Results 1 to 10 of about 2,358 (194)
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
doaj +7 more sources
Novel nonsense mutation in the TCOF1 gene associated with treacher collins syndrome: A case report [PDF]
Science ProgressTreacher 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.
Santiago Cadena-Ullauri +6 more
doaj +5 more sources
The Role of TCOF1 Gene in Health and Disease: Beyond Treacher Collins Syndrome [PDF]
International Journal of Molecular Sciences, 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. The proper functioning of these organelles is ensured by specific proteins that maintain nucleolar structure and mediate key nucleolar ...
Małgorzata Grzanka +1 more
exaly +4 more sources
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
doaj +9 more sources
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
doaj +4 more sources
Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome [PDF]
Journal of Applied Genetics, 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. TCS is an autosomal dominant disorder and it occurs in the general population at a frequency of 1 in 50,000 live ...
Bozena Anna Marszałek-Kruk +2 more
exaly +4 more sources
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
doaj +3 more sources
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
doaj +3 more sources
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
doaj +3 more sources
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.
Dale Henning +2 more
exaly +4 more sources