Zika virus (ZIKV) infection can be associated with neurological pathologies, such as microcephaly in newborns and Guillain-Barre syndrome in adults. Effective therapeutics are currently not available. As such, a comprehensive understanding of virus-host
Biochemical assays showed that the mutation was associated with a gain of function. The results of in vitro differentiation assays showed that RAC2 is essential for the survival and differentiation of hematopoietic stem/progenitor cells. Therefore, screening for RAC2 gain-offunction mutations should be...
Assuming that this restriction is due to the lack of key host factor(s) for HBV infection, we pursued a functional genomics approach to screen for factors that increase the susceptibility of Huh-106 cells to HBV infection. To this end, we performed a gain-of-function screen for HBV ...
Here we report clinical, genetic, and functional investigations in 2 families with early-onset MDS −7/del(7q), identifying heterozygous germ line gain-of-function mutations in SAMD9L and a variable degree of hematological and neurological symptoms. We also uncovered carriers who displayed distinct...
Chronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17 deficiency of dia... Chronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17...
In conclusion, our data strongly suggest that 350dupA variant is an etiologic mutation in VWS patients and disrupts enhancer activity by a loss- and gain-of-function mechanism, and thus support the rationale for additional screening for regulatory mutations in patients with CLP....
The effects on depression and daily features tend to be immediate, that on persistent conditions is lagged, in addition to results on cognitive function and resting hours persist with time. We find that outlying widows are particularly susceptible to negative health outcomes because of their weaker ...
BACKGROUND: The effect of pre-transplant dialysis modality on early graft function is a matter of debate. Although some authors deny the existence of a sig... Y Caliskan,H Yazici,N Gorgulu,... - 《Perit Dial Int》 被引量: 67发表: 2009年 In Silico Screening to Identify Inhibitors of ...
Paolo Cavallerio 4, Valentina Simioni 5, Valeria Tugnoli 5, Francesca Salvatori 1,6* & Peggy Marconi 1,6* SCAs are autosomal dominant neurodegenerative disorders caused by a gain-of-function protein with toxic activities, containing an expanded polyQ tract in the coding...
Thus, a gain-of-function rare polymorphism in hGDH2 hastens the onset of PD in hemizygous subjects, probably by damaging nigral cells through enhanced glutamate oxidative dehydrogenation. The lack of effect in female heterozygous PD patients could be related to a modification of the overactive ...