Results 31 to 40 of about 1,682 (175)
Scientific ReportsTreacle 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 ...
Mauco Gil Rosas +9 more
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A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome
BMC Medical GenomicsBackground Treacher Collins syndrome (TCS; OMIM 154500) is a craniofacial developmental disorder. Methods To investigate the genetic features of a four-generation Chinese family with TCS, clinical examinations, hearing tests, computed tomography, whole ...
Haojie Sun +7 more
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Apoptotic metabolites ameliorate bone aging phenotypes via TCOF1/FLVCR1-mediated mitochondrial homeostasis [PDF]
Journal of NanobiotechnologyOver 50 billion cells undergo apoptosis each day in an adult human to maintain tissue homeostasis by eliminating damaged or unwanted cells. Apoptotic deficiency can lead to age-related diseases with reduced apoptotic metabolites.
Yan Qu +11 more
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Treacher Collins syndrome: Unmasking the role of Tcof1/treacle [PDF]
The International Journal of Biochemistry & Cell Biology, 2009 Treacher Collins syndrome (TCS) is a rare congenital birth disorder characterized by severe craniofacial defects. The syndrome is associated with mutations in the TCOF1 gene which encodes a putative nucleolar phosphoprotein known as treacle. An animal model of the severe form of TCS, generated through mutation of the mouse homologue Tcof1 has recently ...
Daisuke, Sakai, Paul A, Trainor
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TCOF1 coordinates oncogenic activation and rRNA production and promotes tumorigenesis in HCC [PDF]
Cancer Science, 2021 AbstractTreacle ribosome biogenesis factor 1 (TCOF1) is a nucleolar factor that regulates ribosomal DNA (rDNA) transcription in the nucleolus. TCOF1 has been previously reported to be implicated in Treacher Collins–Franceschetti syndrome (TCS), a congenital disorder of craniofacial development.
Chaoshen Wu +6 more
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Cell Reports, 2023 Summary: Biomolecular condensates are implicated in core cellular processes such as gene regulation and ribosome biogenesis. Although the architecture of biomolecular condensates is thought to rely on collective interactions between many components, it ...
Nima Jaberi-Lashkari +3 more
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Stem Cell Research, 2021 Mutations of the Treacle Ribosome Biogenesis Factor 1 (TCOF1) gene can lead to Treacher Collins syndrome (TCS). In present study, the peripheral blood mononuclear cells (PBMCs) of a 33-year-old male TCS patient with the heterozygous TCOF1 mutation c ...
Zeya Zhang, Nuo Si, Bo Pan, Haiyue Jiang
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Regulation of the Mouse Treacher Collins Syndrome Homolog (Tcof1) Promoter through Differential Repression of Constitutive Expression [PDF]
, 2008 Treacher Collins syndrome is an autosomal-dominant mandibulofacial dysostosis caused by haploinsufficiency of the TCOF1 gene product treacle. Mouse Tcof1 protein is approximately 61% identical and 71% similar to treacle, and heterozygous knockout of ...
Shows, Kathryn H. +3 more
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Fishing the molecular bases of Treacher Collins syndrome.
PLoS ONE, 2012 Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, and mutations in the TCOF1 gene are responsible for over 90% of TCS cases.
Andrea M J Weiner +2 more
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A novel frameshift insertion variant in the TCOF1 gene associated with Treacher Collins syndrome. [PDF]
Indian J OphthalmolPremkumar S +5 more
europepmc +3 more sources