Assessments of disease progression and response to therapies in Duchenne muscular dystrophy (DMD) patients remain challenging. Current DMD patient assessments include complex physical tests and invasive procedures such as muscle biopsies, which are not suitable for young children. Defining alternative, less invasive and objective outcome measures to assess disease progression and response to therapy will aid drug development and clinical trials in DMD. In this review we highlight advances in development of non-invasive blood circulating biomarkers as a means to assess disease progression and response to therapies in DMD.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820909 | PMC |
| http://dx.doi.org/10.1186/s12014-016-9109-x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Development of a prognostic gene signature and exploration of P4HA1 in the modulation of cuproptosis in colorectal cancer.
Sci Rep
December 2024
School of Pharmacy, Jiangxi Medical College, Nanchang University, Nanchang, 330006, People's Republic of China.
Cuproptosis, a newly identified form of cell death, has drawn increasing attention for its association with various cancers, though its specific role in colorectal cancer (CRC) remains unclear. In this study, transcriptomic and clinical data from CRC patients available in the TCGA database were analyzed to investigate the impact of cuproptosis. Differentially expressed genes linked to cuproptosis were identified using Weighted Gene Co-Expression Network Analysis (WGCNA).
View Article and Find Full Text PDFFactors affecting fatigue progression in multiple sclerosis patients.
Sci Rep
December 2024
Nehme and Therese Tohme Multiple Sclerosis Center, American University of Beirut Medical Center, Riad El-Solh, PO Box 11-0236, 1107 2020, Beirut, Lebanon.
Fatigue is one of the most prevalent and disabling symptoms among patients with MS, but there is limited research investigating the longitudinal determinants of fatigue progression. This study aims to identify the sociodemographic, behavioral and clinical characteristics, and therapeutic regimens that are correlated with worsening fatigue over time in patients diagnosed with MS. This is a retrospective chart review of 483 patients.
View Article and Find Full Text PDFAI allows pre-screening of FGFR3 mutational status using routine histology slides of muscle-invasive bladder cancer.
Nat Commun
December 2024
Institute of Pathology, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Pathogenic activating mutations in the fibroblast growth factor receptor 3 (FGFR3) drive disease maintenance and progression in urothelial cancer. 10-15% of muscle-invasive and metastatic urothelial cancer (MIBC/mUC) are FGFR3-mutant. Selective targeting of FGFR3 hotspot mutations with tyrosine kinase inhibitors (e.
View Article and Find Full Text PDFGATD3A-deficiency-induced mitochondrial dysfunction facilitates senescence of fibroblast-like synoviocytes and osteoarthritis progression.
Nat Commun
December 2024
Department of Orthopaedics, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Accumulating evidence indicates that cellular senescence is closely associated with osteoarthritis. However, there is limited research on the mechanisms underlying fibroblast-like synoviocyte senescence and its impact on osteoarthritis progression. Here, we elucidate a positive correlation between fibroblast-like synoviocyte senescence and osteoarthritis progression and reveal that GATD3A deficiency induces fibroblast-like synoviocyte senescence.
View Article and Find Full Text PDFAlleviating batch effects in cell type deconvolution with SCCAF-D.
Nat Commun
December 2024
GMU-GIBH Joint School of Life Sciences, The Guangdong-Hong Kong-Macao Joint Laboratory for Cell Fate Regulation and Diseases, Guangzhou Laboratory, Guangzhou Medical University, Guangzhou, China.
Cell type deconvolution methods can impute cell proportions from bulk transcriptomics data, revealing changes in disease progression or organ development. But benchmarking studies often use simulated bulk data from the same source as the reference, which limits its application scenarios. This study examines batch effects in deconvolution and introduces SCCAF-D, a computational workflow that ensures a Pearson Correlation Coefficient above 0.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!