ArticleNeuromuscular disorders : NMD2015
Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.
Article in Neuromuscular disorders : NMD, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
35 citing papers in PubMed, 62 citations in OpenAlex.
- VCP at the crossroads of UPS and autophagy in cancer.Genes & diseases · 2027Review
- Genetics of myositis - distinct backgrounds of subtypes.Journal of human genetics · 2025Review
- Seeding-competent TDP-43 persists in human patient and mouse muscle.Science translational medicine · 2024Article
- Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.Disease models & mechanisms · 2024Review
- Seeding competent TDP-43 persists in human patient and mouse muscle.bioRxiv : the preprint server for biology · 2024Article
- Mitochondrial defects in sporadic inclusion body myositis-causes and consequences.Frontiers in cell and developmental biology · 2024Review
- Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.Neurology. Genetics · 2023Article
- Inclusion body myositis: from genetics to clinical trials.Journal of neurology · 2023Review
- VCP-related myopathy: a case series and a review of literature.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2023Review
- Clinical significance of anti-NT5c1A autoantibody in Korean patients with inflammatory myopathies.PloS one · 2023Article
- Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis.Journal of neurology · 2022Article
- Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis.Annals of neurology · 2022Article
- Valosin Containing Protein (VCP): A Multistep Regulator of Autophagy.International journal of molecular sciences · 2022Review
- The Genetics of Autoimmune Myositis.Frontiers in immunology · 2022Review
- Neuronal VCP loss of function recapitulates FTLD-TDP pathology.Cell reports · 2021Article
- The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.International journal of molecular sciences · 2021Review
- Clinical utility of anti-cytosolic 5'-nucleotidase 1A antibody in idiopathic inflammatory myopathies.Annals of clinical and translational neurology · 2021Article
- A mutation update for the FLNC gene in myopathies and cardiomyopathies.Human mutation · 2020Review
- Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.Frontiers in neurology · 2020Article
- Desmin forms toxic, seeding-competent amyloid aggregates that persist in muscle fibers.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
Sporadic inclusion body myositis (sIBM) has clinical, pathologic and pathomechanistic overlap with some inherited muscle and neurodegenerative disorders. In this study, DNA from 79 patients with sIBM was collected and the sequencing of 38 genes associated with hereditary inclusion body myopathy (IBM), myofibrillar myopathy, Emery-Dreifuss muscular dystrophy, distal myopathy, amyotrophic lateral sclerosis and dementia along with C9orf72 hexanucleotide repeat analysis was performed. No C9orf72 repeat expansions were identified, but; 27 rare (minor allele frequency <1%) missense coding variants in several other genes were identified. One patient carried a p.R95C missense mutation in VCP and another carried a previously reported p.I27V missense mutation in VCP. Mutations in VCP cause IBM associated with Paget's disease of the bone (PDB) and fronto-temporal dementia (IBMPFD). Neither patient had a family history of weakness or manifested other symptoms reported with VCP mutations such as PDB or dementia. In vitro analysis of these VCP variants found that they both disrupted autophagy similar to other pathogenic mutations. Although no clear genetic etiology has been implicated in sIBM pathogenesis, our study suggests that genetic evaluation in sIBM may be clinically meaningful and lend insight into its pathomechanism.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.