Results 111 to 120 of about 1,243 (149)

Uncovering the Genetic Basis of Porcine Resilience Through GWAS of Feed Intake Data. [PDF]

Animals (Basel)
Wang Z, Xin W, Li M, Duan D, Han J, Wang M, Zhou S, Li X.   +7 more
europepmc   +1 more source

Mechanisms of ribosomopathy and phase separation-related ribosomopathy. [PDF]

J Zhejiang Univ Sci B
Pan Z, Lin G, Liu H, Li G, Zhang X, Dai J.   +5 more
europepmc   +1 more source

Machine learning-based signature for prognosis and drug sensitivity in hepatocellular carcinoma using glycolysis-related gene. [PDF]

Oncol Lett
Zhou Y, Liu W, Fang Z, Zhou K, Huang X, Lu S, Zhang W, Wen Q, Chen X, Xiao Z.   +9 more
europepmc   +1 more source

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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.
Rita Shiang, Timothy P York
exaly   +3 more sources

A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome

International Journal of Pediatric Otorhinolaryngology, 2021
The purpose of this study is that analyze the clinical characters of Treacher Collins syndrome (TCS) with the de nove TCOF1 mutation and emphasize the genetic research result.Genomic DNA from the proband and his parents were extracted from 200 to 400 μl of peripheral blood samples.
Haisheng, Zeng, Mingyu, Xie, Jianbo, Li, Haoqiang, Xie, Xiaomei, Lu   +4 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

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 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

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