|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haplotypes for a FANCG variant.
|
25703136 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our results showed that patients, homozygous for the FANCG founder mutation, present with severe cytopenia but progress to bone marrow failure at similar ages to other individuals affected with FA of heterogeneous genotype.
|
25477267 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This study shows that mutations in FANCA and FANCG are common in Korean FA patients and the existence of four common founder mutations in an East Asian FA population.
|
23067021 |
2013 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
FANCG is one of Fanconi anemia susceptibility genes that participate in DSB repair pathway to prevent chromosomal aberrations.
|
21750350 |
2011 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
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)
|
0.100 |
Biomarker
|
disease |
BEFREE |
After successful mono-allelic deletion of all genes, the sequential homozygous deletion was achieved only for FANCC and FANCG, acting upstream, but not for BRCA2 or FANCD2, acting downstream in the FA pathway.
|
17387268 |
2007 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
We investigated a possible role for the Fanconi anemia (FA) pathway in particulate Cr(VI)-induced chromosomal damage by focusing on the Fancg gene, which plays an important role in cellular resistance to DNA interstrand crosslinks.
|
17097336 |
2007 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Given that FANCA, FANCC, and FANCG complementation groups account for more than 90% of all FA patients, these data provide evidence that IFN-gamma conditioning may be a useful nongenotoxic strategy for myelopreparation in FA patients.
|
16946306 |
2006 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These data indicate that the birth incidence of FA in this population is higher than 1 in 40 000, which is much higher than previously supposed, and suggest that the FANCG deletion is an ancient founder mutation in Bantu-speaking populations of sub-Saharan Africa.
|
15657175 |
2005 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two retrovirally complemented pancreatic cancer cell lines having defects in the Fanconi anemia pathway, PL11 (FANCC-mutated) and Hs766T (FANCG-mutated), as well as several parental pancreatic cancer cell lines with or without mutations in the Fanconi anemia/BRCA2 pathway, were assayed for in vitro and in vivo sensitivities to various chemotherapeutic agents.
|
16243825 |
2005 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
An adenoviral vector encoding a dominant-negative form of FANCA, FANCA600DN, was generated that interfered with endogenous FANCA-FANCG interaction resulting in the disruption of the FA pathway as illustrated by disturbed FANCD2 monoubiquitination.
|
15192709 |
2004 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our observations indicate that accelerated telomere shortening in patients with FA is not due to a role of FANCG at telomeres but instead may be secondary to the disease.
|
15319283 |
2004 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Since carriers of germline BRCA2 gene mutations have an increased risk of developing pancreatic cancer, the FA pathway has been investigated as a tumor suppressor pathway in pancreatic cancer.Recently van der Heijden et al. identified FANCC and FANCG gene mutations in patients with young-onset pancreatic cancer.
|
14726700 |
2004 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Direct sequencing of genomic DNA from seven FA-G probands with one mutant allele not detected in the SSCP study and three additional probands assigned to the FA-G complementation group by retroviral correction with FANCG resulted in the detection of nine additional pathogenic mutations and two common SNPs.
|
12552564 |
2003 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the present study, 45 unrelated FA families in Japan were screened for FA gene mutations and 10 families with biallelic pathogenic mutations of FANCG/XRCC9, the gene for FA-G, were identified.
|
12673805 |
2003 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
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 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We functionally analyzed FANCG mutant alleles by transducing the corresponding cDNAs into a known FA-G indicator cell line and scoring correction of MMC sensitivity.
|
11438206 |
2001 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
In conclusion, disruption of the Fancg gene confirms the role of Fancg in the FA pathway.
|
11719385 |
2001 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Fanconi anemia is a chromosomal breakage disorder with eight complementation groups (A-H), and three genes (FANCA, FANCC, and FANCG) have been identified.
|
10652215 |
2000 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Furthermore, we document the subcellular localization of FANCA and the FANCA/FANCG complex in all FA complementation groups.
|
11063725 |
2000 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
The FANCA and FANCG proteins deficient in FA groups A and G interact directly with each other.
|
10567393 |
1999 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Of the eight complementation groups (FA-A to FA-H) distinguished thus far by cell fusion studies, the genes for three-FANCA, FANCC, and FANCG-have been identified, and the FANCD gene has been localized to chromosome 3p22-26.
|
10205272 |
1999 |