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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 +8 more
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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
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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 +5 more
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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 +5 more
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Ultrastructure of CIC-DUX4 sarcoma: the first pathological report
Ultrastructural Pathology, 2020CIC-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 +9 more
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The role of DUX4 in herpesviral infection
2021Herpesviren sind sehr verbreitete humane Pathogene, die eine Vielzahl von Erkrankungen wie z.B. Lippenherpes, Windpocken oder Mononukleose auslösen. Während die Infektionen in Menschen mit einem gesunden Immunsystem meist mild verlaufen, können sie für Neugeborene oder Immungeschwächte sogar lebensbedrohlich sein.
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Estrogen interferes with DUX4 nuclear import
2023DUX4 (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 +7 more
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Ferroptosis as a treatment for CIC-DUX4 sarcoma
CIC-DUX4 sarcoma (CDS) is a rare, undifferentiated small round cell malignancy. CDS occurs due to a recurrent chromosomal translocation, fusing the transcriptional repressor Capicua (CIC) to DUX4, a developmental gene typically repressed in adult somatic cells.Raleigh, Mariya, 0009-0006-0975-2286
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Relationship of DUX4 and target gene expression in FSHD myocytes
Human Mutation, 2021Xiangduo Kong +2 more
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