Results 121 to 130 of about 1,243 (149)

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

A novel mutation in the TCOF1 gene in a patient with Treacher Collins syndrome

2019
[Abstract not Available]
Cavdartepe, B. Eser, Kocak, N., Yasa, N., Cora, T., Duymus, F.   +4 more
openaire   +1 more source

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

[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

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

Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene

Clinical Dysmorphology, 2009
List of key featuresProminent foreheadGeneral anomalies of external earsMiddle earInner earMicrophthalmiaIris colobomaRetinal colobomaAbnormal eyebrowsAbnormal eyelashesBroad noseLarge noseSmall faceFacial cleftMicrognathiaMicropenisCryptorchid testesHypoplastic scrotumSummaryWe report a case of ...
Chumei, Li, John, Mernagh, Jacqueline, Bourgeois   +2 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