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 |
This review details our current understanding of FANCM as a facilitator of the cellular functions of caretaker proteins, including FA, Bloom syndrome, and Ataxia telangiectasia and RAD3-related proteins, which collectively ensure the maintenance of chromosome stability during DNA replication.
|
30714416 |
2019 |
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 |
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 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
GENOMICS_ENGLAND |
The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.
|
28376765 |
2017 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
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 |
Proper execution of the FA pathway requires interaction between the FA complementation group M protein (FANCM) and the RecQ-mediated genome instability protein (RMI) complex, and mutations that disrupt FANCM/RMI interactions sensitize cells to DNA crosslinking agents.
|
26962873 |
2016 |
Fanconi Anemia
|
0.700 |
SusceptibilityMutation
|
disease |
CLINVAR |
FANCM c.5101C>T mutation associates with breast cancer survival and treatment outcome.
|
27542569 |
2016 |
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 |
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 |
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 |
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.
|
26740942 |
2015 |
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 |
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 |
SusceptibilityMutation
|
disease |
CLINVAR |
Distribution and medical impact of loss-of-function variants in the Finnish founder population.
|
25078778 |
2014 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Distribution and medical impact of loss-of-function variants in the Finnish founder population.
|
25078778 |
2014 |
Fanconi Anemia
|
0.700 |
SusceptibilityMutation
|
disease |
CLINVAR |
Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer.
|
25288723 |
2014 |
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 |
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 |
The Fanconi anemia ortholog FANCM ensures ordered homologous recombination in both somatic and meiotic cells in Arabidopsis.
|
22547783 |
2012 |