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TranscriptomicsaCGH analyses of DSB-induced LOH in Blm-deficient mESCs
Genome modification in mouse embryonic stem cells (mESCs) has provided the versatile platform to analyzing gene functions in mammalian cells. Bloom helicase-deficient mESCs showed elevated rate of loss of heterozygosity (LOH) through mitotic recombination. By utilizing this characteristic of Blm de...
ORGANISM(S): Mus musculus 
2012-11-30 | E-MTAB-1116 | biostudies-arrayexpress
TranscriptomicsBloom syndrome protein modulates protein-coding gene and miRNA expression as a function of G4 DNA content
Bloom syndrome is a rare autosomal recessive genetic instability and cancer predisposition syndrome caused by loss of function mutations in the BLM RECQ helicase gene. To ask if some of the distinctive pathological features of Bloom syndrome might reflect altered gene expression, we analyzed global ...
ORGANISM(S): Homo sapiens 
2014-06-12 | E-GEOD-54502 | biostudies-arrayexpress
ProteomicsTFIP11 competes with the Bloom syndrome helicase for binding to stalled replication forks to preserve genome stability
Replication fork reversal is a key protective mechanism against replication stress in higher eukaryotic cells and occurs via a series of coordinated enzymatic reactions. The Bloom syndrome gene product, BLM, is a member of the highly conserved RecQ helicase family and has been implicated in this pro...
ORGANISM(S): Homo sapiens (Human) 
2024-05-24 | PXD042222 | Pride
Bloom syndrome helicase  replication stress  replication fork reversal  genome instability  tfip11 
ProteomicsThe Bloom Syndrome Complex Senses RPA-Coated Single-Stranded DNA to Restart Stalled Replication Forks
The Bloom syndrome helicase BLM interacts with topoisomerase IIIa (TOP3A), RMI1 and RMI2 to form the BTR complex, which dissolves double Holliday junctions to produce non-crossover products during homologous recombination (HR). BLM also promotes DNA-end resection and stalled replication fork restart...
ORGANISM(S): Homo sapiens (Human) 
2021-01-05 | PXD018322 | Pride
Bloom syndrome Dna damage response Blm Rpa Homologous recombination Replication stress 
TranscriptomicsAltered gene expression in Werner & Bloom syndromes is associated with sequences having G-quadruplex forming potential
The human Werner and Bloom syndromes (WS and BS) are caused by deficiencies in the WRN and BLM RecQ helicases, respectively. WRN, BLM and their S. cerevisiae homologue Sgs1, are particularly active in vitro in unwinding G-quadruplex DNA (G4-DNA), a family of non-canonical nucleic acid structures fo...
ORGANISM(S): Homo sapiens 
2009-12-09 | E-GEOD-19205 | biostudies-arrayexpress
UnknownFunctions of the Bloom syndrome helicase N-terminal intrinsically disordered region.
Not available
S-EPMC11912835 | biostudies-literature
UnknownCellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.
Not available
S-EPMC4707026 | biostudies-literature
TranscriptomicsBloom syndrome protein modulates protein-coding gene and miRNA expression as a function of G4 DNA content
Bloom syndrome is a rare autosomal recessive genetic instability and cancer predisposition syndrome caused by loss of function mutations in the BLM RECQ helicase gene. To ask if some of the distinctive pathological features of Bloom syndrome might reflect altered gene expression, we analyzed global ...
ORGANISM(S): Homo sapiens Mus musculus 
2014-06-12 | GSE54502 | GEO
ProteomicsThe Bloom’s syndrome helicase BLM functions as a homodimer within the Bloom’s complex
Homologous recombination (HR) is an essential and highly regulated cellular process. Unintended HR in somatic cells is potentially deleterious; it can result in translocations and/or somatic cell loss of heterozygosity. This is suppressed by the BLM protein in combination with topoisomerase III, RM...
ORGANISM(S): Homo sapiens (Human) 
2022-01-17 | PXD011078 | Pride
Blm Crosslinking ms Structural proteomics Bloom’s syndrome 
TranscriptomicsTranscription profiling of S. cerevisiae sgs1 mutant and wild type strains grown under DNA damaging and control conditions
Wild type and sgs1 null yeast were grown under DNA damaging (with MMS) conditions or without treatment to log phase and their transcriptional profiles compared. The human aging diseases Werner and Bloom syndromes are a result of mutation of the WRN and BLM genes, respectively. The SGS1 gene of Sacch...
ORGANISM(S): Saccharomyces cerevisiae 
2007-07-07 | E-GEOD-423 | biostudies-arrayexpress
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