|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
FANCA is the most commonly mutated gene in FA and is essential for resolving DNA interstrand cross-links during replication.
|
26201965 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A newly developed TaqMan quantitative PCR-based gene dosage assay, combined with sequencing of exons and cDNA fragments, allowed for detection of 48 mutant alleles of FANCA in 27 (77%) of 35 unrelated Japanese FA families with no detectable mutations in FANCC or FANCG.
|
15523645 |
2004 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
By Western analysis, we also determined the expression of FAA and FAC, two FA disease gene products that together account for approximately 80% of FA.
|
10232749 |
1999 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Studies utilizing this assay demonstrated a decreased rate of ICL removal in cells belonging to the FA core-complex group (e.g. groups A and G) and FA-ID complex group (group D2), while ICL removal was restored to normal levels after these cells were complemented with wt-FANCA, wt-FANCG and wt-FANCD2.
|
18771529 |
2008 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in BRCA genes cannot account for all cases of HBOC, indicating that the remaining cases can be attributed to the involvement of constitutive epimutations or other cancer susceptibility genes, which include Fanconi anemia (FA) cluster (FANCD2, FANCA and FANCC), mismatch repair (MMR) cluster (MLH1, MSH2, PMS1, PMS2 and MSH6), DNA repair cluster (ATM, ATR and CHK1/2), and tumor suppressor cluster (TP53, SKT11 and PTEN).
|
23779253 |
2013 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
A total of seven known genes, including PRSM1, PISSLRE, and the recently cloned Fanconi anemia A (FAA) gene, and potential transcripts from exon-trapping experiments have been located to this contig.
|
9628816 |
1998 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These patients belonged to complementation groups FA-A (n = 3), FA-G (n = 1) and FA-I (n = 1).
|
24989076 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival.
|
25243787 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The combination of clinical features, FANCA pathogenic gene mutation genotype and the absence of FANCD2 protein ubiquitination are helpful in the accurate and timely diagnosis of Fanconi anemia in children.
|
24286411 |
2013 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To identify the gene underlying Fanconi anemia (FA) complementation group I we studied informative FA-I families by a genome-wide linkage analysis, which resulted in 4 candidate regions together encompassing 351 genes.
|
17452773 |
2007 |
|
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 |
BEFREE |
Sixteen patients were assigned to FA complementation group A, (FA-A), 12 to FA-C, and 5 to FA-G; 10 of the 12 participants in FA-C were homozygous for a mutation in the intron-4 donor splice site of the FANCC gene.
|
11335753 |
2001 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The rare hereditary disorder Fanconi anemia (FA) can be caused by mutations in components of the FA core complex (FancA/B/C/E/F/G/L/M), a key regulator FancD2, the breast cancer susceptibility protein BRCA2/FancD1, or the newly identified FancJ/BRIP1 helicase.
|
17352736 |
2007 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We also prove that long distance Alu-Alu recombination can cause Fanconi anemia by originating large interstitial deletions involving FANCA and 2 adjacent genes.
|
21273304 |
2011 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
On the basis of the efficacy and safety properties of PGK LVs, a PGK LV carrying FANCA and a mutant WPRE is proposed as an optimized vector for the gene therapy of patients with FA-A.
|
20001454 |
2010 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our data thus suggest that the high incidence of FA among Spanish Gypsies is due to an ancestral founder mutation in FANCA that originated in Spain less than 600 years ago.
|
15522956 |
2005 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
So far, 8 complementation groups have been identified, although mutations in FANCA account for the disease in the majority of FA patients.
|
12200363 |
2002 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition, a mutation (c.65G > A) in FANCA (FA-A is the most common complementation group in non-Jewish patients) and the mutation c.6174delT in FANCD1/BRCA2 are also unique to the Ashkenazi Jewish population.
|
15516848 |
2004 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Complementation groups in FA are likely to represent distinct disease genes, two of which (FAC and FAA) have been cloned.
|
9382107 |
1997 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
Biomarker
|
disease |
BEFREE |
We identified 69 proteins which have not previously been linked to the FA pathway as direct interactors of FANCA, FANCC, or FANCG.
|
14499622 |
2003 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Quantitative fluorescent PCR was used to screen archival DNA from sporadic AML cases for FANCA deletions, which account for 40% of FANCA mutations in FA homozygotes.
|
14749703 |
2004 |
|
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 |