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Article
Open AccessCitral in lemon myrtle, lemongrass, litsea, and melissa essential oils suppress the growth and invasion of breast cancer cells
Although cancer therapy suppresses recurrence and prolongs life, it may be accompanied by strong side effects; thus, there is a strong demand for the development effective treatments with fewer side effects. C...
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Article
Characteristics of the muscle involvement along the disease progression in a large cohort of oculopharyngodistal myopathy compared to oculopharyngeal muscular dystrophy
Oculopharyngodistal myopathy (OPDM) is an autosomal dominant myopathy clinically characterized by distal muscle weakness. Even though the identification of four causative genes, LRP12, GIPC1, NOTCH2NLC and RILPL1
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Article
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4
DnaJ homolog, subfamily B, member 4, a member of the heat shock protein 40 chaperones encoded by DNAJB4, is highly expressed in myofibers. We identified a heterozygous c.270 T > A (p.F90L) variant in DNAJB4 in a ...
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Article
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy
Dystrophinopathy is caused by alterations in DMD. Approximately 1% of patients remain genetically undiagnosed, because intronic variations are not detected by standard methods. Here, we combined laboratory and in...
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Article
Open AccessMultidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy
GNE myopathy is a distal myopathy caused by biallelic variants in GNE, which encodes a protein involved in sialic acid biosynthesis. Compound heterozygosity of the second most frequent variant among Japanese GNE ...
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Article
Open AccessIntranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy
Oculopharyngodistal myopathy (OPDM) and oculopharyngeal muscular dystrophy (OPMD) are similar and even believed to be indistinguishable in terms of their myopathological features. To address the diagnostic gap...
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Article
Open AccessSimultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by asymmetric muscle wasting and weakness. FSHD can be subdivided into two types: FSHD1, caused by contrac...
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Article
Open AccessA recurrent homozygous ACTN2 variant associated with core myopathy
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Blessings of Medicinal Plants—History and Prospects
Medicinal and aromatic plants have sustained the life of human and animals, alleviated ailments, improved quality of and aromatic plants as medicines was unthinkably long and the use based on vast empirical ...
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Article
Open AccessCGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations
Oculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized by progressive distal limb weakness, ptosis, ophthalmoplegia, bulbar muscle weakness and rimmed vacuoles on muscle biopsy. ...
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Article
Open AccessExon skip** induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy
Duchenne muscular dystrophy (DMD) is caused by a nonsense or frameshift mutation in the DMD gene, while its milder form, Becker muscular dystrophy (BMD) is caused by an in-frame deletion/duplication or a missense...
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Article
Open AccessA novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy
LMNA-associated congenital muscular dystrophy (L-CMD) is a severe form of muscle laminopathy. LMNA encodes lamin A, which an intermediate filament protein that attaches to the inner membrane of the nuclear envelo...
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Article
Open AccessTwo novel VCP missense variants identified in Japanese patients with multisystem proteinopathy
VCP mutations were first associated with inclusion body myopathy with Paget’s disease of bone and frontotemporal dementia (IBMPFD) but was later associated with amyotrophic lateral sclerosis and Charcot–Marie–Too...
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Article
Open AccessOdd skipped-related 1 identifies a population of embryonic fibro-adipogenic progenitors regulating myogenesis during limb development
Fibro-adipogenic progenitors (FAPs) are an interstitial cell population in adult skeletal muscle that support muscle regeneration. During development, interstitial muscle connective tissue (MCT) cells support ...
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Article
Open AccessBmal1 regulates inflammatory responses in macrophages by modulating enhancer RNA transcription
Bmal1 (encoded by Arntl gene) is a core circadian clock gene that regulates various genes involved in circadian rhythm. Although Bmal1 is expressed rhythmically in macrophages, the role of Bmal1 in the regulation...
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Article
Effective uric acid-lowering treatment for hypertensive patients with hyperuricemia
Uric acid (UA) has been associated with hypertension, renal disease and cardiovascular disease. The aim of the present study was to compare the UA-lowering effects of a standard dose of the UA synthesis inhibi...
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Article
Salt intake and eating habits of school-aged children
Salt restriction is important for the prevention and treatment of hypertension; however, salt consumption is still high in Japan. Improvements in dietary habits, including salt reduction in childhood, may cont...
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Article
Differentiation of pluripotent stem cells to muscle fiber to model Duchenne muscular dystrophy
A protocol for differentiating mouse and human pluripotent stem cells into muscle.
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Article
ABL tyrosine kinase inhibitor-induced pulmonary alveolar proteinosis in chronic myeloid leukemia
Pulmonary alveolar proteinosis (PAP) is a rare disease characterized by the accumulation of eosinophilic periodic acid Schiff-positive material in the intra-alveolar and bronchiolar spaces. Tyrosine kinase inh...
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Article
Open Accessβ2 adrenergic agonist attenuates house dust mite-induced allergic airway inflammation through dendritic cells
Long-acting β2 adrenergic agonists (LABAs) are commonly used combined with inhaled corticosteroids (ICS) to treat asthmatic patients. Previous reports suggest that LABAs have an anti-inflammatory effect in bro...
