|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
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, 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 |
Furthermore, the COUP-TFII/TR4-mediated ALT telomere pathway does not require the FA core complex or the monoubiquitylation of FANCD2, key steps in the canonical FA pathway.
|
31633027 |
2019 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
A central step in the activation of the FA pathway is the monoubiquitination of the FANCD2 and FANCI proteins, which occurs within chromatin.
|
31085681 |
2019 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Collectively, these results suggest that Fancd2 restricts mitochondrial activity through regulation of mitochondrial translation, and that augmented mitochondrial translation and mitochondrial respiration may contribute to HSC defect and bone marrow failure in FA.
|
31472450 |
2019 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Phosphorylation of FANCD2 Inhibits the FANCD2/FANCI Complex and Suppresses the Fanconi Anemia Pathway in the Absence of DNA Damage.
|
31167143 |
2019 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
FANCD2 protein play the central role in FA pathway.
|
31078270 |
2019 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
The primary function of the UBE2T ubiquitin conjugase is in the monoubiquitination of the FANCI-FANCD2 heterodimer, a central step in the Fanconi anemia (FA) pathway.
|
30715513 |
2019 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
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, 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 |
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 |
Biomarker
|
disease |
BEFREE |
Remarkably, ICL-independent functions of FANCD2 and other components of the FA pathway were recently reported.
|
29031493 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
We uncovered a novel function of Fanconi anemia (FA) protein FANCM in the protection of CFSs that is independent of the FA core complex and the FANCI-FANCD2 complex.
|
30022024 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
The stimulation is mediating by a retention of FANCD2 on chromatin, allowing for its monoubiquitination by the FA core complex.
|
30335751 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
The immuno-MRM assay provides a potential functional diagnostic for patients with Fanconi Anemia with defects in the upstream FA complex or FANCD2, and a potential test for predicting sensitivity to DNA cross-linking agents in human cancers.
|
29605812 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Eight missense variants and one indel variant were unable to restore FANCD2 mono-ubiquitination and mitomycin C resistance in a panel of FA indicator cell lines, indicating that these mutations are deleterious.
|
30031030 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
However, SAN1 deletion is not epistatic with FANCD2, a core FA pathway component.
|
29968717 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Bone Marrow Mesenchymal Stem Cells Carrying FANCD2 Mutation Differ from the Other Fanconi Anemia Complementation Groups in Terms of TGF-β1 Production.
|
29247345 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
FANCA is a component of the Fanconi anemia (FA) core complex that activates DNA interstrand crosslink repair by monoubiquitination of FANCD2.
|
30057198 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
FANCD2-FANCI-associated nuclease (FAN1) is a conserved structure-specific nuclease that unhooks DNA ICLs independently of the Fanconi anemia pathway.
|
29514982 |
2018 |
|
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 |
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 |
Our work reveals the mechanistic basis for temporal and spatial control of FANCD2:FANCI monoubiquitination that is critical for chemotherapy responses and prevention of Fanconi anemia.
|
27986371 |
2017 |