Results 61 to 70 of about 3,423 (190)
, 2023 Thesis (Ph.D.)--University of Washington, 2023DUX4 is a pioneer transcription factor that drives zygotic gene activation (ZGA) in the early embryo. DUX4 is also the causative gene of facioscapulohumeral dystrophy (FSHD).
Smith, Andrew A
core
Temporal variation in p38-mediated regulation of DUX4 in facioscapulohumeral muscular dystrophy
Scientific ReportsFacioscapulohumeral muscular dystrophy (FSHD) is a degenerative muscle disease caused by loss of epigenetic silencing and ectopic reactivation of the embryonic double homeobox protein 4 gene (DUX4) in skeletal muscle.
Rajanikanth Vangipurapu +3 more
doaj +1 more source
Annals of Neurology, Volume 99, Issue 6, Page 1545-1554, June 2026.Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Karlien Mul +68 more
wiley +1 more source
Disease Models & Mechanisms, 2021 Facioscapulohumeral muscular dystrophy (FSHD) is caused by misexpression of DUX4 in skeletal myocytes. As DUX4 is the key therapeutic target in FSHD, surrogate biomarkers of DUX4 expression in skeletal muscle are critically needed for clinical trials ...
Andreia M. Nunes +3 more
doaj +1 more source
Aberrant splicing in transgenes containing introns, exons, and V5 epitopes: lessons from developing an FSHD mouse model expressing a D4Z4 repeat with flanking genomic sequences. [PDF]
PLoS ONE, 2015 The DUX4 gene, encoded within D4Z4 repeats on human chromosome 4q35, has recently emerged as a key factor in the pathogenic mechanisms underlying Facioscapulohumeral muscular dystrophy (FSHD).
Eugénie Ansseau +8 more
doaj +1 more source
CEBP and ZEB2 alterations define three distinct subtypes of B‐cell acute lymphoblastic leukemia
HemaSphere, Volume 10, Issue 6, June 2026.Abstract B‐cell acute lymphoblastic leukemia (B‐ALL) is a heterogeneous malignancy driven by diverse genetic alterations. Among these, CEBP family genes and ZEB2 are recurrently involved, yet the spectrum of genomic mechanisms and their clinical impact remain incompletely defined.
Rathana Kim +29 more
wiley +1 more source
Organoids: From Bench to Bedside Applications
MedComm, Volume 7, Issue 6, June 2026.Organoids, as a groundbreaking biomedical research platform, utilize adult stem cells (ASCs), embryonic stem cells (ESCs), and induced pluripotent stem cells (iPSCs) as sources. By integrating specific growth and differentiation signals within an extracellular matrix (e.g., Matrigel), organoids guide cells to self‐assemble into three‐dimensional ...
Kelin Li +6 more
wiley +1 more source
Expression of DUX4-fl in human tissues.
, 2013 (A) RT-PCR of RNA from human tissues showing DUX4-fl in the testis sample (Testis-1) and DUX4-s in ovary heart and liver. Note that each sample is from an unknown individual and their genotype is not known.
Angelique M. Nelson (360249) +10 more
core +1 more source
eLife, 2015 Facioscapulohumeral muscular dystrophy (FSHD) is a muscular dystrophy caused by inefficient epigenetic repression of the D4Z4 macrosatellite array and somatic expression of the DUX4 retrogene.
Qing Feng +6 more
doaj +1 more source