FANCC Antibody

1. mutation IVS4+4A>T is the most prevalent mutation in our group of patients. This analysis of Pakistani patients also suggests that there is no significant difference between IVS4+4A>T homozygotes and the rest of the patients with regard to severity of clinical phenotype. PMID: 28425259
2. The finding that FANCC overexpression reduced betacell apoptosis advances the potential for an alternative approach to the treatment of Diabetes mellitus caused by FANCC defects PMID: 29901137
3. Lung adenocarcinomas in both male and female patients were associated with (a) genotypic polymorphisms of FANCC and FANCD1. PMID: 26842001
4. Israeli ATM, BLM, and FANCC heterozygous mutation carriers are not at an increased risk for developing cancer. PMID: 26778106
5. FANCC interacts and co-localizes with STMN1 at centrosomes during mitosis. We also showed that FANCC is required for STMN1 phosphorylation. PMID: 26466335
6. FANCC interferes with UNC5A's functions in apoptosis and suggest that FANCC may participate in developmental processes through association with the dependence receptor UNC5A. PMID: 24676280
7. The successful in vitro repair of the mutated Fanconi anemia FANCC gene using the CRISPR/Cas9 system has been described. PMID: 25545896
8. deregulations of the FANCC-mediated DNA damage repair pathway and the PTCH1-associated sonic hedgehog pathway are associated with the development of early dysplastic head and neck lesions. PMID: 21861228
9. we identified faults in two genes, Fanconi C and Bloom helicase( FANCC and BLM), in six families. Faults in these genes appear to increase the risk of developing breast cancer PMID: 23028338
10. FANCC polymorphisms might be associated with the obstructive symptoms in allergic diseases. PMID: 21670957
11. FA DNA repair genes, FANCD2, FANCL, and FANCC, are transcriptionally upregulated differently in melanoma compared with non-melanoma skin cancer PMID: 21697891
12. genetic diversity in FANCA, FANCC and FANCL does not support an association of these genes with cervical cancer susceptibility in the Swedish population. PMID: 21543111
13. Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in Fanconi anemia patients and is enhanced by delivery of suppressor U1 snRNAs. PMID: 20869034
14. we identified a hepatocellular carcinoma cell line harboring an inactivating mutation of the FANCC gene, specifically causing proximal FA pathway inactivation and the classic cellular DNA interstrand-crosslinking agents-hypersensitivity phenotype PMID: 20509860
15. study found genetic interaction between Fanconi anemia(FA)gene FANCC and Ku70; results indicate FA pathway promotes homologous recombination repair of DNA double-strand breaks (DSBs) by counteracting Ku70; suggest this achieved by modification of DSBs PMID: 20538911
16. The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of this protein. PMID: 12239156
17. Hsp70 requires the cooperation of FANCC to suppress PKR activity and support survival of hematopoietic cells and FANCC does not require the multimeric Fanconi anemia complex to exert this function PMID: 12397061
18. Fancc-/- phenotypically defined cell populations enriched for hematopoietic stem and progenitor cells exhibit increased cycling PMID: 12763929
19. FANCC undergoes proteolytic modification by a caspase into a predominant 47-kDa ubiquitinated protein fragment. Lack of proteolytic modification at the putative cleavage site delays apoptosis. PMID: 14625294
20. Fanconi anemia C gene product regulates expression of genes involved in differentiation and inflammation. PMID: 15077170
21. Inappropriate activation of Protein kinase regulated by RNA may cause mutations in FANCC> PMID: 15299030
22. Data show that the Fanconi anemia protein FANCC cooperate with key mutagenesis and repair processes that enable replication of damaged DNA. PMID: 15327776
23. spontaneous SCE levels were elevated approximately 2-fold in cells deficient in Fanconi anemia gene FANCC PMID: 15616572
24. FANCC, FANCE, and FANCD2 form a ternary complex in the Fanconi anemia DNA damage response pathway PMID: 16127171
25. analysis of two new mutations that inactivate the function of the FANCC protein PMID: 16429406
26. nuclear accumulation of FANCE does not rely solely on its nuclear localization signal motifs, but also on FANCC PMID: 16513431
27. FANCC-deficient cells are hypersensitive to DNA cross-linking reagents. PMID: 17490643
28. We found six differentially expressed proteins; among them, the checkpoint mediator protein MDC1 whose expression was disrupted in FANCC-/- cells. PMID: 17977515
29. the first report to describe hypermethylation of FANCL in leukemia PMID: 18607065
30. Differential association of alterations in FANCC and PTCH1 with that of PHF2, XPA and two breast cancer susceptibility genes (BRCA1/BRCA2) in the two age groups suggests differences in their molecular pathogenesis. PMID: 18990233

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HGNC: 3584

OMIM: 227645

KEGG: hsa:2176

STRING: 9606.ENSP00000289081

UniGene: Hs.494529