Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We report here a FANCL founder variant, anticipated to be synonymous, c.1092G>A;p.K364=, but demonstrated to induce aberrant splicing, c.1021_1092del;p.W341_K364del, that accounts for the onset of FA in 13 cases from South Asia, 12 from India and one from Pakistan.
|
31513304 |
2020 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
The FA core complex comprises two central dimers of the FANCB and FA-associated protein of 100 kDa (FAAP100) subunits, flanked by two copies of the RING finger subunit, FANCL.
|
31666700 |
2019 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Small-Molecule Inhibition of UBE2T/FANCL-Mediated Ubiquitylation in the Fanconi Anemia Pathway.
|
31525021 |
2019 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
To address this question, we generated cellular knock-out models of FA core complex components and FANCD2 and found that FANCD2-null mutants display higher levels of spontaneous chromosomal damage and hypersensitivity to replication-blocking lesions than Fanconi anemia complementation group L (FANCL)-null mutants, suggesting that FANCD2 provides a basal level of DNA protection countering endogenous lesions in the absence of monoubiquitination.
|
29021208 |
2017 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
Fanconi anemia (FA) is a congenital disorder manifested with elevated sensitivity toward DNA interstrand cross-linking agents, and monoubiquitination of FANCD2 by FANCL is a crucial step in FA-mediated DNA repair.
|
28535027 |
2017 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here we describe a Chinese girl with FA-L caused by a novel homozygous mutation c.822_823insCTTTCAGG (p.Asp275LeufsX13) in the FANCL gene.
|
28419882 |
2017 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In the current cohort, the increased mutation load of FANCD2, FANCE, and FANCL variants among younger patients with HNSCC indicates the importance of the FA pathway in HNSCC.Cancer 2017;123:3943-54.© 2017 American Cancer Society.
|
28678401 |
2017 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
The "FA core complex" contains the RING-E3 ligase FANCL and seven other essential proteins that are mutated in various FA subtypes.
|
27986371 |
2017 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
|
27153395 |
2016 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
We found that acquired cisplatin-resistant NSCLC-derived A549/DR cells exhibited markedly enhanced FA and HR repair pathway capacities compared to its parental A549 cells and another independent NSCLC-derived cell line, Calu-1, which possesses a moderate innate resistance to cisplatin. siRNA-mediated silencing of the FA-associated genes FANCL and RAD18 and the HR-associated genes BRCA1 and BRCA2 significantly potentiated the sensitivity of A549/DR cells to cisplatin compared to A549 and Calu-1 cells, suggesting that the acquired cisplatin resistance in A549/DR cells may be attributed to enhanced FA and HR pathway capacities responsible for ICL repair.
|
27473273 |
2016 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We used ectopic expression of wild-type FANCL to functionally correct the cellular FA phenotype for both mutations.
|
25754594 |
2015 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We used ectopic expression of wild-type FANCL to functionally correct the cellular FA phenotype for both mutations.
|
25754594 |
2015 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Structure of the human FANCL RING-Ube2T complex reveals determinants of cognate E3-E2 selection.
|
24389026 |
2014 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.
|
23613520 |
2013 |
Fanconi Anemia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Indeed, a higher level of FAVL expression can promote the growth of bladder cancer cells in vitro and in vivo, which, at least partly, results from FAVL perturbation of FANCL expression, an essential factor for the activation of the FA pathway.
|
22828653 |
2012 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
BEFREE |
However, there are macromolecular differences between the FANCL proteins that may account for the apparent distinctions in core complex requirements between the vertebrate and invertebrate FA pathways.
|
21775430 |
2011 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Eight FA proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL and FANCM) and three non-FA proteins (FAAP100, FAAP24 and HES1) form an FA nuclear core complex, which is required for monoubiquitination of the FANCD2-FANCI dimer upon DNA damage.
|
19405097 |
2009 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
CTD_human |
Eight FA proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL and FANCM) and three non-FA proteins (FAAP100, FAAP24 and HES1) form an FA nuclear core complex, which is required for monoubiquitination of the FANCD2-FANCI dimer upon DNA damage.
|
19405097 |
2009 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group.
|
19405097 |
2009 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
How the fanconi anemia pathway guards the genome.
|
19686080 |
2009 |
Fanconi Anemia
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Eight FA proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL and FANCM) and three non-FA proteins (FAAP100, FAAP24 and HES1) form an FA nuclear core complex, which is required for monoubiquitination of the FANCD2-FANCI dimer upon DNA damage.
|
19405097 |
2009 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI.
|
19111657 |
2008 |
Fanconi Anemia
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
UBE2T, the Fanconi anemia core complex, and FANCD2 are recruited independently to chromatin: a basis for the regulation of FANCD2 monoubiquitination.
|
17938197 |
2007 |
Fanconi Anemia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Collectively, the abnormal FANCL expression is the cause leading to a defective FA-BRCA pathway, which confers the sensitivity of Calu-6 cells to MMC.
|
17106252 |
2006 |