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Article

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.

Human molecular genetics - 15 Jul 2007

Hilton Emma N, Manson Forbes D C, Urquhart Jill E, Johnston Jennifer J, Slavotinek Anne M, Hedera Peter, Stattin Eva-Lena, Nordgren Ann, Biesecker Leslie G, Black Graeme C M

Abstract excerpt

Oculofaciocardiodental (OFCD) syndrome is an X-linked male lethal condition encompassing cardiac septal defects, as well as ocular and dental anomalies. The gene mutated in OFCD syndrome, the BCL-6 corepressor (BCOR), is part of a transcriptional repression complex whose transcriptional targets remain largely unknown. We reviewed cases of OFCD syndrome and identified patients exhibiting defective lateralization...

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Source

Identifiers

PMID: 17517692
DOI: 10.1093/hmg/ddm125

Genes

BCOR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.PMID 17517692Read ↗

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.Semantic proximity Read ↗

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.Semantic proximity Read ↗

Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.Semantic proximity Read ↗

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.Semantic proximity Read ↗

A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS.Semantic proximity Read ↗

A role of the cryptic gene in the correct establishment of the left-right axis.Semantic proximity Read ↗

Roles of the cilium-associated gene CCDC11 in left-right patterning and in laterality disorders in humans.Semantic proximity Read ↗

The Axenfeld-Rieger Syndrome Gene FOXC1 Contributes to Left-Right Patterning.Semantic proximity Read ↗

Function of Rieger syndrome gene in left-right asymmetry and craniofacial development.Semantic proximity Read ↗

Role of the Transcriptional Corepressor Bcor in Embryonic Stem Cell Differentiation and Early Embryonic DevelopmentSemantic proximity Read ↗

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.Semantic proximity Read ↗

Maternal Xenopus Zic2 negatively regulates Nodal-related gene expression during anteroposterior patterning.Semantic proximity Read ↗

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