Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
Atypical hemolytic–uremic syndrome
The hemolytic–uremic syndrome, which is characterized by nonimmune hemolytic anemia,
thrombocytopenia, and renal impairment, occurs most frequently in young children. Most …
thrombocytopenia, and renal impairment, occurs most frequently in young children. Most …
[HTML][HTML] Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a “Kidney Disease: Improving Global Outcomes”(KDIGO) Controversies …
THJ Goodship, HT Cook, F Fakhouri, FC Fervenza… - Kidney international, 2017 - Elsevier
In both atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G)
complement plays a primary role in disease pathogenesis. Herein we report the outcome of …
complement plays a primary role in disease pathogenesis. Herein we report the outcome of …
Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype
M Noris, J Caprioli, E Bresin, C Mossali… - Clinical Journal of the …, 2010 - journals.lww.com
Background and objectives: Hemolytic uremic syndrome (HUS) is characterized by
microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment. Most …
microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment. Most …
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration
GS Hageman, DH Anderson… - Proceedings of the …, 2005 - National Acad Sciences
Age-related macular degeneration (AMD) is the most frequent cause of irreversible
blindness in the elderly in developed countries. Our previous studies implicated activation of …
blindness in the elderly in developed countries. Our previous studies implicated activation of …
The Factor H protein family: The switchers of the complement alternative pathway
L Lucientes‐Continente… - Immunological …, 2023 - Wiley Online Library
The factor H (FH) protein family is emerging as a complex network of proteins controlling the
fate of the complement alternative pathway (AP) and dictating susceptibility to a wide range …
fate of the complement alternative pathway (AP) and dictating susceptibility to a wide range …
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 …
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 …
thrombocytopenia, and acute renal failure. The atypical form of HUS is a disease …
Age‐related macular degeneration—emerging pathogenetic and therapeutic concepts
KM Gehrs, DH Anderson, LV Johnson… - Annals of …, 2006 - Taylor & Francis
Today, the average life expectancy in developed nations is over 80 years and climbing. And
yet, the quality of life during those additional years is often significantly diminished by the …
yet, the quality of life during those additional years is often significantly diminished by the …
[HTML][HTML] An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus document
JM Campistol, M Arias, G Ariceta, M Blasco… - Nefrología (English …, 2015 - Elsevier
Haemolytic uraemic syndrome (HUS) is a clinical entity defined as the triad of nonimmune
haemolytic anaemia, thrombocytopenia, and acute renal failure, in which the underlying …
haemolytic anaemia, thrombocytopenia, and acute renal failure, in which the underlying …