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TranscriptomicsWhole-exome sequencing identifies mutations of BCOR in acute myeloid leukemia with normal karyotype
Among acute myeloid leukemias (AML) with normal karyotype (CN-AML), NPM1 and CEBPA mutations define WHO provisional entities accounting for ~60% of cases, but the remaining ~40% remains poorly characterized. By whole exome-sequencing (WES) of one CN-AML patient lacking mutations in NPM1, CEBPA, FLT3...
ORGANISM(S): Homo sapiens 
2011-12-16 | E-GEOD-30442 | biostudies-arrayexpress
TranscriptomicsBCOR-regulated genes in human oculo-facio-cardio-dental syndrome
Oculo-facio-cardio-dental syndrome (OFCD) is a rare genetic disorder characterized by teeth with extremely long roots (radiculomegaly), and craniofacial, eye and cardiac abnormalities. The mutation of the transcriptional co-repressor BCOR has been identified as being responsible for oculo-facio-card...
ORGANISM(S): Homo sapiens 
2009-07-23 | E-GEOD-15214 | biostudies-arrayexpress
ProteomicsAnalysis of a BCOR internal tandem duplication in mouse embryonic stem cell to neuronal precursor differentiation
To identify vPRC1.1 protein interactions in the context of a mutant BCOR-ITD subunit, we performed cross-linking followed by two-step affinity purification of BioTAP-tagged wildtype BCOR (BCOR-WT) or BCOR-ITD mutant protein in mES cells
ORGANISM(S): Mus musculus (Mouse) 
2025-06-28 | PXD064792 | Pride
Vprc1.1 Bcor Mesc Pcgf1 Polycomb 
TranscriptomicsA new subtype of bone sarcoma defined by BCOR-CCNB3 gene fusion
The identification of subtype-specific translocations has revolutionized diagnostics of sarcoma and provided new insight into oncogenesis. We used RNA-Seq to investigate samples diagnosed as small round cell tumors of bone, possibly Ewing sarcoma, but lacking the canonical EWSR1-ETS translocation. A...
ORGANISM(S): Homo sapiens 
2012-03-03 | E-GEOD-34800 | biostudies-arrayexpress
ProteomicsBCOR mutations deregulate cell cycle and hypoxic adaptation pathways in retinoblastoma
Retinoblastoma (RB) is the most common pediatric eye cancer. Most cases of RB are initiated by bi-allelic mutational inactivation of the RB1 gene, yet most RB tumors harbor additional genomic aberrations that may promote tumor progression. After RB1, the gene that is most commonly mutated gene in RB...
ORGANISM(S): Homo sapiens (Human) 
2026-01-12 | PXD067854 | Pride
Hypoxia Retinoblastoma Bcor Cell cycle 
TranscriptomicsBCOR controls maintenance of haematopoietic stem cell quiescence and regulates myeloid cell proliferation and differentiation [Illumina]
BCOR is a component of a variant Polycomb group repressive complex 1 (PRC1) complex. Recently, we and others reported recurrent somatic BCOR loss-of-function mutations in myelodysplastic syndrome and acute myelogenous leukaemia (AML). However the role of BCOR in normal hematopoiesis is largely unkno...
ORGANISM(S): Mus musculus 
2015-12-31 | E-GEOD-69620 | biostudies-arrayexpress
ProteomicsUSP7, a protein involved in Hao-Fountain syndrome, controls neuronal differentiation via BCOR-ncPRC1.1
Pathogenic variants in the ubiquitin-specific protease 7 (USP7) gene cause a neurodevelopmental disorder called Hao-Fountain syndrome. However, which of its pleiotropic substrates are relevant for neurodevelopment is undetermined. Here, we present a combination of quantitative proteomics, transcript...
ORGANISM(S): Homo sapiens (Human) 
2025-09-08 | PXD051616 | Pride
Usp7 Prm Dia-ms Label free quantitative proteomics Neuronal differentiation Bcor Hao-fountain syndrome 
TranscriptomicsBCOR controls maintenance of haematopoietic stem cell quiescence and regulates myeloid cell proliferation and differentiation [Affymetrix]
BCOR is a component of a variant Polycomb group repressive complex 1 (PRC1) complex. Recently, we and others reported recurrent somatic BCOR loss-of-function mutations in myelodysplastic syndrome and acute myelogenous leukaemia (AML). However the role of BCOR in normal hematopoiesis is largely unkno...
ORGANISM(S): Homo sapiens 
2015-12-31 | E-GEOD-69565 | biostudies-arrayexpress
GenomicsEZH2 and BCL6 cooperate to assemble CBX8-BCOR Polycomb complex to repress bivalent promoters, mediate germinal center formation and promote lymphomagenesis [ChIP-seq]
The EZH2 histone methyltransferase mediates the humoral immune response and drives lymphomagenesis through de novo formation of bivalent chromatin domains at critical germinal center (GC) B cell promoters. Herein we show that the actions EZH2 in driving GC formation and lymphoma precursor lesions ar...
ORGANISM(S): Homo sapiens 
2016-07-20 | E-GEOD-81623 | biostudies-arrayexpress
UnknownBCOR Overexpression Is a Highly Sensitive Marker in Round Cell Sarcomas With BCOR Genetic Abnormalities.
Not available
S-EPMC5106294 | biostudies-literature
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