Results 1 to 10 of about 1,682 (175)

FOSL1 is a key regulator of a super-enhancer driving TCOF1 expression in triple-negative breast cancer [PDF]

Epigenetics & Chromatin
Triple-negative breast cancer (TNBC) is an aggressive subtype of breast cancer with an unmet clinical need, but its epigenetic regulation remains largely undefined.
Qingling He, Jianyang Hu, Hao Huang, Tan Wu, Wenxiu Li, Saravanan Ramakrishnan, Yilin Pan, Kui Ming Chan, Liang Zhang, Mengsu Yang, Xin Wang, Y. Rebecca Chin   +11 more
doaj   +3 more sources

Identification of novel TCOF1 mutations in Treacher Collins syndrome and their functional characterization [PDF]

Orphanet Journal of Rare Diseases
Background Treacher Collins syndrome (TCS) is a congenital disorder primarily caused by the mutation in the Treacle Ribosome Biogenesis Factor 1 (TCOF1) gene. However, the significance of many TCOF1 mutations remains uncertain.
Ying Chen, Run Yang, Xin Chen, Tianyu Zhang, Chenlong Li, Jing Ma   +5 more
doaj   +4 more sources

Deciphering TCOF1 mutations in Chinese Treacher Collins syndrome patients: insights into pathogenesis and transcriptional disruption [PDF]

Orphanet Journal of Rare Diseases
Background Treacher Collins syndrome (TCS, MIM #154500), a severe congenital disorder, predominantly involves dysplasia of craniofacial bones and is characterized by features such as downslanting palpebral fissures, lower eyelid colobomas, microtia, and ...
Zhuoyuan Jiang, Ke Mao, Bingqing Wang, Hao Zhu, Jiqiang Liu, Ruirui Lang, Baichuan Xiao, Hailin Shan, Qi Chen, Ying Li, Shouqin Zhao, Qingguo Zhang, Huisheng Liu, Yong-Biao Zhang   +13 more
doaj   +2 more sources

Protein pyrophosphorylation by inositol pyrophosphates - detection, function, and regulation. [PDF]

FEBS Lett
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Lampe S, Mohanty TK, Bhandari R, Fiedler D.   +3 more
europepmc   +2 more sources

Nucleolar Organization in Response to Transcriptional Stress. [PDF]

Cancer Sci
In this review, we provide an overview of the research field on nucleolar regulation, mainly focusing on nucleolar organization under transcriptional stress. We also highlight the importance of ribosomal DNA stability, particularly in disease prevention, including cancer.
Imamura R, Yasuhara T.
europepmc   +2 more sources

Integrating imaging and genomics in prenatal Treacher Collins syndrome: evidence for practice and policy [PDF]

Orphanet Journal of Rare Diseases
Background To elucidate the prenatal diagnostic challenges, genetic landscape, and clinical outcomes of Treacher Collins syndrome (TCS), focusing on the role of TCOF1 variants, prenatal ultrasound findings, and counselling implications.
Chunling Li, Wei Huang, Zhongzhi Gan, Yin Ling, Liyan Qiu, Yuanling Xiao, Fu Xiong, Fang Yang   +7 more
doaj   +2 more sources

A tumor microenvironment-focused signature based on m6A and lactylation modification predicts prognosis and immunotherapy response in hepatocellular carcinoma [PDF]

Discover Oncology
This study aims to investigate the role of lactylation and m6A modification-related genes in the tumor microenvironment and immunotherapy for hepatocellular carcinoma (HCC) patients.
Shaohui Zhang, Jianhua Liu, Jun Guan, Huili Ren   +3 more
doaj   +2 more sources

FOSL1 promotes homologous recombination repair and camptothecin resistance via TCOF1-mediated ribosome biogenesis in non-small cell lung cancer [PDF]

Translational Oncology
Background: Camptothecin (CPT) and its derivatives are important chemotherapeutic agents; however, intrinsic and acquired tolerance frequently limits their long-term efficacy.
Chunmei Hao, Luojun Chen, Fuben Liao, Lulu Chen, Yi Yao, Qibin Song   +5 more
doaj   +2 more sources

Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome

Molecular Genetics & Genomic Medicine
Background Treacher Collins Ι syndrome (TCS1, OMIM:154500) is an autosomal dominant disease with a series of clinical manifestations such as craniofacial dysplasia including eye and ear abnormalities, small jaw deformity, cleft lip, as well as repeated ...
Danyan Zhuang, Min Xie, Haibo Li
exaly   +2 more sources

Gene-environment interactions modulate the phenotype severity in mouse models of congenital craniofacial syndromes [PDF]

The Journal of Clinical Investigation
Birth defects are the leading cause of infant mortality, and most inborn errors of development are multifactorial in origin resulting from complex gene-environment interactions.
Sharien Fitriasari, Roberta Fiorino, Thoa H.K. Truong, Mary C. McKinney, Jill Dixon, Michael J. Dixon, Paul A. Trainor   +6 more
doaj   +2 more sources