Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In one patient, no pathogenic variant could be identified in any of the 22 known FA genes, and in seven patients, only one deleterious variant could be identified (three patients each with FANCA and FANCD2 and one patient with FANCE mutations) CONCLUSION: WES and proper bioinformatics analysis are sufficient to effectively characterise patients with FA regardless of the rarity of their complementation group, type of mutations, mosaic condition and DNA source.
|
31586946 |
2020 |
Fanconi Anemia
|
0.700 |
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
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FANCA account for more than 60% of FA cases worldwide<sup>3,4</sup>.
|
31501599 |
2019 |
Fanconi Anemia
|
0.700 |
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
|
0.700 |
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
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.
|
29269525 |
2018 |
Fanconi Anemia
|
0.700 |
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
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
|
29098742 |
2018 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
|
29098742 |
2018 |
Fanconi Anemia
|
0.700 |
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
|
0.700 |
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
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.
|
29269525 |
2018 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Examining the cancer predisposition syndrome Fanconi anemia in depth revealed that mutant FANCA proteins engaged predominantly by HSP70 had severely compromised function.
|
28215707 |
2017 |
Fanconi Anemia
|
0.700 |
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
|
0.700 |
Biomarker
|
disease |
BEFREE |
In-silico analysis showed that the predicted gene targets are ATRIP, ATR, WDR48, RAD51C and FANCA genes which are involved in the Fanconi Anemia/BRCA pathway.
|
28544907 |
2017 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.
|
28717661 |
2017 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
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
|
0.700 |
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
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.
|
28717661 |
2017 |
Fanconi Anemia
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.
|
28102861 |
2017 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.
|
28102861 |
2017 |
Fanconi Anemia
|
0.700 |
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 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We describe a Turkish boy newly diagnosed with Fanconi anemia with mutation in the FANCA gene.
|
28060124 |
2017 |