Hemolytic uremic syndrome

C Mele, G Remuzzi, M Noris - Seminars in immunopathology, 2014 - Springer
Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy defined by
thrombocytopenia, nonimmune microangiopathic hemolytic anemia, and acute renal failure …

Thrombotic microangiopathy and associated renal disorders

T Barbour, S Johnson, S Cohney… - Nephrology Dialysis …, 2012 - academic.oup.com
Thrombotic microangiopathy (TMA) is a pathological process involving thrombocytopenia,
microangiopathic haemolytic anaemia and microvascular occlusion. TMA is common to …

Genetic variability shapes the alternative pathway complement activity and predisposition to complement‐related diseases

S Rodríguez de Córdoba - Immunological Reviews, 2023 - Wiley Online Library
The implementation of next‐generation sequencing technologies has provided a sharp
picture of the genetic variability in the components and regulators of the alternative pathway …

Hemolytic uremic syndrome in pregnancy and postpartum

A Bruel, D Kavanagh, M Noris, Y Delmas… - Clinical Journal of the …, 2017 - journals.lww.com
Background Pregnancy is associated with various forms of thrombotic microangiopathy,
including hemolytic uremic syndrome. A previous small French study suggested that …