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RNA-sequencing: A reliable tool to unveil transcriptional landscape of paediatric B-other acute lymphoblastic leukaemia. [PDF]

Br J Haematol
Vicente-Garcés C, Fernández G, Esperanza-Cebollada E, Richarte-Franqués M, Crespo-Carrasco A, Montesdeoca S, Isola I, Sarrate E, Cuatrecasas E, Rives S, Dapena JL, Camós M, Vega-García N.   +12 more
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Mousemodel for testing anti-Dux4 therapies for FSHD

Journal of Stem Cell Research & Therapy, 2014
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Erratum for the Research Article "DUX4-r exerts a neomorphic activity that depends on GTF2I in acute lymphoblastic leukemia" by D. Campolungo <i>et al</i>.

Sci Adv
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N‐terminus DUX4‐immunohistochemistry is a reliable methodology for the diagnosis of DUX4‐fused B‐lymphoblastic leukemia/lymphoma (N‐terminus DUX4 IHC for DUX4‐fused B‐ALL)

Genes, Chromosomes and Cancer, 2022
AbstractB‐lymphoblastic leukemia/lymphoma (B‐ALL) is the most common pediatric malignancy and the most commonly diagnosed adult lymphoblastic leukemia. Recent advances have broadened the spectrum of B‐ALL, with DUX4 gene fusions implicated in a subclass occurring in adolescents and young adults and harboring a favorable prognosis.
Bradford J. Siegele, Anat O. Stemmer‐Rachamimov, Henrik Lilljebjorn, Thoas Fioretos, Amanda C. Winters, Paola Dal Cin, Amy Treece, Alisa Gaskell, Valentina Nardi   +8 more
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DUX4 Immunohistochemistry Is a Highly Sensitive and Specific Marker for CIC-DUX4 Fusion-positive Round Cell Tumor

American Journal of Surgical Pathology, 2017
The histologic differential diagnosis of pediatric and adult round cell tumors is vast and includes the recently recognized entity CIC-DUX4 fusion-positive round cell tumor. The diagnosis of CIC-DUX4 tumor can be suggested by light microscopic and immunohistochemical features, but currently, definitive diagnosis requires ancillary genetic testing such ...
Bradford, Siegele, Jon, Roberts, Jennifer O, Black, Erin, Rudzinski, Sara O, Vargas, Csaba, Galambos   +5 more
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Ultrastructure of CIC-DUX4 sarcoma: the first pathological report

Ultrastructural Pathology, 2020
CIC-DUX4 sarcoma (CDS) is a recently identified subtype of small round cell sarcoma. Morphologically, CDS partially resembles Ewing sarcoma (ES) and has been classified as "ES-like sarcoma"; however, detailed clinicopathologic and molecular genetic analyses have indicated that CDS is a new independent disease.
Hisashi, Tamada, Mikiko, Kobayashi, Kenji, Sano, Takeshi, Uehara, Yuki, Matsumoto, Ayako, Tateishi, Maki, Ohya, Munehisa, Kito, Kaoru, Aoki, Hiroyuki, Kanno   +9 more
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Estrogen interferes with DUX4 nuclear import

2023
DUX4 (Double Homeobox Protein 4) pathogenic activity is developed through transcriptional function and is associated with its nuclear localization. Three monopartite nuclear localization signals (NLS) are present in DUX4, but their function has not been completely defined in myoblasts (Corona et al., 2013).
Giada Mele, Fabiola Moretti, Giancarlo Deidda, Patrizia Calandra, Emanuela Teveroni, Silvia Maiullari, Marco Crescenzi, Maria Luisa Casella   +7 more
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Structural basis for multiple gene regulation by human DUX4

Biochemical and Biophysical Research Communications, 2018
DUX4 plays critical role in the molecular pathogenesis of the neuromuscular disorder facioscapulohumeral muscular dystrophy and acute lymphoblastic leukemia in humans. As a master transcription regulator, DUX4 can also bind the promoters and activate the transcription of hundreds ZGA-associated genes.
Yangyang, Li, Baixing, Wu, Hehua, Liu, Yanqing, Gao, Chun, Yang, Xi, Chen, Jing, Zhang, Yiqing, Chen, Yijun, Gu, Jixi, Li, Jinbiao, Ma, Jianhua, Gan   +11 more
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