Koka, Hela Zhou, Weiyin McMaster, Mary Bai, Jiwei Luo, Wen Klein, Alyssa Zhang, Tongwu Hua, Xing Li, Xin Wang, Difei
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Chordoma is a rare bone cancer with variable clinical outcomes. Here, we recruited 184 sporadic chordoma patients from the US and Canada and collected their clinical and treatment data. The average age at diagnosis was 45.5 years (Range 5-78) and the chordoma site distribution was 49.2% clivus, 26.2% spinal, and 24.0% sacral. Most patients (97.5%) ...
Deng, Shanshan Lu, Xinjun Wang, Xue Liang, Binyong Xu, Hongwei Yang, Doris Cui, Guofei Yonemura, Andrew Paine, Honor Zhou, Yi
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TBX3 behaves as a tumor suppressor or oncoprotein across cancer. However, TBX3 function remains undetermined in intrahepatic cholangiocarcinoma (iCCA), a deadly primary liver malignancy with few systemic treatment options. This study sought to investigate the impact of TBX3 on iCCA. We found that overexpression of TBX3 strongly inhibited human iCCA...
Kemmler, Cassie Smolikova, Jana Moran, Hannah Mannion, Brandon Knapp, Dunja Lim, Fabian Czarkwiani, Anna Hermosilla Aguayo, Viviana Rapp, Vincent Fitch, Olivia
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The cell type-specific expression of key transcription factors is central to development and disease. Brachyury/T/TBXT is a major transcription factor for gastrulation, tailbud patterning, and notochord formation; however, how its expression is controlled in the mammalian notochord has remained elusive. Here, we identify the complement of notochord...
Wei, Yu-Miao Li, Xiang Xu, Ming Abais, Justine M. Chen, Yang Riebling, Christopher R. Boini, Krishna M. Li, Pin-Lan Zhang, Yang
Published in
Cellular Physiology and Biochemistry
Background/Aims: In addition to their action of lowering blood cholesterol levels, statins modulate biological characteristics and functions of arterial myocytes such as viability, proliferation, apoptosis, survival and contraction. The present study tested whether simvastatin, as a prototype statin, enhances autophagy in coronary arterial myocytes...
Fazel Darbandi, Siavash Nelson, Andrew D Pai, Emily Ling-lin Bender, Kevin J Rubenstein, John LR
BackgroundTbr1 encodes a T-box transcription factor and is considered a high confidence autism spectrum disorder (ASD) gene. Tbr1 is expressed in the postmitotic excitatory neurons of the deep neocortical layers 5 and 6. Postnatally and neonatally, Tbr1 conditional mutants (CKOs) have immature dendritic spines and reduced synaptic density. However,...
Hendrikse, Liam D Haldipur, Parthiv Saulnier, Olivier Millman, Jake Sjoboen, Alexandria H Erickson, Anders W Ong, Winnie Gordon, Victor Coudière-Morrison, Ludivine Mercier, Audrey L
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Medulloblastoma (MB) comprises a group of heterogeneous paediatric embryonal neoplasms of the hindbrain with strong links to early development of the hindbrain1-4. Mutations that activate Sonic hedgehog signalling lead to Sonic hedgehog MB in the upper rhombic lip (RL) granule cell lineage5-8. By contrast, mutations that activate WNT signalling lea...
Prapa, Matina Lago-Docampo, Mauro Swietlik, Emilia M Montani, David Eyries, Mélanie Humbert, Marc Welch, Carrie L Chung, Wendy K Berger, Rolf MF Bogaard, Harm Jan
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Rationale: Despite the increased recognition of TBX4 (T-BOX transcription factor 4)-associated pulmonary arterial hypertension (PAH), genotype-phenotype associations are lacking and may provide important insights. Objectives: To compile and functionally characterize all TBX4 variants reported to date and undertake a comprehensive genotype-phenotype...
Gonzalez-Teran, Barbara Pittman, Maureen Felix, Franco Thomas, Reuben Richmond-Buccola, Desmond Hüttenhain, Ruth Choudhary, Krishna Moroni, Elisabetta Costa, Mauro W Huang, Yu
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Congenital heart disease (CHD) is present in 1% of live births, yet identification of causal mutations remains challenging. We hypothesized that genetic determinants for CHDs may lie in the protein interactomes of transcription factors whose mutations cause CHDs. Defining the interactomes of two transcription factors haplo-insufficient in CHD, GATA...
Rixon, Jordan A Depew, Claire E McSorley, Stephen J
Protective immune responses to Chlamydia infection within the female reproductive tract (FRT) are incompletely understood. MHC class II-restricted CD4 Th1 responses are believed to be vital for bacterial clearance due to their capacity to secrete IFN-γ, but an essential requirement for T-bet-expressing Th1 cells has yet to be demonstrated in the mo...
Romanos, Michèle Allio, Guillaume Roussigné, Myriam Combres, Léa Escalas, Nathalie Soula, Cathy Médevielle, François Steventon, Benjamin Trescases, Ariane Bénazéraf, Bertrand
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Although cell-to-cell heterogeneity in gene and protein expression within cell populations has been widely documented, we know little about its biological functions. By studying progenitors of the posterior region of bird embryos, we found that expression levels of transcription factors Sox2 and Bra, respectively involved in neural tube (NT) and me...