Results 151 to 160 of about 2,522,918 (175)

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

[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

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

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

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

2006
VCU Theses and ...
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

The Role of TCOF1 Gene in Health and Disease: Beyond Treacher Collins Syndrome

International Journal of Molecular Sciences, 2021
Agnieszka Piekielko-Witkowska, Małgorzata Grzanka   +1 more
exaly  

TCOF1 coordinates oncogenic activation and rRNA production and promotes tumorigenesis in HCC

Cancer Science, 2022
Daoyong Zhang, Dian Xia, Dian Wang
exaly  

Genetic mutations in ribosomal biogenesis gene TCOF1 identified in human neural tube defects

Molecular Genetics & Genomic Medicine, 2023
Jin Guo, Qin Zhang, Fang Wang
exaly