Comparative Genomics RNAi Screen Identifies Eftud2 as a Novel Regulator of Innate Immunity [PDF]
Genetics, 2014 Abstract The extent of the innate immune response is regulated by many positively and negatively acting signaling proteins. This allows for proper activation of innate immunity to fight infection while ensuring that the response is limited to prevent unwanted complications.
Lesly, De Arras +6 more
openaire +2 more sources
Oncotarget, 2015 Host innate immunity is the first line of defense against invasion of pathogens and determines the outcome of the infection. The host cells recognize pathogens as nonself via pattern-recognition receptors including Toll-like receptors (TLRs) and the RIG-I like receptors (RLRs), follow to induce local antiviral defense by producing interferon and ...
Chuanlong, Zhu, Fei, Xiao, Wenyu, Lin
openaire +2 more sources
The Role of the U5 snRNP in Genetic Disorders and Cancer
Frontiers in Genetics, 2021 Pre-mRNA splicing is performed by the spliceosome, a dynamic macromolecular complex consisting of five small uridine-rich ribonucleoprotein complexes (the U1, U2, U4, U5, and U6 snRNPs) and numerous auxiliary splicing factors.
Katherine A. Wood +5 more
doaj +1 more source
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type [PDF]
Human Mutation, 2020 Pathogenic variants in the core spliceosome U5 small nuclear ribonucleoprotein gene EFTUD2/SNU114 cause the craniofacial disorder mandibulofacial dysostosis Guion-Almeida type (MFDGA). MFDGA-associated variants in EFTUD2 comprise large deletions encompassing EFTUD2, intragenic deletions and single nucleotide truncating or missense variants.
Huw B. Thomas +10 more
openaire +2 more sources
A Thermodynamic-Based Interpretation of Protein Expression Heterogeneity in Different Glioblastoma Multiforme Tumors Identifies Tumor-Specific Unbalanced Processes [PDF]
, 2016 We describe a thermodynamic-motivated, information theoretic analysis of proteomic data collected from a series of 8 glioblastoma multiforme (GBM) tumors. GBMs are considered here as prototypes of heterogeneous cancers.
Heath, James R. +4 more
core +3 more sources
Spliceosome protein Eftud2 promotes colitis-associated tumorigenesis by modulating inflammatory response of macrophage [PDF]
Mucosal Immunology, 2019 Alternative splicing (AS) of mRNA is known to be involved in regulation of immune cell differentiation and activation. Elongation factor Tu GTP binding domain containing 2 (Eftud2) is an AS factor to potentially modulate innate immune response in macrophages. In this study, we investigate its involvement in the pathogenesis of colitis-associated cancer
Zhonglin, Lv +15 more
openaire +2 more sources
Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors [PDF]
Nucleic Acids Research, 2016 Haploinsufficiency of EFTUD2 (Elongation Factor Tu GTP Binding Domain Containing 2) is linked to human mandibulofacial dysostosis, Guion-Almeida type (MFDGA), but the underlying cellular and molecular mechanisms remain to be addressed. We report here the isolation, cloning and functional analysis of the mutated eftud2 (snu114) in a novel neuronal ...
Lei, Lei +10 more
openaire +2 more sources
A proteomic study of TAR-RNA binding protein (TRBP)-associated factors [PDF]
, 2011 Background The human TAR RNA-binding protein, TRBP, was first identified and cloned based on its high affinity binding to the small hairpin trans-activation responsive (TAR) RNA of HIV-1.
Ya-Hui Chi +2 more
core +2 more sources
Blood Biomarkers Associated with Cognitive Decline in Early Stage and Drug-Naive Parkinson's Disease Patients. [PDF]
PLoS ONE, 2015 Early diagnosis of Parkinson's disease (PD) continues to be a major challenge in the field. The lack of a robust biomarker to detect early stage PD patients has considerably slowed the progress toward the development of potential therapeutic agents.
Jose A Santiago, Judith A Potashkin
doaj +1 more source
Identification of a de novo missense variant in the BRI3BP gene in a Holstein calf with congenital cardiac malformation and carpus valgus. [PDF]
Anim GenetAbstract Congenital malformations in cattle pose a diagnostic challenge with limited treatment options and are often associated with a guarded prognosis. The aim of this study was to characterize the clinicopathological phenotype of a viable calf with complex congenital heart defects and carpus valgus, and to identify a possible genetic cause using a ...
He C +6 more
europepmc +2 more sources