Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia.
|
24602044 |
2014 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Here, we demonstrate that FANCM, a component in the Fanconi Anemia pathway, is a novel target of miR146a. miR146a suppressed FANCM expression by directly binding to the 3' untranslated region of the gene. miR146a-induced downregulation of FANCM was associated with inhibition of FANCD2 monoubiquitination, reduced DNA homologous recombination repair and checkpoint response, failed recovery from replication stress, and increased cellular sensitivity to cisplatin.
|
27351285 |
2016 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Moreover, a common phenotype of BS and FA cells-an elevated frequency of sister chromatid exchanges-was due to a loss of interaction of the two complexes through FANCM.
|
20064461 |
2009 |
Fanconi Anemia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
FANCM-mediated attenuation of ALT requires its inherent DNA translocase activity and interaction with the BTR complex, but does not require the FA core complex, indicative of FANCM functioning to restrain excessive ALT activity by ameliorating replication stress at telomeres.
|
31138797 |
2019 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
The RMI/FANCM interface is shown to be critical for interaction between the components of the dissolvasome and the FA core complex.
|
22392978 |
2012 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Overall, our data suggest that an ATR-FANCM feedback loop is present in the FA and replication stress response pathways and that it is required for both efficient ATR/CHK1 checkpoint activation and FANCM function.
|
23698467 |
2013 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Because current data exclude FANCM as an FA gene, 15 genes remain bona fide FA genes and three (FANCO, FANCR and FANCS) cause an FA like syndrome.
|
26254775 |
2015 |
Fanconi Anemia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
ATR kinase activity, an intact FA core complex and FANCM-FAAP24 were crucial for this recruitment.
|
26430909 |
2015 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Patient-derived cells were genetically complemented upon wild-type FANCM complementary DNA expression.ConclusionLoss-of-function mutations in FANCM cause a cancer predisposition syndrome clinically distinct from bona fide FA.
|
28837157 |
2018 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our data suggest an evolutionary link between Fanconi anemia-associated proteins and DNA repair; FANCM may act as an engine that translocates the Fanconi anemia core complex along DNA.
|
16116422 |
2005 |
Fanconi Anemia
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.
|
28837162 |
2018 |
Fanconi Anemia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Moreover, we find that the DNA translocase activity of FANCM, which is dispensable for FA pathway activation, is required for its role in ATR/Chk1 signaling.
|
18995830 |
2008 |
Fanconi Anemia
|
0.700 |
SusceptibilityMutation
|
disease |
CLINVAR |
Our data suggest an evolutionary link between Fanconi anemia-associated proteins and DNA repair; FANCM may act as an engine that translocates the Fanconi anemia core complex along DNA.
|
16116422 |
2005 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Because both mutants restored the formation of FANCD2 foci, we conclude that FANCM functions in an FA core complex-dependent and -independent manner.
|
19423727 |
2009 |
Fanconi Anemia
|
0.700 |
AlteredExpression
|
disease |
LHGDN |
Moreover, we find that the DNA translocase activity of FANCM, which is dispensable for FA pathway activation, is required for its role in ATR/Chk1 signaling.
|
18995830 |
2008 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
This fact and novel data sustaining greater functional relevance of the three genes within the FA pathway prompted us to scrutinize all coding sequences and splicing sites of FANCI, FANCL and FANCM in 95 BRCA1/2-negative index cases from Spanish high-risk breast cancer families.
|
19737859 |
2009 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
The Fanconi anemia ortholog FANCM ensures ordered homologous recombination in both somatic and meiotic cells in Arabidopsis.
|
22547783 |
2012 |
Fanconi Anemia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
However, genetic inactivation of FANCM in mouse and DT40 cells causes only a partial defect in the FA pathway activation, suggesting the existence of redundant DNA damage sensors.
|
21975120 |
2011 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Human FANCM has been linked to Fanconi anemia, a syndrome characterized by cancer predisposition, developmental disorder, and bone marrow failure.
|
26341555 |
2015 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
However, one histone-fold complex, MHF, associates with Fanconi anemia (FA) protein FANCM to form a branched DNA remodeling complex that senses and repairs stalled replication forks and activates FA DNA damage response network.
|
24699063 |
2014 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
In this review, we discuss the recent progress in the study of the FA pathway, such as the identification of new FANCM-binding partners and the identification of RAD51C and FAN1 (Fanconi-associated nuclease 1) as new FA pathway-related proteins.
|
20713514 |
2010 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Phenotype severity might correlate with mutation position in the gene.ConclusionOur data indicate that biallelic FANCM mutations do not cause classical FA, providing proof that FANCM is not a canonical FA gene.
|
28837162 |
2018 |
Fanconi Anemia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Finally, we demonstrate that the molecular mechanism by which the FA pathway limits R-loop accumulation requires FANCM translocase activity.
|
26593718 |
2015 |
Fanconi Anemia
|
0.700 |
SusceptibilityMutation
|
disease |
CLINVAR |
Distribution and medical impact of loss-of-function variants in the Finnish founder population.
|
25078778 |
2014 |