|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
We conclude that the sequence variability is intrinsic to the FANCA gene and that the relative prevalence of the FA-A subtype is unusually high in Japanese FA patients.
|
10090479 |
1999 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To identify the cellular origin of the genotypic reversion, we examined each lymphohematopoietic and stromal cell lineage in an FA patient with a 2815-2816ins19 mutation in FANCA and known lymphocyte somatic mosaicism.
|
11226273 |
2001 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
In conclusion, our results identify FANCA as a novel client of Hsp90, suggesting that Hsp90 promotes activation of the FA pathway through regulation of intracellular turnover and trafficking of FANCA, which is critical for cellular tolerance against genotoxic stress.
|
17327415 |
2007 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Analyses of gene-edited FA-iPSCs confirmed the specific integration of FANCA in the AAVS1 locus in all tested clones.
|
24859981 |
2014 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Interestingly, the prevalence of ERCC4 mutation carriers (one in 288) is similar to that reported for FANCA, whereas there are approximately 100-fold more FA-A than FA-Q patients, indicating that most biallelic combinations of ERCC4 mutations are embryo lethal.
|
24027083 |
2013 |
|
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 |
Biomarker
|
disease |
BEFREE |
We studied the segregation of common FANCA SNPs in FA families to generate haplotypes.
|
15643609 |
2005 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The phenotypical heterogeneity is associated with genetic heterogeneity: at least 8 complementation groups (FA-A to FA-H) have been identified, each group presumably corresponding to a separate disease gene (FAA to FAH).
|
9676027 |
1998 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions.
|
9721219 |
1998 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
We report here that loss of FA pathway components FANCA and FANCD2 stimulates E7 protein accumulation in human keratinocytes and causes increased epithelial proliferation and basal cell layer expansion in the HPV-positive epidermis.
|
22623785 |
2012 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Chemosensitizing tumor cells by targeting the Fanconi anemia pathway with an adenovirus overexpressing dominant-negative FANCA.
|
15192709 |
2004 |
|
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 |
BEFREE |
To test directly the effect of this mutation on FANCA function, we used retroviral-mediated transduction to express either wild-type FANCA or FANCA(H1110P) protein in the FA-A fibroblast line, GM6914.
|
10210316 |
1999 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Defective respiration in FANCA mutants appear correlated with the FA pro-oxidative phenotype which is consistent with the altered morphology of FANCA mitochondria.
|
23791750 |
2013 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations.
|
12827451 |
2003 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
FANCA and FANCG are members of the FA core complex for which no other functions have been described than to participate in protein interactions.
|
22036606 |
2011 |
|
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 |
Array-CGH pinpoints 16q24.3 to be the region of interest on chromosome 16 which was further verified by FISH analysis where an increased copy number of FANCA, a member of the Fanconi anemia/breast cancer pathway, could be identified.
|
18810378 |
2008 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
To test the hypothesis that the FA network is conserved in vertebrate genomes, we cloned and sequenced zebrafish (Danio rerio) cDNAs and/or genomic BAC clones orthologous to all nine cloned FA genes (FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL), and identified orthologs in the genome database for the pufferfish Tetraodon nigroviridis.
|
16515849 |
2006 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Fifteen subtypes are currently recognised and deletions of the Fanconi anemia complementation group A (FANCA) gene account for more than 65% of FA cases.
|
23898106 |
2013 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To address this issue, we established induced pluripotent stem cells (iPSCs) from fibroblasts of six patients with FA and FANCA mutations.
|
25762002 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
In the present study, 21 patient-derived FANCA mutants with a missense or a small in-frame deletion were expressed in FANCA-deficient fibroblasts and examined for complementation of MMC sensitivity and for reconstitution of the FA pathway: FANCA phosphorylation, interaction with FANCC, FANCF and FANCG and nuclear localization and FANCD2 monoubiquitination.
|
12444097 |
2002 |