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ProteomicsRBBP9 interactors in Fanconi Anaemia
The Fanconi Anaemia (FA) pathway resolves replication fork-stalling inter-strand crosslinks (ICLs) and is mutated in Fanconi anaemia. FA is a rare recessive chromosomal instability syndrome, resulting in hypersensitivity to DNA-crosslinkers, and particularly disadvantageous for stem cell growth and ...
ORGANISM(S): Homo sapiens (Human) 
2022-10-27 | PXD026545 | Pride
Fanconi anaemia Rbbp9 Sirna screen Ip-ms Hnscc Label-free Flag 
ProteomicsCrosslinking/mass spectrometry analysis of Fanconi anemia (FA) pathway FANCD2-FANCI complexes
DNA interstrand crosslinks (ICLs) are repaired by the Fanconi anemia (FA) pathway. The FA pathway is activated by phosphorylation of FANCI in FANCD2-FANCI complex. To investigate how phosphorylation regulates FA pathway activation and function, recombinant FANCD2-FANCI complexes prepared using eithe...
ORGANISM(S): Cellular Organisms 
2022-11-18 | PXD031632 | JPOST Repository
TranscriptomicsFanconi anemia proteins interact with CtBP1 and modulate the expression of the Wnt antagonist Dickkopf-1
Fanconi anemia (FA) is a genetic disorder characterized by congenital abnormalities, bone marrow failure and increased susceptibility to cancer. Of the fifteen FA proteins, Fanconi anemia group C (FANCC) is one of eight FA core complex components of the FA pathway. Unlike other FA core complex prote...
ORGANISM(S): Homo sapiens 
2013-04-05 | E-GEOD-43330 | biostudies-arrayexpress
GenomicsWhole-exome sequencing of Fanconi anemia
We performed whole-exome sequencing of two Fanconi anemia patients without mutation of known FA genes, and identified a novel FA gene FANCT.
EGAS00001001103 | EGA
TranscriptomicsBM clonal evolution in Fanconi anemia patients
Arrays-CGH and/or SNP-array data from n=57 Fanconi anemia BM and n=36 paired fibroblasts
ORGANISM(S): Homo sapiens 
2011-07-28 | E-MTAB-529 | biostudies-arrayexpress
ProteomicsStructure of the Fanconi anaemia monoubiquitin ligase complex
The Fanconi Anemia (FA) pathway repairs DNA damage caused by endogenous and chemotherapy-induced DNA crosslinks. Genetic inactivation of this pathway impairs development, prevents blood production and promotes cancer. The key molecular step in the FA pathway is the monoubiquitination of a heterodime...
ORGANISM(S): Gallus gallus (Chicken) 
2019-10-16 | PXD014282 | Pride
Fanconi anemia monoubiquitin ligase Human Crosslinking ms Em Electron microscopy Clms 
ModelsFanconi anemia and checkpoint recovery
The FA/BRCA pathway repairs DNA interstrand crosslinks. Mutations in this pathway cause Fanconi anemia (FA), a chromosome instability syndrome with bone marrow failure and cancer predisposition. Upon DNA damage, normal and FA cells inhibit the cell cycle progression, until the G2/M checkpoint is tur...
4790 | Cell Collective
TranscriptomicsBone marrow transcriptomal differences between wild type, Fancc-deficient, Fancg-deficient, and doubly deficient (Fancc/Fancg) mice.
Seeking to challenge the current dogma that the nuclear core-complex proteins function in an entirely epistatic manner, Dr. Clapp's group developed a new double-knockout mouse nullizygous for Fancc and Fancg. Because the hematopoietic phenotype was more severe than single knockout mice, we reasone...
ORGANISM(S): Mus musculus 
2010-07-30 | E-GEOD-22094 | biostudies-arrayexpress
Unknownp53 downregulates the Fanconi anaemia DNA repair pathway.
Not available
S-EPMC4821997 | biostudies-literature
UnknownPatterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management.
Not available
S-EPMC6061664 | biostudies-literature
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