Results 121 to 130 of about 5,232 (224)

Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of facioscapulohumeral muscular dystrophy

eLife, 2019
DUX4 is a transcription factor whose misexpression in skeletal muscle causes facioscapulohumeral muscular dystrophy (FSHD). DUX4’s transcriptional activity has been extensively characterized, but the DUX4-induced proteome remains undescribed.
Sujatha Jagannathan, Yuko Ogata, Philip R Gafken, Stephen J Tapscott, Robert K Bradley   +4 more
doaj   +1 more source

The second European interdisciplinary Ewing sarcoma research summit – A joint effort to deconstructing the multiple layers of a complex disease [PDF]

, 2016
Despite multimodal treatment, long term outcome for patients with Ewing sarcoma is still poor. The second “European interdisciplinary Ewing sarcoma research summit” assembled a large group of scientific experts in the field to discuss their latest ...
Amatruda, James, Brunet, Erika, Burdach, Stefan, Cidre-Aranaz, Florencia, Kovar, Heinrich, Álava Casado, Enrique de   +5 more
core  

Hypoxia enhances human myoblast differentiation: involvement of HIF1α and impact of DUX4, the FSHD causal gene [PDF]

, 2023
Thuy-Hang Nguyen, Lise Paprzycki, Alexandre Legrand, Anne‐Émilie Declèves, Philipp Heher, Maelle Limpens, Alexandra Belayew, Christopher R. S. Banerji, Peter S. Zammit, Alexandra Tassin   +9 more
openalex   +1 more source

SIX transcription factors are necessary for the activation of DUX4 expression in facioscapulohumeral muscular dystrophy

Skeletal Muscle
Background Facioscapulohumeral muscular dystrophy (FSHD) is a common and progressive muscle wasting disease that is characterized by muscle weakness often first noticed in the face, the shoulder girdle and upper arms before progressing to the lower limb ...
Amelia Fox, Jonathan Oliva, Rajanikanth Vangipurapu, Francis M. Sverdrup   +3 more
doaj   +1 more source

Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design. [PDF]

, 2019
Accelerating cures for children with cancer remains an immediate challenge as a result of extensive oncogenic heterogeneity between and within histologies, distinct molecular mechanisms evolving between diagnosis and relapsed disease, and limited ...
Baxter, Patricia, Bendak, Katerina, Berko, Esther R, Bowen, Jay, Braun, Frank K, Bryan, Anthony C, Böhm, Julia W, Cardenas, Maria F, Chen, Yidong, Coppens, Sara E, Cross, Katherine L, Diskin, Sharon J, Doddapaneni, HarshaVardhan, Du, Yunchen, Egolf, Laura E, Evans, Kathryn, Farrel, Alvin, Gaonkar, Krutika S, Gastier-Foster, Julie M, Gatto, Gregory J, Gorlick, Richard, Greene, Casey S, Haber, Michelle, Hart, Lori S, Haussler, David, Houghton, Peter J, Jayaseelan, Joy, Kalletla, Karthik, Kendsersky, Nathan M, Kolb, E Anders, Krytska, Kateryna, Kurmashev, Dias, Kurmasheva, Raushan T, Leraas, Kristen M, Li, Xiao-Nan, Lindsay, Holly B, Lock, Richard B, Lopez, Gonzalo, Maris, John M, Marshall, Glenn M, Mayoh, Chelsea, McCalmont, Hannah, McCoy, Kristyn, Modi, Apexa, Momin, Zeineen, Morton, Christopher, Mosse, Yael P, Nance, Jonas, Patel, Khushbu, Pfeil, Jacob, Qi, Lin, Raman, Pichai, Rathi, Komal S, Reynolds, C Patrick, Rokita, Jo Lynne, Sacks, Gregory I, Sanchez, Yolanda, Shu, Jack, Smith, Malcolm A, Tyrrell, Vanessa, Upton, Kristen A, Vaksman, Zalman, Vaske, Olena Morozova, Way, Gregory P, Wheeler, David A, Zhang, Huiyuan, Zhang, Wendong, Zhao, Sibo, Zheng, Siyuan   +68 more
core  

Loss of CIC promotes mitotic dysregulation and chromosome segregation defects [PDF]

, 2019
Background: CIC is a transcriptional repressor inactivated by loss-of-function mutations in several cancer types, including gliomas, lung cancers, and gastric adenocarcinomas.
Aparicio, Samuel A. J. R., Brothers, William, Cairncross, J. Gregory, Chan, Jennifer A., Chan, Susanna Y., Chittaranjan, Suganthi, Coope, Robin, Corbett, Richard D., Gagliardi, Alessia, Hughes, Chistopher S., Laks, Emma, LeBlanc, Veronique G., Lee, Stephen Dongsoo, Lum, Amy, Marra, Marco A., Moradian, Annie, Morin, Gregg B., Pleasance, Stephen, Song, Jungeun, Tanveer Ahmad, Shiekh, Yip, Stephen   +20 more
core   +1 more source

Supergirl scorned : lessons about young femininity in an Australian television satire

, 2010
In this paper I explore the popular Australian television character of Ja’mie King – a teenage private school girl created and performed by male comedian Chris Lilley.
Charles, Claire E.
core   +1 more source

DUX4 in Cells and Mice

, 2008
By targeting each FSHD candidate gene to a doxycycline-inducible locus in murine C2 myoblasts, we have shown that DUX4 is uniquely toxic, that this toxicity is caused by sensitizing cells to oxidative stress, and that both Pax3 and Pax7 act as dominant inhibitors of the DUX4 phenotype.
Bosnakovski, Darko, Kyba, Michael
openaire   +1 more source

High Frequency Hearing Loss and Hyperactivity in DUX4 Transgenic Mice

PLOS ONE, 2016
Facioscapulohumeral muscular dystrophy (FSHD) is caused by mutations leading to ectopic expression of the transcription factor DUX4, and encompasses both muscle-related and non-muscle phenotypes. Mouse models bearing this gene represent valuable tools to investigate which pathologies are due to DUX4 expression, and how DUX4 leads to these pathologies ...
Dandapat A, Perrin BJ, Cabelka C, Razzoli M, Ervasti JM, Bartolomucci A, Lowe DA, Kyba M   +7 more
openaire   +5 more sources

DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis [PDF]

, 2016
Paul Knopp, Yvonne D. Krom, Christopher R. S. Banerji, Maryna Panamarova, Louise A. Moyle, Bianca den Hamer, Silvère M. van der Maarel, Peter S. Zammit   +7 more
openalex   +1 more source