Results 211 to 218 of about 5,077 (218)

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 ...
Erin R. Rudzinski, Bradford Siegele, Jon Roberts, Jennifer O. Black, 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.
Munehisa Kito, Takeshi Uehara, Hiroyuki Kanno, Mikiko Kobayashi, Yuki Matsumoto, Maki Ohya, Ayako Tateishi, Kaoru Aoki, Hisashi Tamada, Kenji Sano   +9 more
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DUX4, the rockstar of embryonic genome activation?

The International Journal of Developmental Biology
During the initial days of development, the embryo gradually shifts from reliance on maternally provided RNAs and proteins to regulation of its own development. This transition is marked by embryonic genome activation (EGA). While the factors driving human EGA remain poorly characterized, accumulating evidence suggests that double homeobox 4 (DUX4) is ...
Sonja, Nykänen, Sanna, Vuoristo
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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.
Jinbiao Ma, Yijun Gu, Hehua Liu, Chun Yang, Jixi Li, Xi Chen, Yanqing Gao, Yangyang Li, Yiqing Chen, Jianhua Gan, Baixing Wu, Jing Zhang   +11 more
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Silencing DUX4 Expression in FSHD Cells by CRISPR

2014
Facioscapulohumeral Muscular Dystrophy (FSHD) is an autosomal dominant neuromuscular disease affecting 1 in 20,000 to 1 in 15,000 individuals and is characterized by progressive weakness in the facial, scapular, humeral, truncal, and lower extremity muscles (Tawil and Van Der Maarel Muscle Nerve 2006).
Alec M. DeSimone, Michael Broadsky, Genila Bibat, Kathryn R. Wagner, Charles P. Emerson Jr., Peter L. Jones   +5 more
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Pharmacologic modulation of DUX4-dependent phenotypes in FSHD

Neuromuscular Disorders, 2017
Ning Shen, P. Rahl, Anthony Accorsi, L. Rojas, A. Chang, Joseph Maglio, Angela Cacace   +6 more
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