Results 21 to 30 of about 6,776,369 (200)

Fishing the molecular bases of Treacher Collins syndrome. [PDF]

PLoS ONE, 2012
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, and mutations in the TCOF1 gene are responsible for over 90% of TCS cases.
Andrea M J Weiner, Nadia L Scampoli, Nora B Calcaterra   +2 more
doaj   +6 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

[TCOF1 Gene variation in Treacher Collins syndrome and evaluation of speech rehabilitation after bone bridge surgery]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2023
Li Y, Chi W, Lin K, Zu J, Shao H, Mao Z, Chen Q, Ma J.   +7 more
europepmc   +2 more sources

Novel mutation in the TCOF1 gene in a patient with Treacher Collins syndrome

Pediatria Polska, 2014
AbstractTreacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development. The syndrome is characterized by a similar phenotype: micrognathia, microtia, midface hypoplasia, cleft lip and palate. The estimated incidence rate is 1/50000 live births.
B. Marszałek-Kruk, R. Śmigiel, M. Sąsiadek   +2 more
semanticscholar   +2 more sources

The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus. [PDF]

Human Molecular Genetics, 1998
The TCOF1 gene product, treacle, responsible for the craniofacial disorder Treacher Collins syndrome, has been predicted to be a member of a class of nucleolar phosphoproteins based on its primary amino acid sequence. Treacle is a low complexity protein with ten repeating units of acidic and basic residues, each of which contains a large number of ...
S. Winokur, R. Shiang
semanticscholar   +3 more sources

Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report [PDF]

Balkan Journal of Medical Genetics, 2023
Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development characterized by numerous developmental anomalies that are restricted to the head and neck. Most TCS cases are inherited in an autosomal dominant manner.
Lamzouri A, EL Rherbi A, Ratbi I, Laarabi FZ, Chahboune R, Elalaoui SC, Hamdaoui H, Bencheikh RS, Sefiani A   +8 more
doaj   +2 more sources

Mammalian neurogenesis requires Treacle-Plk1 for precise control of spindle orientation, mitotic progression, and maintenance of neural progenitor cells. [PDF]

PLoS Genetics, 2012
The cerebral cortex is a specialized region of the brain that processes cognitive, motor, somatosensory, auditory, and visual functions. Its characteristic architecture and size is dependent upon the number of neurons generated during embryogenesis and ...
Daisuke Sakai, Jill Dixon, Michael J Dixon, Paul A Trainor   +3 more
doaj   +5 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

A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome [PDF]

BMC Medical Genomics
Background Treacher Collins syndrome (TCS; OMIM 154500) is a craniofacial developmental disorder. Methods To investigate the genetic features of a four-generation Chinese family with TCS, clinical examinations, hearing tests, computed tomography, whole ...
Haojie Sun, Xinda Xu, Binjun Chen, Yanmei Wang, Jihan Lyu, Luo Guo, Yasheng Yuan, Dongdong Ren   +7 more
doaj   +2 more sources