Transcriptional response to cardiac injury in the zebrafish: systematic identification of genes with highly concordant activity across in vivo models [PDF]
, 2014 Background: Zebrafish is a clinically-relevant model of heart regeneration. Unlike mammals, it has a remarkable heart repair capacity after injury, and promises novel translational applications. Amputation and cryoinjury models are key research tools for
Azuaje, Francisco +9 more
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Biology Open, 2019 Nemaline myopathy is a rare neuromuscular disorder that affects 1 in 50,000 live births, with prevalence as high as 1 in 20,000 in certain populations.
Boyang Qiu +4 more
doaj +1 more source
Specific fluorescent labeling of chicken myofibril Z-line proteins catalyzed by guinea pig liver transglutaminase [PDF]
, 1979 Guinea pig liver transglutaminase has been found to catalyze the covalent incorporation of dansylcadaverine into chicken skeletal muscle myofibril proteins.
Gard, David L., Lazarides, Elias
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Nature Communications, 2020 Nebulin-based nemaline myopathy is a heterogenous disease with unclear pathological mechanisms. Here, the authors generate a mouse model that mimics the most common genetic cause of the disease and demonstrate that muscle weakness in this model is ...
Johan Lindqvist +15 more
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Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies [PDF]
, 2017 Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant hyperthermia susceptibility (MHS) and central core disease (CCD).
Appleton, Richard +21 more
core
Nemaline myopathy: A report of four cases
Annals of Indian Academy of Neurology, 2007 Nemaline myopathies are a group of genetically determined (autosomal dominant/recessive) congenital myopathies characterized by the formation of nemaline rods within muscle fibers.
Deepti A +3 more
doaj
Clinical and Pathological Features of Childhood-Onset Nemaline Myopathy: A Report of Four Cases
Case Reports in Medicine, 2012 We examined whether immunological abnormalities can be found in the specimens of four childhood-onset nemaline myopathy (NM) patients without autoimmune diseases. Pathological examination revealed that nemaline rods were found in all specimens.
Chao Jiang, Jianping Wang, Haidong Lu
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Sugammadex on a nemaline rod myopathy patient [PDF]
, 2013 Beatriz Marchese Silva +2 more
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Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8 [PDF]
, 2022 Haiming Yuan +7 more
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Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms [PDF]
, 2004 Biljana Ilkovski
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