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Journal of Genetic Syndromes & Gene Therapy, 2012 Treacher Collins syndrome (TCS), due to a mutation in the treacle gene (5q31-32), is the most common type of Mandibulofacial Dysostosis (MDF). The most important features of the considered diseases are hypoplasia, micrognathia, microtia, conductive hearing loss, and cleft palate.
Domenico Dell’Edera +9 more
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TCOF1 promotes the colorectal cancer progression by stabilizing β-catenin
Medical Oncology, 2023 Colorectal cancer (CRC) is one of the highest mortality rates worldwide, and various studies reported to the occurrence of CRC. In particular, the Wnt/β-catenin pathway is known to be a major factor in the progression of CRC and β-catenin involved in the
Dong-Hoon Jin, Ji-Eun You, Hyeseon Yun
exaly +2 more sources
Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations† [PDF]
American Journal of Medical Genetics, Part A, 2008 Isolated cleft palate is among the most common human birth defects. The TCOF1 gene has been suggested as a candidate gene for cleft palate based on animal models.
Ethylin Wang Jabs +2 more
exaly +2 more sources
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A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome
International Journal of Pediatric Otorhinolaryngology, 2021The purpose of this study is that analyze the clinical characters of Treacher Collins syndrome (TCS) with the de nove TCOF1 mutation and emphasize the genetic research result.Genomic DNA from the proband and his parents were extracted from 200 to 400 μl of peripheral blood samples.
Haisheng, Zeng +4 more
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A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome
The Cleft Palate Craniofacial Journal, 2022The purpose of this study is to analyze the clinical characteristics of a Treacher Collins syndrome (TCS) patient carrying a de novo variant of TCOF1, and briefly analyze the correlation between genetic results and clinical features. Also, the pathogenesis and clinical treatment of TCS are reviewed.
Bin Yin +7 more
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Facial asymmetry and clinical manifestations in patients with novel insertion of theTCOF1gene
Clinical Genetics, 2011Su P‐H, Liu Y‐F, Yu J‐S, Chen J‐Y, Chen S‐J, Lai Y‐J. Facial asymmetry and clinical manifestations in patients with novel insertion of theTCOF1gene.This study explored the role ofTCOF1insertion mutations in Taiwanese patients with craniofacial anomalies.
P-H, Su +5 more
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Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons
Gene, 2004Treacher Collins syndrome (TCS) is characterized by an abnormality in craniofacial development during early embryogenesis. TCS is caused by mutations in the gene TCOF1, which encodes the nucleolar phosphoprotein treacle. Genetic and proteomic characterizations of TCS/treacle are based on the previously reported 26 exons of TCOF1.
Rolando B, So +5 more
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A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome
International Journal of Pediatric Otorhinolaryngology, 2013To analyze the clinical features, hearing rehabilitation and family related gene mutations in the Chinese cases of Treacher Collins syndrome (TCS). The purpose of this study is to emphasize the genetic research result correlating with the clinical assessment of TCS in Chinese families.Six patients with tentative diagnosis and family members of two ...
Xu, Zhang +4 more
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Gene, 2005
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development caused by mutations in the TCOF1 gene, which encodes the nucleolar phosphoprotein treacle. We previously reported a function for mammalian treacle in ribosomal DNA gene transcription by its interaction with upstream binding factor.
Bianca, Gonzales +3 more
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Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development caused by mutations in the TCOF1 gene, which encodes the nucleolar phosphoprotein treacle. We previously reported a function for mammalian treacle in ribosomal DNA gene transcription by its interaction with upstream binding factor.
Bianca, Gonzales +3 more
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American Journal of Medical Genetics Part A, 2005
AbstractTreacher Collins Syndrome (TCS) (OMIM 154500) is a congenital, craniofacial disorder inherited as an autosomal dominant trait. The responsible gene for TCS,TCOF1, was mapped to 5q32‐33.1 and identified in 1996. Since then,TCOF1mutations in patients with TCS have been reported from Europe, North and South America, however, no TCS cases from an ...
Katsumi, Horiuchi +7 more
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AbstractTreacher Collins Syndrome (TCS) (OMIM 154500) is a congenital, craniofacial disorder inherited as an autosomal dominant trait. The responsible gene for TCS,TCOF1, was mapped to 5q32‐33.1 and identified in 1996. Since then,TCOF1mutations in patients with TCS have been reported from Europe, North and South America, however, no TCS cases from an ...
Katsumi, Horiuchi +7 more
openaire +2 more sources