|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sanger's sequencing of the nine selected exons of FANCA gene in FA cases revealed 19 genetic alterations of which 15 were single nucleotide variants, three were insertions and one was microdeletion.
|
30809872 |
2020 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Glucose-dependent changes in the FANCA interaction network were observed, including increased association with other FA family proteins, suggesting an activation of the DNA damage response in response to elevated glucose levels.
|
31461451 |
2019 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FANCA account for more than 60% of FA cases worldwide<sup>3,4</sup>.
|
31501599 |
2019 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
The screening for FANCA pathogenic variants in such patients has the potential to identify undiagnosed FA before the appearance of other severe clinical manifestations of the disease.
|
29904161 |
2019 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rare missense variants were identified in FANCA (Fanconi anemia complementation group A): c.1772G > A (p.R591Q) and c.3887A > G (p.E1296G).
|
31535215 |
2019 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Up to know, different genes involved in the DNA repair pathway, mainly FANCA genes, have been identified to be affected in patients with FA.
|
31288759 |
2019 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the analysis of overlapping heterozygous novel submicroscopic deletions of FANCA gene in a FA patient, and discuss the mechanism of the deletions and the formation of FANCA-VPS9D1 fusion transcripts.
|
31239491 |
2019 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To date, 15 bona fide FA genes have been reported to be responsible for the known FA complementation groups and the FANCA gene accounts for almost 60%.
|
29702541 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
A cell-based DNA double-strand break (DSB) repair assay demonstrates that FANCA plays a direct role in the single-strand annealing sub-pathway (SSA) of DSB repair by catalyzing SA, and this role is independent of the canonical FA pathway and RAD52.
|
30057198 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
|
29098742 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here, we identify the deubiquitylating enzyme USP48 as synthetic viable for FA-gene deficiencies by performing genome-wide loss-of-function screens across a panel of human haploid isogenic FA-defective cells (FANCA, FANCC, FANCG, FANCI, FANCD2).
|
29891926 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Fanconi anaemia and cancer: an intricate relationship.
|
29376519 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.
|
29269525 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.
|
29269525 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
|
29098742 |
2018 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
In this study, we demonstrate that a validated short transduction protocol of G-CSF plus plerixafor-mobilized CD34<sup>+</sup> cells from FA-A patients with a therapeutic <i>FANCA-</i>lentiviral vector corrects the phenotype of in vitro cultured hematopoietic progenitor cells.
|
28801449 |
2017 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
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, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.
|
28717661 |
2017 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
In the absence of doxycycline (DOX) and FANCA expression, this line showed the cellular phenotypes of FA, suggesting it is an excellent tool for FA disease modeling and drug screening.
|
28395741 |
2017 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe a Turkish boy newly diagnosed with Fanconi anemia with mutation in the FANCA gene.
|
28060124 |
2017 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A germline FANCA alteration that is associated with increased sensitivity to DNA damaging agents.
|
28864460 |
2017 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Currently, FA gene therapy is in stage II where, based on an improved understanding of the cellular defects in FA HSCs, consequently adapted transduction protocols are being used in two phase I/II trials for in vitro genetic correction of FANCA-deficient hematopoietic stem cells.These results are eagerly awaited.
|
28067166 |
2017 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
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)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Fanconi Anemia (FA) is an autosomal recessive syndrome characterized by congenital abnormalities, progressive bone marrow failure and Fanconi anemia complementation group A (FANCA) is also a potential breast and ovarian cancer susceptibility gene.
|
28440412 |
2017 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
In our first experiments, we showed that zinc finger nuclease (ZFN)-mediated insertion of a non-therapeutic EGFP-reporter donor in the <i>AAVS1</i> "safe harbor" locus of FA-A lymphoblastic cell lines (LCLs), indicating that FANCA is not essential for the editing of human cells.
|
28899930 |
2017 |