Novel mutations of
BMC Medical Genetics, 2011 Background Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression.
Rinaldi Fabrizio +5 more
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Case Report: A novel heterozygous variant of the TCOF1 gene in Treacher Collins syndrome [PDF]
Frontiers in PediatricsTreacher Collins syndrome (TCS) is a craniofacial malformation caused by the abnormal development of the first and second pharyngeal arches during embryogenesis.
Lijuan Zhang +4 more
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Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients. [PDF]
J Clin Lab Anal, 2021 Treacher Collins syndrome (TCS) is a rare autosomal dominant or recessive disorder, that involves unique bilateral craniofacial malformations. The phenotypes of TCS are extremely diverse.
Zhang C +15 more
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The Role of TCOF1 Gene in Health and Disease: Beyond Treacher Collins Syndrome. [PDF]
Int J Mol Sci, 2021 The nucleoli are membrane-less nuclear substructures that govern ribosome biogenesis and participate in multiple other cellular processes such as cell cycle progression, stress sensing, and DNA damage response.
Grzanka M, Piekiełko-Witkowska A.
europepmc +5 more sources
The transcription of the main gene associated with Treacher–Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP) [PDF]
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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Treacher Collins Syndrome with a Novel Deletion in the TCOF1 Gene
Erciyes Medical Journal, 2019 Treacher Collins syndrome (TCS) is a rare autosomal dominant congenital disorder characterized by various craniofacial malformations. The estimated incidence is 1 in 50000 live births.
Büşra Eser Çavdartepe +3 more
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Taiwanese Journal of Obstetrics & Gynecology, 2022 Objective: To study prenatal diagnosis of congenital Treacher Collins syndrome, an etiology of craniofacial abnormalities. Case report: We present a case of fetal craniofacial abnormalities identified by antepartum sonography screening in the third ...
Wei Shin Chou +5 more
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Novel nonsense mutation in the TCOF1 gene associated with treacher collins syndrome: A case report. [PDF]
Sci ProgTreacher Collins Syndrome (TCS) is a congenital disorder characterized by craniofacial malformations. In this case, a novel likely pathogenic nonsense variant, in the TCOF1 gene, associated with TCS, was reported.
Cadena-Ullauri S +6 more
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Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome. [PDF]
J Appl Genet, 2012 Treacher Collins syndrome (TCS) is associated with an abnormal differentiation of the first and second pharyngeal arches during fetal development. This causes mostly craniofacial deformities, which require numerous corrective surgeries.
Marszałek-Kruk BA +3 more
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Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects
Molecular Genetics & Genomic Medicine, 2023 Background Rare mutations in multiple genes have been associated with human neural tube defects (NTDs), but their causative roles in NTDs disease are poorly understood.
Fang Wang +3 more
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