Facioscapulohumeral Muscular Dystrophy (FSHD) Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

The upper extremity functional index (UEFI): Italian validation in patients with Facioscapulohumeral muscular dystrophy
CONCLUSIONS: Overall, the UEFI-IT is an appropriate, valid, and reliable outcome measure for Italian-speaking FSHD patients.PMID:37578105 | DOI:10.1080/09638288.2023.2245749 (Source: Disability and Rehabilitation)
Source: Disability and Rehabilitation - August 14, 2023 Category: Rehabilitation Authors: Andrea Lizio Lucia Greco Maria Beretta Maria Chiara Frisoni Stefano Becchiati Jacopo Casiraghi Valeria Ada Sansone Elena Carraro Source Type: research

GSE233832 Molecular and phenotypic changes in FLExDUX4 mice
Contributors : Kelly Murphy ; Aiping Zhang ; Adam J Bittel ; Yi-Wen ChenSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusWe investigated differences in the quadriceps transcriptome of 13-week-old heterozygous B6(Cg)-Gt(ROSA)26Sortm1.1(DUX4*)Plj/J (FLExDUX4) mouse model of Facioscapulohumeral Muscular Dystrophy (FSHD) and their wild type (WT) littermates to determine if there were characterize the structural/functional adaptations to aerobic exercise training and their molecular foundations using RNA sequencing (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - July 31, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research

Prevalence of Neuromuscular Diseases in Young South Korean Males; A Korean Military Manpower Administration Data-Based Study
CONCLUSIONS: The 10-year PRs of hereditary polyneuropathies, HD, MG, and inherited muscle diseases in young South Korean males have been reported. These data could be valuable to understanding each neuromuscular disease in the young male population of South Korea.PMID:37455505 | DOI:10.3988/jcn.2022.0261 (Source: Journal of Clinical Neurology)
Source: Journal of Clinical Neurology - July 17, 2023 Category: Neurology Authors: Kyoung-Eun Kim Eun Jin Kim Kwangdong Kim Jaechan Park Chul Jung Jae-Hyun Yun Kihun Son Source Type: research

Facioscapulohumeral muscular dystrophy is associated with altered myoblast proteome dynamics
Mol Cell Proteomics. 2023 Jun 21:100605. doi: 10.1016/j.mcpro.2023.100605. Online ahead of print.ABSTRACTProteomic studies in facioscapulohumeral muscular dystrophy (FSHD) could offer new insight to disease mechanisms underpinned by post-transcriptional processes. We used stable isotope (deuterium oxide; D2O) labelling and peptide mass spectrometry to investigate the abundance and turnover rates of proteins in cultured muscle cells from 2 individuals affected by FSHD and their unaffected siblings (UASb). We measured the abundance of 4420 proteins and the turnover rate of 2324 proteins in each (n = 4) myoblast sample. FSHD ...
Source: Molecular and Cellular Proteomics : MCP - June 23, 2023 Category: Molecular Biology Authors: Yusuke Nishimura Adam J Bittel Connor A Stead Yi-Wen Chen Jatin G Burniston Source Type: research

Lean tissue mass measurements by dual-energy X-ray absorptiometry and associations with strength and functional outcome measures in facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy (FSHD), one of the most common muscular dystrophies in adulthood, is heterogeneous in its presentation and progression of muscle weakness. FSHD type 1 is due to a contraction of the D4Z4 repeats at the 4q35 chromosome. The disease manifestations are variable and mostly slow in progression, necessitating the identification and validation of measures that can inform treatment efficacy over a time period that is feasible for the conduct of a clinical trial. An imaging biomarker is important because it can provide an objective endpoint not subject to the learning effect that can affect am...
Source: Neuromuscular Disorders - June 21, 2023 Category: Neurology Authors: Leo H. Wang, Doris G. Leung, Kathryn R. Wagner, Sarah J. Lowry, Michael P. McDermott, Katy Eichinger, Kiley Higgs, Michaela Walker, Leann Lewis, William B. Martens, Karlien Mul, Valeria A. Sansone, Perry Shieh, Bakri Elsheikh, Samantha LoRusso, Russell J. Source Type: research

In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype
Nucleic Acids Res. 2023 Jun 19:gkad523. doi: 10.1093/nar/gkad523. Online ahead of print.ABSTRACTMany genetic syndromes are linked to mutations in genes encoding factors that guide chromatin organization. Among them, several distinct rare genetic diseases are linked to mutations in SMCHD1 that encodes the structural maintenance of chromosomes flexible hinge domain containing 1 chromatin-associated factor. In humans, its function as well as the impact of its mutations remains poorly defined. To fill this gap, we determined the episignature associated with heterozygous SMCHD1 variants in primary cells and cell lineages derive...
Source: Cell Research - June 19, 2023 Category: Cytology Authors: Camille Laberthonni ère M égane Delourme Rapha ël Chevalier Camille Dion Benjamin Ganne David Hirst Leslie Caron Pierre Perrin Jos é Adélaïde Max Chaffanet Shifeng Xue Karine Nguyen Bruno Reversade J érôme Déjardin Ana ïs Baudot J érôme D Robi Source Type: research

Compromised nonsense-mediated RNA decay results in truncated RNA-binding protein production upon DUX4 expression
Cell Rep. 2023 Jun 13;42(6):112642. doi: 10.1016/j.celrep.2023.112642. Online ahead of print.ABSTRACTNonsense-mediated RNA decay (NMD) degrades transcripts carrying premature termination codons. NMD is thought to prevent the synthesis of toxic truncated proteins. However, whether loss of NMD results in widespread production of truncated proteins is unclear. A human genetic disease, facioscapulohumeral muscular dystrophy (FSHD), features acute inhibition of NMD upon expression of the disease-causing transcription factor, DUX4. Using a cell-based model of FSHD, we show production of truncated proteins from physiological NMD ...
Source: Cancer Control - June 14, 2023 Category: Cancer & Oncology Authors: Amy E Campbell Michael C Dyle Roberto Albanese Tyler Matheny Kavitha Sudheendran Michael A Cort ázar Thomas Forman Rui Fu Austin E Gillen Marvin H Caruthers Stephen N Floor Lorenzo Calviello Sujatha Jagannathan Source Type: research