Mutations in the skeletal muscle α-actin gene (ACTA1) cause a range of congenital myopathies characterised by muscle weakness and specific skeletal muscle structural …
The primary muscle disorders are a diverse group of diseases caused by various defective structural proteins, abnormal signaling molecules, enzymes and proteins involved in …
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 …
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 …
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 …
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 …
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 …
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 …
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 …