Gain-of-function genetic screening identifies the antiviral function of TMEM120A via STING activationGENETIC testingZIKA virus infectionsZIKA virusINFECTIONMEDICAL screeningTYPE I interferonsZika virus (ZIKV) infection can be associated with neurological pathologies, such as microcephaly in newborns and ...
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
Related to gain-of-function mutation:back mutation,genetic mutation,gene mutation,conditional mutant mu·ta·tion (myo͞o-tā′shən) n. 1.The act or process of being altered or changed. 2.An alteration or change, as in nature, form, or quality. ...
A gain-of-function mutation replaces a guanidine base with a thymine base, resulting in a valine-to-phenylalanine alteration, [2] and consequently constitutive tyrosine kinase activity along with enhanced proliferation of myeloid cells. Screening for calreticulin mutations in a cohort of patients suspe...
Here we perform a genome-wide gain-of-function screen using a weakly permissive NTCP-overexpressing Huh7-derived cell line termed Huh-106 cells5 and a genome-scale lentiviral open reading frame (ORF) library18, aiming to uncover HBV-related host-dependency fac- tors. We expect that the ...
26 These syndromes suggest that additional genetic predispositions to MDS exist. 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 ...
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...
In addition to mutations in ITG2B or ITGB3 genes that cause defective αβexpression and/or function in Glanzmann's thrombasthenia patients, platelet dysfunction can be a result of genetic variability in proteins that mediate inside-out ... ML Lozano,A Cook,JM Bastida,... - 《Blood》 被引...
SDHA gain-of-function led to an accumulation of fumarate in PPBL B cells, which engaged the KEAP1–Nrf2 system to drive the transcription of genes encoding inflammatory cytokines. In a single patient trial, blocking the activity of the cytokine interleukin-6 in vivo prevented systemic ...
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...