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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
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
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
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
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 
TranscriptomicsOxymetholone therapy of Fanconi anemia suppresses osteopontin transcription and induces hematopoietic stem cell cycling
We used Fancd2-/- mice to understand its mechanism of action. Transcriptome analysis of cKit+ Sca1+ Lin- (KSL) cells discovered that only four genes changed their expression levels significantly after chronic OXM administration in both Fancd2−/− and wild-type mice: mKi67 and Cenpf were up-regualted ...
ORGANISM(S): Mus musculus 
2015-01-06 | E-GEOD-58724 | biostudies-arrayexpress
GenomicsMolecular basis for autosomal-dominant renal Fanconi syndrome caused by HNF4A
Molecular basis for autosomal-dominant renal Fanconi syndrome caused by HNF4A
PRJNA586857 | ENA
TranscriptomicsExpression profiling in Williams-Beuren Syndrome patient fibroblast cell lines
Williams-Beuren Syndrome (WBS) is a neurodevelopmental disorder caused by aa 1.5 Mb microdeletion on human chromosome 7. Although the molecular cause of the disorder is well-established, little is known about the global impact of the deletion on gene expression. Here we profiled the transcriptomes o...
ORGANISM(S): Homo sapiens 
2011-01-31 | E-GEOD-16715 | biostudies-arrayexpress
TranscriptomicsWilliams-Beuren syndrome: typical deletions versus atypical deletions of the 7q11.23 region
We have performed comparative transcriptome profile from lymphoblastoid cell lines from four Williams-Beuren syndrome patients and two patients with partial deletions of the region. The goal was to find deregulated genes specifically in WBS versus atypical deletions, and to determine the biological ...
ORGANISM(S): Homo sapiens 
2010-09-09 | E-GEOD-18188 | biostudies-arrayexpress
Genomics1 Fanconi Anemia transformation to AML
Genomic libraries (500 bps) will be generated from total genomic DNA derived from 7 Fanconi anemia (FA) derived Acute myeloid leukemia samples and subjected to total of two lanes of 50 bp, paired end sequencing on the llumina HiSeq. Paired reads will be mapped to build 37 of the human reference geno...
EGAS00001000033 | EGA
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