Results 51 to 60 of about 2,593 (166)

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, Jacqueline S Domire, Lindsay M Wallace, Jocelyn O Eidahl, Susan M Guckes, Carlee R Giesige, Nettie K Pyne, Alexandra Belayew, Scott Q Harper   +8 more
doaj   +1 more source

Systemic aging fuels heart failure: Molecular mechanisms and therapeutic avenues

ESC Heart Failure, Volume 12, Issue 2, Page 1059-1080, April 2025.
Abstract Systemic aging influences various physiological processes and contributes to structural and functional decline in cardiac tissue. These alterations include an increased incidence of left ventricular hypertrophy, a decline in left ventricular diastolic function, left atrial dilation, atrial fibrillation, myocardial fibrosis and cardiac ...
Zhuyubing Fang, Umar Raza, Jia Song, Junyan Lu, Shun Yao, Xiaohong Liu, Wei Zhang, Shujuan Li   +7 more
wiley   +1 more source

Identification of candidate miRNA biomarkers for facioscapulohumeral muscular dystrophy using DUX4-based mouse models

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, Monique Ramirez, Takako I. Jones, Peter L. Jones   +3 more
doaj   +1 more source

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

The Journal of Pathology, EarlyView.
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 more
wiley   +1 more source

Delivery 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 more
wiley   +1 more source

Electrical 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 more
wiley   +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, Marie Passet, Hugo Bergugnat, Loïc Vasseur, Thibaut Leguay, Françoise Huguet, Mathilde Hunault, Tom Sexton, Melha Benlebna, Julie Renard, Emmanuel Raffoux, Cédric Pastoret, Cathie Erb, Laureen Chat, Eric Delabesse, Stéphanie Gachet, Caroline Bonmati, Marie Balsat, Thorsten Braun, Audrey Bidet, Nicolas Duployez, Carlos Graux, Yves Chalandon, Philippe Rousselot, Patrice Chevallier, Jean Soulier, Véronique Lhéritier, Hervé Dombret, Nicolas Boissel, Emmanuelle Clappier   +29 more
wiley   +1 more source

386. Toxicology for DUX4-Targeted MicroRNAs [PDF]

Molecular Therapy, 2016
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder affecting 1 in 7500. Symptoms typically arise in young adulthood and most patients show clinical features before age 30. FSHD is characterized by progressive wasting and weakness of facial and shoulder-girdle muscles, though all skeletal muscle can be affected.
Lindsay M. Wallace, Jacqueline S. Domire, Danielle A. Griffin, Louise R. Rodino-Klapac, Scott Q. Harper   +4 more
openaire   +1 more source

A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy

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, Lauren Snider, Sujatha Jagannathan, Rabi Tawil, Silvère M van der Maarel, Stephen J Tapscott, Robert K Bradley   +6 more
doaj   +1 more source

Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD).

PLoS ONE, 2016
Facioscapulohumeral muscular dystrophy (FSHD) is typically an adult onset dominant myopathy. Epigenetic changes in the chromosome 4q35 region linked to both forms of FSHD lead to a relaxation of repression and increased somatic expression of DUX4-fl ...
Takako I Jones, Megan Parilla, Peter L Jones   +2 more
doaj   +1 more source