Results 161 to 170 of about 2,358 (194)

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

A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome

The Cleft Palate Craniofacial Journal, 2022
The 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, Yu-Ya Pang, Jia-Yu Shi, Yan-Song Lin, Jia-Lin Sun, Qian Zheng, Bing Shi, Zhong-Lin Jia   +7 more
openaire   +2 more sources

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

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
openaire   +2 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.
Bianca, Gonzales, Hushan, Yang, Dale, Henning, Benigno C, Valdez   +3 more
openaire   +2 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.
Domenico Dell’Edera, Andrea Tinelli, PACELLA, Elena, Antonio Malvasi, Antonio Novelli, Chiara Conte, Marta Bertoli, Viola Alesi, Vito Monti Condesnitt, Anna Epifania Annunziata   +9 more
openaire   +2 more sources

Mutational analysis of theTCOF1gene 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, Tadashi, Ariga, Hirotaka, Fujioka, Kunihiro, Kawashima, Yuhei, Yamamoto, Hiroharu, Igawa, Tsuneki, Sugihara, Yukio, Sakiyama   +7 more
openaire   +2 more sources

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

Novel mutation in the 5′ splice site of exon 4 of theTCOF1gene in the patient with Treacher Collins syndrome

American Journal of Medical Genetics Part A, 2003
AbstractTreacher Collins syndrome (TCS) is caused by mutations in theTCOF1gene. This gene encodes a serine/alanine‐rich protein called treacle. The structure of the entireTCOF1gene was investigated in a patient with TCS. We detected a novel deletion (376delAAGGTGAGTGGGACTGCC) spanning 3 bp of exon 4 and 15 bp of the adjacent intronic sequence.
Bozena, Marszalek, Slawomir A, Wisniewski, Piotr, Wojcicki, Kazimierz, Kobus, Wieslaw H, Trzeciak   +4 more
openaire   +2 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 ...
Pen-Hua, Su, Ju-Shan, Yu, Jia-Yuh, Chen, Suh-Jen, Chen, Shuan-Yow, Li, Hsiao-Neng, Chen   +5 more
openaire   +2 more sources