Results 11 to 20 of about 2,358 (194)

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients [PDF]

Journal of Clinical Laboratory Analysis, 2020
AbstractBackgroundTreacher Collins syndrome (TCS) is a rare autosomal dominant or recessive disorder, that involves unique bilateral craniofacial malformations. The phenotypes of TCS are extremely diverse. Interventional surgery can improve hearing loss and facial deformity in TCS patients.MethodWe recruited seven TCS families.
Chuan Zhang, Lisha An, Huiqin Xue, Shengju Hao, Yousheng Yan, Qinghua Zhang, Xiaohua Jin, Qian Li, Bingbo Zhou, Xuan Feng, Panpan Ma, Xing Wang, Xue Chen, Cuixia Chen, Zongfu Cao, Xu Ma   +15 more
openaire   +3 more sources

Nucleolar Organization in Response to Transcriptional Stress [PDF]

Cancer Science, Volume 116, Issue 10, Page 2649-2656, October 2025.
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.
Rikiya Imamura, Takaaki Yasuhara
wiley   +2 more sources

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   +2 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

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

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   +2 more sources

Mutation in exon 13 of the TCOF1 gene in patient with Treacher Collins syndrome [PDF]

Acta fytotechnica et zootechnica, 2016
Treacher Collins Syndrome (TCS) is associated with an abnormal differentiation of the first and the second pharyngeal arch during fetal development. This causes mostly craniofacial deformities, which require numerous corrective surgeries.
Kruszyński, Wojciech, Marszałek-Kruk, Bożena Anna, Moska, Magdalena, Zatoń-Dobrowolska, Magdalena   +3 more
core   +3 more sources

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

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 ...
Dan‐Yan Zhuang, Shu‐Ni Sun, Zhuo‐Jie Hu, Min Xie, Yu‐Xin Zhang, Lu‐Lu Yan, Jie‐Wen Pan, Hai‐bo Li   +7 more
doaj   +2 more sources

A Novel Variant of Treacle Ribosome Biogenesis Factor 1 (TCOF1) Gene Manifesting as Treacher Collins Syndrome [PDF]

Cureus
Treacher Collins syndrome (TCS) is a rare genetic disorder. The clinical presentation of this syndrome can vary among members of the same family. The commonly associated genes with TCS are mostly inherited as autosomal dominant; however, rare autosomal recessive inheritance has been reported.
Tandon, Tanya, Thakral, Abhinav, Moorthy, Divya, Satani, Kimia, Roger, Kim   +4 more
openaire   +3 more sources

The transcription of the main gene associated with Treacher–Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP) [PDF]

Scientific Reports
Treacle ribosome biogenesis factor 1 (TCOF1) is responsible for about 80% of mandibular dysostosis (MD) cases. We have formerly identified a correlation between TCOF1 and CNBP (CCHC-type zinc finger nucleic acid binding protein) expression in human ...
Mauco Gil Rosas, Cielo Centola, Mercedes Torres, Valeria S. Mouguelar, Aldana P. David, Ernesto J. Piga, Dennis Gomez, Nora B. Calcaterra, Pablo Armas, Gabriela Coux   +9 more
doaj   +2 more sources