|
Fanconi Anemia
|
0.500 |
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
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
MTDH, through its recently discovered role as an RNA binding protein, regulates expression of FANCD2 and FANCI, two components of the Fanconi anemia complementation group (FA) that play critical roles in interstrand crosslink damage induced by platinum compounds.
|
31477281 |
2019 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Moreover, rescue assays by utilizing different BRMS1 constructs suggested that BRMS1‑FANCI interaction is necessary for the regulatory role of BRMS1 in the FA pathway.
|
30365131 |
2019 |
|
Fanconi Anemia
|
0.500 |
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
|
0.500 |
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
|
0.500 |
Biomarker
|
disease |
BEFREE |
Carcinogenesis resulting from a dysregulated FA pathway is multifaceted, as FA proteins monitor multiple complementary genome-surveillance checkpoints throughout interphase, where monoubiquitylation of the FANCD2-FANCI heterodimer by the FA core complex promotes recruitment of DNA repair effectors to chromatin lesions to resolve DNA damage and mitosis.
|
29376519 |
2018 |
|
Fanconi Anemia
|
0.500 |
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
|
0.500 |
Biomarker
|
disease |
BEFREE |
Here we show that loss of the BLM helicase complex suppresses FANCC phenotypes and we confirm this interaction in cells deficient for FA complementation group I and D2 (FANCI and FANCD2) that function as part of the FA I-D2 complex, indicating that this interaction is not limited to the FA core complex, hence demonstrating that systematic genome-wide screening approaches can be used to reveal genetic viable interactions for DNA repair defects.
|
29089570 |
2017 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Repair of interstrand crosslinks by the Fanconi anemia (FA) pathway requires both monoubiquitination and de-ubiquitination of the FANCI/FANCD2 (FANCI/D2) complex.
|
28636932 |
2017 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
To repair these lesions, the FA proteins act in a linear hierarchy: following ICL detection on chromatin, the FA core complex monoubiquitinates and recruits the central FANCI and FANCD2 proteins that subsequently coordinate ICL removal and repair of the ensuing DNA double-stranded break by homology-dependent repair (HDR).
|
29059323 |
2017 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Central to the FA pathway is loss of monoubiquitinated forms of the Fanconi proteins FANCI and FANCD2, a process that is normally mediated by a "core complex" of seven other Fanconi proteins.
|
28315701 |
2017 |
|
Fanconi Anemia
|
0.500 |
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 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Taken together, our results uncover the mechanism of how the FANCD2-FANCI complex activates the FA pathway, and explains the underlying molecular defect in FA patients with mutations in the Tower domain.
|
27405460 |
2016 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This suggests that the VACTERL association in patients with FA may be seen in patients with FANCI mutations more often than previously recognized.
|
26590883 |
2016 |
|
Fanconi Anemia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.
|
26296701 |
2015 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Here, we report an unexpected involvement of human UBL5 in promoting the function of the Fanconi anemia (FA) pathway for repair of DNA interstrand crosslinks (ICLs), mediated by a specific interaction with the central FA pathway component FANCI.
|
25862789 |
2015 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
These findings indicate that FANCI functions upstream of FA core complex recruitment independently of FANCD2, and alter the current view of the FA-BRCA pathway.
|
26430909 |
2015 |
|
Fanconi Anemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
A pivotal step in the activation of the FA-BRCA pathway is the monoubiquitination of the FANCD2 and FANCI proteins.
|
25486561 |
2014 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
A key step in FA-BRCA pathway activation is the covalent attachment of monoubiquitin to FANCD2 and FANCI.
|
22855611 |
2012 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Recently, homologous recombination proteins have been shown to function in replication-coupled repair of ICLs in conjunction with the Fanconi anemia (FA) regulatory factors FANCD2-FANCI, and, conversely, the FA gene products have been shown to play roles in stalled replication fork rescue even in the absence of ICLs, suggesting a broader role for the FA network than previously appreciated.
|
22987153 |
2012 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Within this pathway the FA core complex operates as an ubiquitin ligase that activates the complex of FANCD2 and FANCI to coordinate DNA repair.
|
22036606 |
2011 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Early steps in DNA damage dependent activation of the pathway are governed by monoubiquitylation of FANCD2 and FANCI by the intrinsic FA E3 ubiquitin ligase, FANCL.
|
21605559 |
2011 |
|
Fanconi Anemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we focus on an FA-I patient-derived FANCI mutant protein, R1299X (deletion of 30 residues from its C-terminus), to characterize important structural region(s) in FANCI that is required to activate the FA pathway.
|
20971953 |
2011 |
|
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Recent studies suggest that the FA pathway may also play a role in mitosis, since FANCD2 and FANCI, the 2 key FA proteins, are localized to the extremities of ultrafine DNA bridges (UFBs), which link sister chromatids during cell division.
|
20921626 |
2010 |