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)
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DOI: 10.1002/gcc.23033
Abstract: B‐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… read more here.
Keywords: terminus dux4; immunohistochemistry; methodology; dux4 ... See more keywords
Human DUX4 and mouse Dux interact with STAT1 and broadly inhibit interferon-stimulated gene induction
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DOI: 10.1101/2022.08.09.503314
Abstract: DUX4 activates the first wave of zygotic gene expression in the early embryo. Mis-expression of DUX4 in skeletal muscle causes facioscapulohumeral dystrophy (FSHD), whereas expression in cancers suppresses IFNγ-induction of MHC Class I and contributes… read more here.
Keywords: stat1 broadly; dux4; mouse dux; expression ... See more keywords
Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene
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DOI: 10.1136/jmedgenet-2020-107041
Abstract: Background Facioscapulohumeral dystrophy (FSHD) is an inherited muscular dystrophy clinically characterised by muscle weakness starting with the facial and upper extremity muscles. A disease model has been developed that postulates that failure in somatic repression… read more here.
Keywords: dux4; fshd; disease; d4z4 repeat ... See more keywords
Abstract 1485: Allelic specificity of immunoglobulin heavy chain (IGH) translocation in B-cell acute lymphoblastic leukemia (B-ALL) unveiled by long-read sequencing
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DOI: 10.1158/1538-7445.am2018-1485
Abstract: Translocation that juxtaposes the IGH@ enhancer (Eμ) to a proto-oncogene such as CRLF2, EPOR and DUX4 is a common oncogenic mechanism that drives B-ALL. B-cells achieve immunoglobulin monospecificity by inactivating one of the IGH alleles… read more here.
Keywords: seq; dux4; long read; translocation ... See more keywords
A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy
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DOI: 10.1371/journal.pone.0192657
Abstract: The Double homeobox 4 (DUX4) gene is an important regulator of early human development and its aberrant expression is causal for facioscapulohumeral muscular dystrophy (FSHD). The DUX4-full length (DUX4-fl) mRNA splice isoform encodes a transcriptional… read more here.
Keywords: dux4; muscular dystrophy; pathology; facioscapulohumeral muscular ... See more keywords
NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins
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DOI: 10.7554/elife.31023
Abstract: The DUX4 transcription factor is encoded by a retrogene embedded in each unit of the D4Z4 macrosatellite repeat. DUX4 is normally expressed in the cleavage-stage embryo, whereas chromatin repression prevents DUX4 expression in most somatic… read more here.
Keywords: dux4; repression; mbd3l proteins; nurd caf ... See more keywords