FANCONI ANEMIA, COMPLEMENTATION GROUP I
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing.
|
22720145 |
2012 |
FANCONI ANEMIA, COMPLEMENTATION GROUP I
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Identification of the Fanconi anemia complementation group I gene, FANCI.
|
17452773 |
2007 |
FANCONI ANEMIA, COMPLEMENTATION GROUP I
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
First systematic experience of preimplantation genetic diagnosis for de-novo mutations.
|
21324748 |
2011 |
FANCONI ANEMIA, COMPLEMENTATION GROUP I
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP I
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Identification of the Fanconi anemia complementation group I gene, FANCI.
|
17452773 |
2007 |
FANCONI ANEMIA, COMPLEMENTATION GROUP I
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Positional cloning of a novel Fanconi anemia gene, FANCD2.
|
11239453 |
2001 |
FANCONI ANEMIA, COMPLEMENTATION GROUP I
|
0.710 |
Biomarker
|
disease |
BEFREE |
We identified two genes, the Bloom helicase (BLM) and Fanconi anemia complementation group I (FANCI), that have both increased DNA copy number and gene expression in the platinum-sensitive cases.
|
29452344 |
2018 |
FANCONI ANEMIA, COMPLEMENTATION GROUP I
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP I
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer.
|
24989076 |
2015 |
FANCONI ANEMIA, COMPLEMENTATION GROUP I
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP I
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair.
|
17412408 |
2007 |
FANCONI ANEMIA, COMPLEMENTATION GROUP I
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Genetic subtyping of Fanconi anemia by comprehensive mutation screening.
|
17924555 |
2008 |
FANCONI ANEMIA, COMPLEMENTATION GROUP I
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of the Fanconi anemia complementation group I gene, FANCI.
|
17452773 |
2007 |
FANCONI ANEMIA, COMPLEMENTATION GROUP I
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Novel FANCI mutations in Fanconi anemia with VACTERL association.
|
26590883 |
2016 |
FANCONI ANEMIA, COMPLEMENTATION GROUP I
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.
|
17460694 |
2007 |
FANCONI ANEMIA, COMPLEMENTATION GROUP I
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP I
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
How the fanconi anemia pathway guards the genome.
|
19686080 |
2009 |
FANCONI ANEMIA, COMPLEMENTATION GROUP I
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.
|
17460694 |
2007 |
Fanconi Anemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
A critical step in the activation of FA pathway is the monoubiquitination of FANCD2 and its binding partner FANCI.
|
31219578 |
2019 |
Fanconi Anemia
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.
|
26296701 |
2015 |
Fanconi Anemia
|
0.500 |
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
|
0.500 |
AlteredExpression
|
disease |
LHGDN |
We propose that the multiple phosphorylation of FANCI serves as a molecular switch in activation of the Fanconi anemia pathway.
|
18931676 |
2008 |
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Within this pathway the FA core complex operates as an ubiquitin ligase that activates the complex of FANCD2 and FANCI to coordinate DNA repair.
|
22036606 |
2011 |
Fanconi Anemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
We uncovered a novel function of Fanconi anemia (FA) protein FANCM in the protection of CFSs that is independent of the FA core complex and the FANCI-FANCD2 complex.
|
30022024 |
2018 |
Fanconi Anemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
MTDH, through its recently discovered role as an RNA binding protein, regulates expression of FANCD2 and FANCI, two components of the Fanconi anemia complementation group (FA) that play critical roles in interstrand crosslink damage induced by platinum compounds.
|
31477281 |
2019 |