The FSHD jigsaw: are we placing the tiles in the right position?
The FSHD jigsaw: are we placing the tiles in the right posit... : Current Opinion in Neurology
The FSHD jigsaw: are we placing the tiles in the right position? : Current Opinion in Neurology …
The FSHD jigsaw: are we placing the tiles in the right position? : Current Opinion in Neurology …
Challenges and Considerations of Preclinical Development for iPSC-Based Myogenic Cell Therapy
C Sun, C Serra, BH Kalicharan, J Harding, M Rao - Cells, 2024 - mdpi.com
Cell therapies derived from induced pluripotent stem cells (iPSCs) offer a promising avenue
in the field of regenerative medicine due to iPSCs' expandability, immune compatibility, and …
in the field of regenerative medicine due to iPSCs' expandability, immune compatibility, and …
The endosomal escape vehicle platform enhances delivery of oligonucleotides in preclinical models of neuromuscular disorders
X Li, M Kheirabadi, PG Dougherty, KJ Kamer… - … Therapy-Nucleic Acids, 2023 - cell.com
Biological therapeutic agents are highly targeted and potent but limited in their ability to
reach intracellular targets. These limitations often necessitate high therapeutic doses and …
reach intracellular targets. These limitations often necessitate high therapeutic doses and …
Single-cell spatial transcriptomics reveals a dystrophic trajectory following a developmental bifurcation of myoblast cell fates in facioscapulohumeral muscular …
Facioscapulohumeral muscular dystrophy (FSHD) is linked to abnormal derepression of the
transcription activator DUX4. This effect is localized to a low percentage of cells, requiring …
transcription activator DUX4. This effect is localized to a low percentage of cells, requiring …
The FSHD muscle–blood biomarker: a circulating transcriptomic biomarker for clinical severity in facioscapulohumeral muscular dystrophy
CRS Banerji, A Greco, LAB Joosten… - Brain …, 2023 - academic.oup.com
Facioscapulohumeral muscular dystrophy (FSHD) is a prevalent, incurable skeletal
myopathy. Clinical trials for FSHD are hindered by heterogeneous biomarkers poorly …
myopathy. Clinical trials for FSHD are hindered by heterogeneous biomarkers poorly …
Contraction or sequence variant of an intergenic repeat-Alu element leads to inherited thyroid disease
A Cortese, E Vegezzi, H Houlden - Nature Genetics, 2024 - nature.com
Contraction or sequence variant of an intergenic repeat-Alu element leads to inherited thyroid
disease | Nature Genetics Skip to main content Thank you for visiting nature.com. You are …
disease | Nature Genetics Skip to main content Thank you for visiting nature.com. You are …
[PDF][PDF] DUX4 expression in cancer induces a metastable early embryonic totipotent program
AA Smith, Y Nip, SR Bennett, DC Hamm… - Cell reports, 2023 - cell.com
The transcription factor DUX4 regulates a portion of the zygotic gene activation (ZGA)
program in the early embryo. Many cancers express DUX4 but it is unknown whether this …
program in the early embryo. Many cancers express DUX4 but it is unknown whether this …
Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression
CJ Wong, SD Friedman, L Snider… - Human Molecular …, 2024 - academic.oup.com
Identifying the aberrant expression of DUX4 in skeletal muscle as the cause of
facioscapulohumeral dystrophy (FSHD) has led to rational therapeutic development and …
facioscapulohumeral dystrophy (FSHD) has led to rational therapeutic development and …
[HTML][HTML] Abstracts of the 2023 Padua Days of Muscle and Mobility Medicine (2023Pdm3) to be held March 29-April 1 at the Galileian Academy of Padua and at the …
S Zampieri, MV Narici, P Gargiulo… - European Journal of …, 2023 - ncbi.nlm.nih.gov
At the end of the 2022 Padua Days of Muscle and Mobility Medicine (Pdm3) the next year's
meeting was scheduled from 29 March to 1 April 2023. Despite the worsening evolution of …
meeting was scheduled from 29 March to 1 April 2023. Despite the worsening evolution of …
[PDF][PDF] Engineered FSHD mutations results in D4Z4 heterochromatin disruption and feedforward DUX4 network activation
X Kong, NV Nguyen, Y Li, JS Sakr, K Williams, S Sharifi… - iScience, 2024 - cell.com
Facioscapulohumeral dystrophy (FSHD) is linked to contraction of D4Z4 repeats on
chromosome 4q with SMCHD1 mutations acting as a disease modifier. D4Z4 …
chromosome 4q with SMCHD1 mutations acting as a disease modifier. D4Z4 …