A Novel Variant of Treacle Ribosome Biogenesis Factor 1 (TCOF1) Gene Manifesting as Treacher Collins Syndrome. [PDF]
CureusTreacher Collins syndrome (TCS) is a rare genetic disorder. The clinical presentation of this syndrome can vary among members of the same family. The commonly associated genes with TCS are mostly inherited as autosomal dominant; however, rare autosomal ...
Tandon T +4 more
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Treacher Collins Syndrome with a de Novo 5-bp Deletion in the TCOF1 Gene
Journal of the Formosan Medical Association, 2006 Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with features including malar hypoplasia, micrognathia, microtia, downward slanting palpebral fissures, lower eyelid coloboma, conductive hearing loss, and ...
Pen-Hua Su +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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Identification of novel TCOF1 mutations in Treacher Collins syndrome and their functional characterization [PDF]
Orphanet Journal of Rare DiseasesBackground Treacher Collins syndrome (TCS) is a congenital disorder primarily caused by the mutation in the Treacle Ribosome Biogenesis Factor 1 (TCOF1) gene. However, the significance of many TCOF1 mutations remains uncertain.
Ying Chen +5 more
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Mutation in exon 13 of the TCOF1 gene in patient with Treacher Collins syndrome [PDF]
Acta fytotechnica et zootechnica, 2016 Treacher Collins Syndrome (TCS) is associated with an abnormal differentiation of the first and the second pharyngeal arch during fetal development. This causes mostly craniofacial deformities, which require numerous corrective surgeries.
B. Marszałek-Kruk +3 more
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Definitions, 2020 About 200 mutations in the TCOF1 gene have been identified in people with Treacher Collins syndrome, a condition that affects the development of bones and other tissues of the face.
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The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. [PDF]
Human Molecular Genetics, 2005 Treacher Collins syndrome (TCS) is characterized by defects in craniofacial development, which results from mutations in the TCOF1 gene. TCOF1 encodes the nucleolar phosphoprotein treacle, which interacts with upstream binding factor (UBF) and affects transcription of the ribosomal DNA gene.
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Reduced transcription of
BMC Medical Genetics, 2009 Background Treacher Collins syndrome (TCS) is an autosomal dominant craniofacial disorder caused by frameshift deletions or duplications in the TCOF1 gene.
Camargo Anamaria A +7 more
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An evolutionarily nascent architecture underlying the formation and emergence of biomolecular condensates [PDF]
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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The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor. [PDF]
Proceedings of the National Academy of Sciences, 2004 Treacher Collins syndrome (TCS) is an autosomal dominant disorder characterized by an abnormality of craniofacial development that arises during early embryogenesis. TCS is caused by mutations in the gene TCOF1 , which encodes the nucleolar phosphoprotein treacle. Even though the genetic alterations causing TCS have
B. Valdez +4 more
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