|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
A critical step in the activation of FA pathway is the monoubiquitination of FANCD2 and its binding partner FANCI.
|
31219578 |
2019 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Activation of the Fanconi anemia (FA) DNA damage-response pathway results in the monoubiquitination of FANCD2, which is regulated by the nuclear FA core ubiquitin ligase complex.
|
17460694 |
2007 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Through a cell-based screening assay of over 16,000 chemicals, we identified 26 small molecules that inhibit ionizing radiation and cisplatin-induced FANCD2 foci formation, a marker of FA pathway activity, in multiple human cell lines.
|
22537224 |
2012 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Dysfunctional DNA repair pathway via defective FANCD2 gene engenders multifarious exomic and transcriptomic effects in Fanconi anemia.
|
30450770 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Gene variants in the DNA helicase RECQL4 (n = 2) and components of the Fanconi anemia complementation group (FANCD2, FANCF, FANCG) (n = 1) were identified in two alternative lenghtening of telomere-positive/ATRX-intact cases.
|
29973652 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Since cells from the FA-D1 and FA-J patient groups are both able to monoubiquitinate FANCD2, the "Rad51 foci phenotype" provides a convenient assay to distinguish between these two groups.
|
16154163 |
2006 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Importantly, FANCD2 foci in untreated and MMC-treated cells are largely R loop dependent, suggesting that the FA functions at R loop-containing sites.
|
26584049 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
FANCD2, a downstream component of the FA pathway, has recently been shown to be ubiquitinated in response to DNA damage and to translocate to nuclear foci containing BRCA1, a breast cancer susceptibility gene product, suggesting a role for this protein in DNA repair functions.
|
11530803 |
2001 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Here we report that BLM is involved in the early activation of FA group D2 protein (FANCD2).
|
27083049 |
2016 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
FANCD2 is required for the repair of DNA damage by the FA (Fanconi anemia) pathway, and, consequently, FANCD2-deficient cells are sensitive to compounds such as cisplatin and formaldehyde that induce DNA:DNA and DNA:protein crosslinks, respectively.
|
24626199 |
2014 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
FANCE is predominantly localized in the nucleus and acts as a molecular bridge between the FA core complex and FANCD2, through direct binding of both FANCC and FANCD2.
|
16513431 |
2006 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Eight of 17 known FA genes assemble the FA E3 ligase complex, which catalyzes monoubiquitination of FANCD2 and is essential for replicative DNA crosslink repair.
|
26085575 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
FANCD2, a central factor of the FA pathway, is essential for the repair of double strand breaks (DSBs) generated during fork collapse at ICLs.
|
26765540 |
2016 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
In FA-I cells FANCD2 was not mono-ubiquitinated, indicating a defect upstream in the FA pathway, whereas in FA-J cells FANCD2 was mono-ubiquitinated, indicating a downstream defect.
|
14630800 |
2004 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in ATM, NBS1, MRE11, BLM, WRN, and FANCD2 are responsible for ataxia telangiectasia (AT), Nijmegen breakage syndrome, AT-like disorder, Bloom and Werner syndrome, and Fanconi anemia group D2, respectively.
|
11733219 |
2001 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A candidate protein for those patients, FA nuclease 1 (FAN1), whose gene is located at chromosome 15q13.3, is recruited to stalled replication forks by binding to monoubiquitinated FANCD2 and is required for interstrand crosslink repair, suggesting that mutation of FAN1 may cause FA.
|
22611161 |
2012 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Human FA immortalized fibroblast cell lines FA-A:PD220 and FA-D2:PD20 were grown in minimum essential medium (MEM) supplemented with 15% fetal bovine serum (FBS) and antibiotics in 24-well tissue culture plates.
|
28098879 |
2017 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Similarly, FANCA protein, which is a component of the FA core complex monoubiquitinating FANCD2, was required for this event.
|
28174693 |
2017 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Surprisingly, depleting BRCA1 or FANCD2 (Fanconi anemia [FA] proteins) or BRG1, a mSWI/SNF subunit, caused HME cells to undergo spontaneous epithelial-to-mesenchymal transition (EMT) and aberrant differentiation.
|
27373334 |
2016 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although FANCD2-associated nuclease 1 (FAN1) contributes to ICL repair, FAN1 mutations predispose to karyomegalic interstitial nephritis (KIN) and cancer rather than to FA.
|
29051491 |
2017 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Lnk/Sh2b3 deficiency restores hematopoietic stem cell function and genome integrity in Fancd2 deficient Fanconi anemia.
|
30254368 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Thus, these results provide further insights into the regulation of FANCD2 monoubiquitination as well as indicate a common link between the FA-BRCA and HHR6 pathways in the maintenance of genome integrity.
|
18277096 |
2008 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
A panel of GI cancer cell lines was screened for FA pathway inactivation applying FANCD2 monoubiquitination and FANCD2/RAD51 nuclear focus formation and a newly identified FA pathway-deficient cell line was functionally characterized.
|
20509860 |
2010 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Unlike the lymphoblasts, this myeloid leukemia cell line (UoC-M1) was hypersensitive to mitomycin-C (MMC) and diepoxybutane (DEB) and exhibited a marked decrease in nuclear FANCA, FANCG, and FANCD2-L. Retroviral transduction of FANCA significantly reduced MMC sensitivity but FANCF, FANCG, and FANCC did not.
|
12637330 |
2003 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
We found that silencing of FANCF inactivated the FA/BRCA pathway by decreasing the monoubiquitination and focus formation of FANCD2 and reduced the function of the FA/BRCA pathway, resulting in the inhibition of cell proliferation, increased cell apoptosis and DNA damage in OVCAR3 cells.
|
23440494 |
2013 |