PUF60 Antibody

1. Anti-PUF60 antibodies were nonspecific for myositis, since they could be detected in other rheumatic diseases. PMID: 29541951
2. Authors report the identification of 25 DNVs out of which five were classified as pathogenic or likely pathogenic. A two base pair deletion was identified in the PUF60 gene. Result adds to the growing evidence that PUF60 is responsible for the majority of the symptoms reported for carriers of a microdeletion across this region. PMID: 28990276
3. The present report describes a de novo missense mutation in PUF60, detected in a boy with multiple congenital anomalies. PMID: 28471317
4. PUF60 auto-antibodies are detected in the sera of early-stage colon cancer patients and level decreases after surgery. PMID: 27756887
5. These results confirm that PUF60 is a major driver for the developmental, craniofacial, skeletal and cardiac phenotypes associated with the 8q24.3 microdeletion PMID: 27804958
6. Heterozygote loss-of-function variants in PUF60 cause a phenotype comprising growth/developmental delay and craniofacial, cardiac, renal, ocular and spinal anomalies. PMID: 28327570
7. Mutations in PUF60 gene is associated with idiopathic hypereosinophilic syndrome. PMID: 26497854
8. Concomitant over expression of far upstream element (FUSE) binding protein (FBP) interacting repressor (FIR) and its splice variants induce migration and invasion of non-small cell lung cancer cells. PMID: 26177862
9. Overexpression of far upstream element (FUSE) binding protein (FBP)-interacting repressor (FIR) supports growth of hepatocellular carcinoma. PMID: 24824848
10. High FBP-interacting repressor expression is associated with hepatocellular carcinoma. PMID: 24811221
11. The interaction between SAP155 and FIR/FIRDeltaexon2 not only integrates cell-cycle progression and c-Myc transcription by modifying P27 and P89 expression. PMID: 23594796
12. Haploinsufficiency of each of SCRIB or PUF60 contribute uniquely to specific endophenotypes (e.g., coloboma, heart defects), and binary interaction potentially exacerbates other aspects of the clinical pathology of individuals with 8q24.3 deletion. PMID: 24140112
13. Circulating FIR variant mRNA in the peripheral blood of cancer patients were significantly overexpressed compared to that in healthy volunteers. PMID: 23113893
14. Data indicate that altered FIR and c-myc pre-mRNA splicing, in addition to c-Myc expression by augmented FIR/FIRDeltaexon2-SAP155 complex, potentially contribute to colorectal cancer development. PMID: 22496461
15. FIR is monomeric in solution but dimerizes upon DNA binding; DNA-induced dimerization is mediated by FIR's RNA recognition motif. PMID: 20420426
16. study identified PUF60 as a factor that promotes splicing of an intron with a weak 3' splice-site; demonstrated that PUF60 can functionally substitute for U2AF(65)in vitro, but splicing is strongly stimulated by the presence of both proteins PMID: 17579712
17. Results describe the roles of the FarUpStream Element (FUSE), FUSE Binding Protein (FBP), FBP Interacting Repressor (FIR), and TFIIH in the regulation of c-myc expression. PMID: 16628215

Show More

Hide All

HGNC: 17042

OMIM: 604819

KEGG: hsa:22827

STRING: 9606.ENSP00000434359

UniGene: Hs.521924