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Peter L Jones

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Articles 65
Citations 2303
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Recent Articles
1.
Himeda C, Jones T, Jones P
Hum Gene Ther . 2024 Jul; 35(15-16):543-554. PMID: 38970421
Adeno-associated virus-mediated gene therapies for certain muscle disorders require regulatory cassettes that provide high-level, striated muscle-specific activity. However, cardiotoxicity has emerged as a serious concern in clinical trials for Duchenne...
2.
Nunes A, Ramirez M, Garcia-Collazo E, Jones T, Jones P
Hum Mol Genet . 2024 Feb; 33(10):872-883. PMID: 38340007
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive myopathy caused by the aberrant increased expression of the DUX4 retrogene in skeletal muscle cells. The DUX4 gene encodes a transcription factor that...
3.
Wong C, Friedman S, Snider L, Bennett S, Jones T, Jones P, et al.
Hum Mol Genet . 2024 Jan; 33(8):698-708. PMID: 38268317
Identifying the aberrant expression of DUX4 in skeletal muscle as the cause of facioscapulohumeral dystrophy (FSHD) has led to rational therapeutic development and clinical trials. Several studies support the use...
4.
Wong C, Friedman S, Snider L, Bennett S, Jones T, Jones P, et al.
bioRxiv . 2023 Mar; PMID: 36865168
Identifying the aberrant expression of DUX4 in skeletal muscle as the cause of facioscapulohumeral dystrophy (FSHD) has led to rational therapeutic development and clinical trials. Several studies support the use...
5.
Nip Y, Bennett S, Smith A, Jones T, Jones P, Tapscott S
Hum Mol Genet . 2023 Feb; 32(11):1864-1874. PMID: 36728804
Human DUX4 and its mouse ortholog Dux are normally expressed in the early embryo-the 4-cell or 2-cell cleavage stage embryo, respectively-and activate a portion of the first wave of zygotic...
6.
Himeda C, Jones P
J Pers Med . 2022 Jun; 12(6). PMID: 35743650
Facioscapulohumeral muscular dystrophy (FSHD) is arguably one of the most challenging genetic diseases to understand and treat. The disease is caused by epigenetic dysregulation of a macrosatellite repeat, either by...
7.
Mohassel P, Chang N, Inoue K, Delaney A, Hu Y, Donkervoort S, et al.
Neurology . 2022 Feb; 98(13):e1384-e1396. PMID: 35121673
Background And Objectives: Facioscapulohumeral muscular dystrophy type 2 (FSHD2) and arhinia are 2 distinct disorders caused by pathogenic variants in the same gene: . The mechanism underlying this phenotypic divergence...
8.
Gros M, Nunes A, Daoudlarian D, Pini J, Martinuzzi E, Barbosa S, et al.
J Neuromuscul Dis . 2021 Aug; 9(1):83-93. PMID: 34459413
Background: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common myopathies in adults, displaying a progressive, frequently asymmetric involvement of a typical muscles' pattern. FSHD is associated with epigenetic...
9.
Gould T, Jones T, Jones P
Diagnostics (Basel) . 2021 Aug; 11(8). PMID: 34441403
The true prevalence of facioscapulohumeral muscular dystrophy (FSHD) is unknown due to difficulties with accurate clinical evaluation and the complexities of current genetic diagnostics. Interestingly, all forms of FSHD are...
10.
Nunes A, Ramirez M, Jones T, Jones P
Dis Model Mech . 2021 Aug; 14(8). PMID: 34338285
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...