Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE Here, we show that the FA core complex is required for efficient spontaneous and UVC-induced point mutagenesis, independently of FANCD2 and FANCI. 18448394 2008
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE TMZ and BCNU treatment of FA-proficient cell lines led to a dose- and time-dependent increase in FANCD2 mono-ubiquitination and FANCD2 nuclear foci formation, both hallmarks of FA pathway activation. 17221219 2007
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE Fancg(-/-) lymphocytes had a defect in the FA pathway, based on their failure to activate the monoubiquitination of the downstream Fancd2 protein in response to IR. 11719385 2001
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE Here, we review the recent studies describing the regulated monoubiquitination of the FANCD2 protein and discuss the interaction of the FA pathway with other DNA damage response pathways. 12507559 2003
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE In contrast to BRCA1, BRCA2 is not needed for normal ubiquitination of FANCD2 after DNA damage, a requirement for the FA pathway to function. 12967657 2003
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE Mutations in BRCA genes cannot account for all cases of HBOC, indicating that the remaining cases can be attributed to the involvement of constitutive epimutations or other cancer susceptibility genes, which include Fanconi anemia (FA) cluster (FANCD2, FANCA and FANCC), mismatch repair (MMR) cluster (MLH1, MSH2, PMS1, PMS2 and MSH6), DNA repair cluster (ATM, ATR and CHK1/2), and tumor suppressor cluster (TP53, SKT11 and PTEN). 23779253 2013
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 Eight FA proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL and FANCM) and three non-FA proteins (FAAP100, FAAP24 and HES1) form an FA nuclear core complex, which is required for monoubiquitination of the FANCD2-FANCI dimer upon DNA damage. 19405097 2009
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE Analyses of ATM serine 1981 and Chk1 serine 345 phosphorylation, and FANCD2 monoubiquitination revealed that ATM and ATR kinase activation and FA pathway signaling are intact in the lung cancer cell lines examined. 26438152 2015
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE Eight FA proteins form a nuclear complex harboring E3 ubiquitin ligase activity (the FA core complex) that, in response to DNA damage, mediates the monoubiquitylation of the FA protein FANCD2. 18047734 2007
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
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 Biomarker disease BEFREE We propose that USP1 deubiquitinates FANCD2 when cells exit S phase or recommence cycling after a DNA damage insult and may play a critical role in the FA pathway by recycling FANCD2. 15694335 2005
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE We showed that BRCA1 mediates the recruitment of FANCD2 by gammaH2AX to damaged chromatin and cells deficient or depleted of H2AX exhibit an FA-like phenotype, including an excess of chromatid-type chromosomal aberrations and hypersensitivity to MMC. 17471025 2007
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE In addition, using patient-derived FA cell lines and siRNA targeting FANCD2, we demonstrate a functional requirement for the FA pathway in response to low doses of APH: a replicative stress treatment known to result in chromosome breakage at common fragile sites. 15661754 2005
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE Collectively, our results enlighten the importance of DNA binding and NLS residues in FANCD2 to activate an efficient FA pathway. 28666371 2017
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE A novel role for Fanconi anemia (FA) pathway effector protein FANCD2 in cell cycle progression of untransformed primary human cells. 20519958 2010
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE Indeed, Runx1;Runx3 DKO cells showed mitomycin C hypersensitivity, due to impairment of monoubiquitinated-FANCD2 recruitment to DNA damage foci, although FANCD2 monoubiquitination in the FA pathway was unaffected. 25066130 2014
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE In vertebrates, FANCM-MHF associates with the Fanconi anemia (FA) core complex, promotes FANCD2 monoubiquitination in response to DNA damage, and suppresses sister-chromatid exchanges. 20347428 2010
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 GeneticVariation disease BEFREE Monoubiquitinated Fanconi anemia D2 (FANCD2-Ub) is required for BCR-ABL1 kinase-induced leukemogenesis. 21519342 2011
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE We found that FANCC- and FANCD2-mutant cells were unexpectedly more sensitive to platinum drugs than FANCA-mutant cells, and mono-ubiquitination of FANCD2, which is mediated by the FANCA and FANCC containing FA core complex was not required for platinum resistance. 20034732 2010
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 Also our studies on FA group D2 protein (FANCD2) have, among the first, documented the crosstalks between the FA and Rad6/Rad18 (HHR6) pathways upon DNA damage. 24025411 2013
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE Our studies show that HPV activates the FA pathway, leading to the accumulation of a key regulatory protein, FANCD2, in large nuclear foci. 28196964 2017
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.100 Biomarker disease BEFREE Chromosome breakage, G2 arrest and biochemical analyses indicated a FA pathway defect downstream of FancD2 associated with reduced levels of BRCA2. 23435420 2013