FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
1.000 |
Biomarker
|
disease |
BEFREE |
We further demonstrate that highly purified human FANCI-FANCD2 (ID2) complex binds synthetic single-stranded RNA (ssRNA) and R-loop substrates with high affinity, preferring guanine-rich sequences.
|
30650351 |
2019 |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
1.000 |
Biomarker
|
disease |
BEFREE |
In response to DNA cross-linking damage, the Fanconi anemia (FA) core complex activates the FA pathway by monoubiquitinating Fanconi anemia complementation group D2 (FANCD2) for the initiation of the nucleolytic processing of the DNA cross-links and stabilization of stalled replication forks.
|
29021208 |
2017 |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
1.000 |
Biomarker
|
disease |
BEFREE |
Fanconi anemia complementation group D2 (FANCD2) foci was evaluated in tissue specimens as a biomarker of response.
|
27998970 |
2017 |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
1.000 |
Biomarker
|
disease |
BEFREE |
The FANCI-FANCD2 (I-D) complex is considered to work with RAD51 to protect the damaged DNA in the stalled replication fork.
|
27694619 |
2016 |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
1.000 |
Biomarker
|
disease |
BEFREE |
The genomic instability induced by Rev3 depletion seems to be related to replication stress, as it is further enhanced on aphidicolin treatment and results in increased metaphase-specific Fanconi anemia complementation group D type 2 (FANCD2) foci formation, as well as FANCD2-positive anaphase bridges.
|
23303771 |
2013 |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Absence of this complex leads to increased cellular levels of ubiquitinated FANCD2 (FANCD2-Ub) and ubiquitinated PCNA (PCNA-Ub).
|
24001775 |
2013 |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
1.000 |
PosttranslationalModification
|
disease |
BEFREE |
At the heart of this pathway is the monoubiquitination of the FANCI-FANCD2 (ID) complex by the multiprotein "core complex" containing the E3 ubiquitin ligase FANCL.
|
21775430 |
2011 |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We focused on the Fanconi anemia, complementation group D2 (FANCD2) gene and evaluated FANCD2 mRNA expression in 133 CRC cases to determine the clinicopathological significance of FANCD2 expression.
|
20339950 |
2010 |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
1.000 |
Biomarker
|
disease |
BEFREE |
Using the DNA-stimulated monoubiquitylation of Xenopus FANCD2 (xFANCD2-L) as readout, a chemical library screen identified DDN (2,3-dichloro-5,8-dihydroxy-1,4-naphthoquinone) as a novel and potent FA pathway inhibitor.
|
19048618 |
2009 |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
How the fanconi anemia pathway guards the genome.
|
19686080 |
2009 |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
1.000 |
Biomarker
|
disease |
BEFREE |
Like FANCD2, FANCI is monoubiquitinated and unexpectedly, ubiquitination of each protein is important for the maintenance of ubiquitin on the other, indicating the existence of a dual ubiquitin-locking mechanism required for ID complex function.
|
17412408 |
2007 |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
1.000 |
Biomarker
|
disease |
BEFREE |
In response to DNA damaging agents, and during S-phase of the cell cycle, the FA pathway is activated via the mono-ubiquitination of FANCD2 (FANCD2-Ub), signaling its translocation to discrete nuclear foci, where it co-localizes with the central DNA repair proteins BRCA1 and RAD51.
|
15661754 |
2005 |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
1.000 |
Biomarker
|
disease |
MGD |
Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice.
|
12893777 |
2003 |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice.
|
12893777 |
2003 |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway.
|
11239454 |
2001 |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Positional cloning of a novel Fanconi anemia gene, FANCD2.
|
11239453 |
2001 |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Positional cloning of a novel Fanconi anemia gene, FANCD2.
|
11239453 |
2001 |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Positional cloning of a novel Fanconi anemia gene, FANCD2.
|
11239453 |
2001 |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In one patient, no pathogenic variant could be identified in any of the 22 known FA genes, and in seven patients, only one deleterious variant could be identified (three patients each with FANCA and FANCD2 and one patient with FANCE mutations) CONCLUSION: WES and proper bioinformatics analysis are sufficient to effectively characterise patients with FA regardless of the rarity of their complementation group, type of mutations, mosaic condition and DNA source.
|
31586946 |
2020 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
SMI#9 attenuated cisplatin-induced PCNA monoubiquitination (TLS marker), FANCD2 (Fanconi anemia (FA) activation marker), and TLS polymerase POL η. SMI#9-induced decreases in γH2AX levels were associated with concomitant inhibition of H2AX monoubiquitination, suggesting a key role for RAD6 in modulating cisplatin-induced γH2AX via H2AX monoubiquitination.
|
31639439 |
2020 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
FANCD2 monoubiquitination by the FA core complex is an essential gateway that connects upstream DNA damage signaling to enzymatic steps of repair.
|
30789902 |
2019 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
FANCD2 protein play the central role in FA pathway.
|
31078270 |
2019 |