[HTML][HTML] Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies

M Ganassi, F Muntoni, PS Zammit - Experimental Cell Research, 2022 - Elsevier
Muscular dystrophies and congenital myopathies arise from specific genetic mutations
causing skeletal muscle weakness that reduces quality of life. Muscle health relies on …

Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms

KJ Nowak, G Ravenscroft, NG Laing - Acta neuropathologica, 2013 - Springer
Mutations in the skeletal muscle α-actin gene (ACTA1) cause a range of congenital
myopathies characterised by muscle weakness and specific skeletal muscle structural …

Distinctive patterns of microRNA expression in primary muscular disorders

I Eisenberg, A Eran, I Nishino… - Proceedings of the …, 2007 - National Acad Sciences
The primary muscle disorders are a diverse group of diseases caused by various defective
structural proteins, abnormal signaling molecules, enzymes and proteins involved in …

Distance correlation application to gene co-expression network analysis

J Hou, X Ye, W Feng, Q Zhang, Y Han, Y Liu, Y Li… - BMC …, 2022 - Springer
Background To construct gene co-expression networks, it is necessary to evaluate the
correlation between different gene expression profiles. However, commonly used correlation …

Nebulin regulates thin filament length, contractility, and Z‐disk structure in vivo

CC Witt, C Burkart, D Labeit, M McNabb, Y Wu… - The EMBO …, 2006 - embopress.org
The precise assembly of the highly organized filament systems found in muscle is critically
important for its function. It has been hypothesized that nebulin, a giant filamentous protein …

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

N Ranu, J Laitila, HF Dugdale, J Mariano… - Acta neuropathologica …, 2022 - Springer
Nemaline myopathy (NM) is one of the most common non-dystrophic genetic muscle
disorders. NM is often associated with mutations in the NEB gene. Even though the exact …

Evidence by molecular profiling for a placental origin of infantile hemangioma

CM Barnés, S Huang, A Kaipainen… - Proceedings of the …, 2005 - National Acad Sciences
The origin of the pathogenic endothelial cells in common infantile hemangioma is unknown.
We show here that the transcriptomes of human placenta and infantile hemangioma are …

Plasma cells in muscle in inclusion body myositis and polymyositis

SA Greenberg, EM Bradshaw, JL Pinkus, GS Pinkus… - Neurology, 2005 - AAN Enterprises
Background: Previous immunohistochemical studies of muscle from patients with inclusion
body myositis and polymyositis found many more T cells than B cells, suggesting a role for …

Expression profiling and identification of novel genes involved in myogenic differentiation

KK Tomczak, VD Marinescu, MF Ramoni… - The FASEB …, 2004 - Wiley Online Library
Skeletal muscle differentiation is a complex, highly coordinated process that relies on
precise temporal gene expression patterns. To better understand this cascade of …

Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles

G Tasca, M Pescatori, M Monforte, M Mirabella… - PloS one, 2012 - journals.plos.org
Background Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common
muscular dystrophies and is characterized by a non-conventional genetic mechanism …