Results 161 to 170 of about 6,776,369 (200)

A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome.

International Journal of Pediatric Otorhinolaryngology, 2013
To 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, Yue Fan, Ying Zhang, Huadan Xue, Xiaowei Chen   +4 more
semanticscholar   +3 more sources

Cloning and functional characterization of the Xenopus orthologue of the Treacher Collins syndrome (TCOF1) gene product.

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.
B. Gonzales, Hushan Yang, D. Henning, B. Valdez   +3 more
semanticscholar   +3 more sources

Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis

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, T. Ariga, H. Fujioka, Kunihiro Kawashima, Yuhei Yamamoto, H. Igawa, T. Sugihara, Y. Sakiyama   +7 more
semanticscholar   +3 more sources

Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo–auriculo–vertebral spectrum and Treacher–Collins syndrome

Clinical Dysmorphology, 2007
Oculo-auriculo-vertebral spectrum, the exact genetic predisposition of which has not yet been resolved, is characterized by varying degrees of the prevalently unilateral underdevelopment of craniofacial structures and spinal anomalies. Here, we analyzed four cases exhibiting multiple features of oculo-auriculo-vertebral spectrum and one case with ...
P. Su, Ju-Shan Yu, Jia-yuh Chen, Suh-Jen Chen, Shuan-yow Li, Hsiao-Neng Chen   +5 more
semanticscholar   +3 more sources

Study of a Family Presenting Novel Mutation of the TCOF1 Gene Associated with Treacher Collins Syndrome

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.
D. Domenico, Tinelli Andrea, Pacella Elena, Malvasi Antonio, Novelli Antonio, C. Chiara, Bertoli Marta, A. Viola, Monti Condesnitt Vito, Epifania Annunziata Anna   +9 more
semanticscholar   +3 more sources

Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma

Biochemical and Biophysical Research Communications, 2004
Mutations in the Treacher Collins syndrome gene, TCOF1, cause a disorder of craniofacial development. We manipulated the levels of Tcof1 and its protein treacle in a murine neuroblastoma cell line to identify downstream changes in gene expression using a microarray platform.
Michael, Mogass, Timothy P, York, Lin, Li, Sinitdhorn, Rujirabanjerd, Rita, Shiang   +4 more
openaire   +2 more sources

[TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery, 2023
Objective:By analyzing the clinical phenotypic characteristics and gene sequences of two patients with Treacher Collins syndrome（TCS）, the biological causes of the disease were determined. Then discuss the therapeutic effect of hearing intervention after bone bridge implantation.
Yonghua, Li, Wenyue, Chi, Ken, Lin, Jinyan, Zu, Hua, Shao, Zhiyong, Mao, Quandong, Chen, Jing, Ma   +7 more
openaire   +1 more source

A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA–protein interaction

Gene, 2005
Treacher Collins syndrome (TCS) is an autosomal dominant craniofacial malformation caused by null mutations in the TCOF1 gene. High inter and intra familial clinical variability, ranging from mild malar hypoplasia to perinatal death due to airway collapse is observed, but, to date, no genotype-phenotype correlation has been reported.
Cibele, Masotti, Lucia M, Armelin-Correa, Alessandra, Splendore, Chin J, Lin, Angela, Barbosa, Mari C, Sogayar, Maria Rita, Passos-Bueno   +6 more
openaire   +2 more sources

Characterization of the TCOF1 Gene Using a Neuroblastoma Cell Line and a Mouse Model

2006
VCU Theses and ...
openaire   +1 more source

[Clinical and genetic analysis of a patient with Treacher Collins syndrome in TCOF1 gene].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery, 2015
To analyze the clinical and genetic features of a patient with Treacher Collins syndrome (TCS), and identify the mutation in TCOF1 gene.The medical history was taken, and general physical examinations and otological examinations were conducted in this patient.
Hongbo, Li, Xu, Zhang, Zhenyue, Li, Jing, Chen, Yu, Lu, Jingjie, Jia, Huijun, Yuan, Dongyi, Han   +7 more
openaire   +1 more source