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
Journal 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, Matthew Gong, William Li, Brenda Diergaarde, Alma Heyl, Clark Roth, Lawrence Garvin II, Alexander Hoffman, Amanda Locker, Ines Lohse, Maria Silvaggio, Stella Lee, Richard McGough, Kurt Weiss +13 morewiley +1 more sourceOptical genome mapping enhanced by refined variant interpretation in pediatric acute lymphoblastic leukemia
The 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, Borbála Péterffy, Alex Hughes, Janka Sára Jakab, Irén Haltrich, Kristóf Balázs Árvai, Gábor Bedics, Katalin Csonka, Gergő Papp, Dóra Kapczár, Bettina Aranka Bohusné Barta, Lajos László Hegyi, Gábor Szalóki, Gábor Barna, András Matolcsy, Bálint Egyed, Zsuzsanna Hevessy, Anne Benard‐Slagter, Sander Palit, Suvi Savola, Csaba Bödör, Donát Alpár +21 morewiley +1 more sourceConservation and innovation in the DUX4-family gene network [PDF]
Nature 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., Langford, Ashlee T., Wong, Chao-Jen, Zhong, Jun Wen, Tapscott, Stephen J. +4 moreopenaire +2 more sourcesCup‐Like Nuclei Is a Hallmark of DUX4/ERG Acute Lymphoblastic Leukemia and Reveals Cytoplasmic Mitochondria Accumulation
Pediatric 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, Hugo Roux, Odile Fenneteau, Aurélie Caye‐Eude, Alexia Kinoo, Yoann Vial, André Baruchel, Marion Strullu, Elodie Lainey, Hélène Cavé +9 morewiley +1 more sourceStructural basis of DUX4/IGH-driven transactivation [PDF]
Leukemia, 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, Weina Zhang, Haiyan Wu, Jinyan Huang, Ming Zhang, Pengran Wang, Hao Zhang, Zhu Chen, Sai-Juan Chen, Guoyu Meng +9 moreopenaire +2 more sourcesTransgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity
Skeletal 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, Guo-Liang Chew, Pamela Barraza-Flores, Spencer Schreier, Monique Ramirez, Ryan D. Wuebbles, Dean J. Burkin, Robert K. Bradley, Peter L. Jones +8 moredoaj +1 more sourceDelivery Systems for Therapeutic Genome Editing: Challenges, Innovations, and Future Perspectives
MedComm, 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, Yiqiong Song, Ziyang Wang, Ke Chao, Lifeng Li, Xu Zhang, Xiaoran Duan, Chenglong Yu, Ruyue Xue, Jie Zhao +9 morewiley +1 more sourceExpression 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), Galina N. Filippova (169552), Linda N. Geng (360242), Carol B. Ware (360247), Daniel G. Miller (169553), Rabi Tawil (169550), Silvère M. van der Maarel (1389870), Lauren Snider (360240), Michael Kyba (121283), Stephen J. Tapscott (269326), Richard J. L. F. Lemmers (360244) +10 morecore +1 more sourceElectrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy
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, Michael P. McDermott, Russell J. Butterfield, Bakri Elsheikh, Kate Eichinger, Nicholas E. Johnson, Doris G. Leung, Samantha LoRusso, Leann Lewis, William B. Martens, Perry B. Shieh, Leo H. Wang, Michaela Walker, Rabi Tawil, Jeffrey M. Statland, ReSolve Investigators of the FSHD‐CTRN, Jeffrey Statland, Mazen Dimachkie, Constantine Farmakidis, Mamantha Pasnoor, Duaa Jabari, Omar Jawdat, Melissa Currence, Sandhya Sasidharan, Kiley Higgs, Michaela Walker, Rebecca Clay, Rabi Tawil, Johanna Hamel, Kate Eichinger, Leann Lewis, Samantha LoRusso, Bakri Elsheikh, W. David Arnold, Kristina Kelly, Marco Tellez, Leo H. Wang, Matthew K Preston, Catherine Kieu, Aliya Shabbir, Russell Butterfield, Clark Moser, Melissa McIntyre, Amelia Wilson, Sarah Moldt, Katheryn Wagner, Doris Leung, Andrea Jaworek, Nikia Stinson, Mary Yep, Perry Shieh, Christy Skura, Jennifer Huynh, Nicholas Johnson, Amanda Butler, Aileen Jones, Jodie Howell, Karlien Mul, Valeria Sansone, Elena Carraro, Valentina Franchino, Erica DiNatale, Michael Nani, Sabrina Sacconi, Luisa Villa, Giulia Tammam, Jeremy Garcia, Manuela Gambella, Sandray Ayari +68 morewiley +1 more source