Article

The transcription of TCOF1 , the main gene associated with Treacher-Collins syndrome, is regulated by G-quadruplexes and Cellular Nucleic acid Binding Protein (CNBP)

2024-01-05

Abstract excerpt

Treacle ribosome biogenesis factor 1 ( TCOF1 ) is responsible for about 80% of mandibular dysostosis (MD) cases. We have formerly identified a correlation between TCOF1 and CNBP (CCHC-type zinc finger nucleic acid binding protein) expression in human mesenchymal cells. Given the established role of CNBP in gene regulation during rostral development, we explored the potential for CNBP to modulate TCOF1 transcriptio...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 1fa4ff32-53a7-5685-a4f1-53d50182473b
DOI: 10.21203/rs.3.rs-3829857/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The transcription of TCOF1 , the main gene associated with Treacher-Collins syndrome, is regulated by G-quadruplexes and Cellular Nucleic acid Binding Protein (CNBP)DOI 10.21203/rs.3.rs-3829857/v1Read

The Role of TCOF1 Gene in Health and Disease: Beyond Treacher Collins SyndromeSemantic proximity Read

A De Novo Mutation Destroys the Central Repeated Domain of TCOF1 in a Chinese Family with Treacher Collins SyndromeSemantic proximity Read

TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.Semantic proximity Read

Fishing the molecular bases of Treacher Collins syndrome.Semantic proximity Read

Pathogenesis of POLR1C-dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model.Semantic proximity Read

Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes.Semantic proximity Read

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.Semantic proximity Read

Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.Semantic proximity Read

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.Semantic proximity Read

A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome.Semantic proximity Read

Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations.Semantic proximity Read