Results 61 to 70 of about 3,790 (193)

Intraoperative Evaluation of Sarcoma Surgical Margins With Indocyanine Green Fluorescence Imaging: Results From an Observational Study

open access: yesJournal of Surgical Oncology, EarlyView.
ABSTRACT Introduction Sarcomas are rare malignancies that affect both adults and children. Surgical removal with negative histopathological margins is the foundation of sarcoma treatment. Failure to achieve negative margins puts patients at risk of local recurrence (LR). LR rates range between 10% and 30%.
Sumail Bhogal   +13 more
wiley   +1 more source

Optical genome mapping enhanced by refined variant interpretation in pediatric acute lymphoblastic leukemia

open access: yesThe Journal of Pathology, Volume 270, Issue 2, Page 241-254, October 2026.
Abstract Reliable detection of structural variants (SVs) and copy number variations (CNVs) is crucial in the contemporary diagnostics of pediatric B‐cell acute lymphoblastic leukemia (B‐ALL). However, limitations of commonly used conventional and molecular cytogenetic methods may hinder the accurate genetic characterization of patients.
Anna Bekő   +21 more
wiley   +1 more source

Conservation and innovation in the DUX4-family gene network [PDF]

open access: yesNature Genetics, 2017
Facioscapulohumeral dystrophy (FSHD; MIM158900, MIM158901) is caused by misexpression of the DUX4 transcription factor in skeletal muscle. Animal models of FSHD are hindered by incomplete knowledge regarding the conservation of the DUX4 transcriptional program in other species.
Whiddon, Jennifer L.   +4 more
openaire   +2 more sources

Cup‐Like Nuclei Is a Hallmark of DUX4/ERG Acute Lymphoblastic Leukemia and Reveals Cytoplasmic Mitochondria Accumulation

open access: yesPediatric Blood &Cancer, Volume 73, Issue 9, September 2026.
ABSTRACT Cup‐like nuclei are a distinctive morphological feature observed in certain cases of acute lymphoblastic leukemia (ALL). We provide evidence that they characterize DUX4/ERG ALL independently of IKZF1 deletion and reveal marked mitochondrial accumulation in this ALL subset.
Chloé Arfeuille   +9 more
wiley   +1 more source

Structural basis of DUX4/IGH-driven transactivation [PDF]

open access: yesLeukemia, 2018
Oncogenic fusions are major drivers in leukemogenesis and may serve as potent targets for treatment. DUX4/IGHs have been shown to trigger the abnormal expression of ERGalt through binding to DUX4-Responsive-Element (DRE), which leads to B-cell differentiation arrest and a full-fledged B-ALL. Here, we determined the crystal structures of Apo- and DNADRE-
Xue Dong   +9 more
openaire   +2 more sources

Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity

open access: yesSkeletal Muscle, 2020
Background All types of facioscapulohumeral muscular dystrophy (FSHD) are caused by the aberrant activation of the somatically silent DUX4 gene, the expression of which initiates a cascade of cellular events ultimately leading to FSHD pathophysiology ...
Takako I. Jones   +8 more
doaj   +1 more source

Delivery Systems for Therapeutic Genome Editing: Challenges, Innovations, and Future Perspectives

open access: yesMedComm, Volume 7, Issue 7, July 2026.
Schematic illustration of four emerging CRISPR–Cas delivery platforms defined by distinct design principles and structural features: virus‐mimicking nanosystems (e.g., VLPs), cell‐derived extracellular vesicles, cell‐penetrating peptides, and stimuli‐responsive scaffolds. These platforms enable spatiotemporally controlled delivery of RNPs, mRNA, or DNA
Meijia Yang   +9 more
wiley   +1 more source

Expression of DUX4-fl in human tissues.

open access: yes, 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

Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy

open access: yesAnnals 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

DUX4 expression phenotypes.

open access: yes, 2016
DUX4 expression phenotypes.
Megan Parilla (2550397)   +2 more
core   +1 more source

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