Results 151 to 160 of about 1,682 (175)

Tcof1-Related Molecular Networks in Treacher Collins Syndrome

Journal of Craniofacial Surgery, 2016
Treacher Collins syndrome (TCS) is a rare, autosomal-dominant disorder characterized by craniofacial deformities, and is primarily caused by mutations in the Tcof1 gene. This article was aimed to perform a comprehensive literature review and systematic bioinformatic analysis of Tcof1-related molecular networks in TCS.
Jiewen, Dai, Jiawen, Si, Minjiao, Wang, Li, Huang, Bing, Fang, Jun, Shi, Xudong, Wang, Guofang, Shen   +7 more
openaire   +2 more sources

TCOF1 is a single-component scaffold of the nucleolar fibrillar center

2022
Abstract Many of the biological structures that exist across the tree of life are built on self-interacting scaffolds, from the actin cytoskeleton to the collagen extracellular matrix. Intracellular membraneless organelles, such as the nucleolus, are biological structures consisting of hundreds of dynamically interacting components, yet
Nima Jaberi-Lashkari, Byron Lee, Fardin Aryan, Eliezer Calo   +3 more
openaire   +1 more source

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

Human Mutation, 2000
Twenty-eight families with a clinical diagnosis of Treacher Collins syndrome were screened for mutations in the 25 coding exons of TCOF1 and their adjacent splice junctions through SSCP and direct sequencing.
Decio Brunoni, Denise Pontes Cavalcanti, Luis G. Alonso   +2 more
exaly   +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

Identification of mutations in TCOF1: Use of molecular analysis in the pre‐ and postnatal diagnosis of Treacher Collins syndrome

American Journal of Medical Genetics Part A, 2004
AbstractTreacher Collins syndrome (TCS) is an autosomal dominant disorder of facial development, which results from mutations in TCOF1. TCS comprises conductive hearing loss, hypoplasia of the mandible and maxilla, downward sloping palpebral fissures and cleft palate.
Dixon, Jill, Ellis, Ian, Bottani, Armand, Temple, Karen, Dixon, Michael James   +4 more
openaire   +3 more sources

[Analysis of TCOF1 mutation in a Chinese patient with Treacher-Collins syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2019
To detect potential mutation of TCOF1 gene in a Chinese family affected with Treacher-Collins syndrome.Clinical data of the patient was collected. The analysis included history taking, clinical examination and genetic testing. All coding regions of the TCOF1 gene were subjected to PCR amplification and Sanger sequencing.A novel mutation c.2261ins G (p ...
Hui, Huang, Yu, Yang, Xian, Wu, Junkai, Duan, Hong, Li, Lijun, Yi, Jingjing, Fu, Zhibin, Guo, Ping, Yue, Wenting, Li, Xiaozhen, Zhang, Xiaochun, Huo, Ka, Chen   +12 more
openaire   +1 more source

Facial asymmetry and clinical manifestations in patients with novel insertion of theTCOF1gene

Clinical Genetics, 2011
Su 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, Y-F, Liu, J-S, Yu, J-Y, Chen, S-J, Chen, Y-J, Lai   +5 more
openaire   +2 more sources

Mosaicism of a TCOF1 mutation in an individual clinically unaffected with treacher collins syndrome

American Journal of Medical Genetics Part A, 2003
AbstractTreacher Collins syndrome (TCS) or mandibulofacial dysostosis is an autosomal dominant disorder of craniofacial development with 60% of its cases arising de novo. Other modes of inheritance such as autosomal recessive, gonadal mosaicism, and chromosomal rearrangement have also been proposed.
Brenda A, Shoo, Elizabeth, McPherson, Ethylin Wang, Jabs   +2 more
openaire   +2 more sources

Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons

Gene, 2004
Treacher 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, Bianca, Gonzales, Dale, Henning, Jill, Dixon, Michael J, Dixon, Benigno C, Valdez   +5 more
openaire   +2 more sources

Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1

Pediatrics International, 2008
AbstractBackground: Treacher Collins syndrome (TCS) is a disorder of craniofacial development, that is caused by mutations in the TCOF1 gene. TCS is inherited as an autosomal dominant trait, and haploinsufficiency of the TCOF1 gene product treacle is proposed to be etiologically involved.Methods: Mutational analysis of the TCOF1 gene was done in 10 ...
Hirotaka, Fujioka, Tadashi, Ariga, Katsumi, Horiuchi, Satoshi, Ishikiriyama, Kimie, Oyama, Makoto, Otsu, Kunihiro, Kawashima, Yuhei, Yamamoto, Tsuneki, Sugihara, Yukio, Sakiyama   +9 more
openaire   +2 more sources