Results 11 to 20 of about 2,326 (188)

An evolutionarily nascent architecture underlying the formation and emergence of biomolecular condensates [PDF]

Cell Reports, 2023
Summary: Biomolecular condensates are implicated in core cellular processes such as gene regulation and ribosome biogenesis. Although the architecture of biomolecular condensates is thought to rely on collective interactions between many components, it ...
Nima Jaberi-Lashkari, Byron Lee, Fardin Aryan, Eliezer Calo   +3 more
doaj   +3 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

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 T, Thakral A, Moorthy D, Satani K, Roger K.   +4 more
europepmc   +3 more sources

Generation of a human induced pluripotent stem cell line (PSHi002-A) from a Treacher-Collins syndrome patient carrying a TCOF1 gene mutation (c.1966_1969dup)

Stem Cell Research, 2021
Mutations of the Treacle Ribosome Biogenesis Factor 1 (TCOF1) gene can lead to Treacher Collins syndrome (TCS). In present study, the peripheral blood mononuclear cells (PBMCs) of a 33-year-old male TCS patient with the heterozygous TCOF1 mutation c ...
Zeya Zhang, Nuo Si, Bo Pan, Haiyue Jiang
doaj   +3 more sources

Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome. [PDF]

J Appl Genet, 2012
Treacher Collins syndrome (TCS) is associated with an abnormal differentiation of the first and second pharyngeal arches during fetal development. This causes mostly craniofacial deformities, which require numerous corrective surgeries. TCS is an autosomal dominant disorder and it occurs in the general population at a frequency of 1 in 50,000 live ...
Marszałek-Kruk BA, Wójcicki P, Smigiel R, Trzeciak WH.   +3 more
europepmc   +4 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

m6A regulators-based gene expression pattern is associated with immune microenvironment characteristics in hepatocellular carcinoma [PDF]

Scientific Reports
To evaluate the relationship between N6-methyladenosine (m6A) modification-related genes and the immune microenvironment characteristics of hepatocellular carcinoma (HCC), and to evaluate the potential of targeting m6A regulators to sensitize HCC cells ...
Wenjuan Wang, Erxiong Wang, Kunqiao Hong, Wei Jiang, Banlai Ruan, Jie Liu, Jinping Tian, Feng Ding, Qiuyun Guo, Qianshan Ding   +9 more
doaj   +2 more sources