"Dysferlin" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A membrane protein that contains multiple C2 DOMAINS. It is highly expressed in skeletal muscle and functions as a calcium ion sensor in SYNAPTIC VESICLE-PLASMA MEMBRANE fusion, as well as in SARCOLEMMA repair following mechanical stress. Mutations in the dysferlin (DYSF) gene are associated with several hereditary MUSCULAR DYSTROPHIES.
| Descriptor ID |
D000073939
|
| MeSH Number(s) |
D12.776.210.500.248 D12.776.543.225
|
| Concept/Terms |
Dysferlin- Dysferlin
- Fer-1-like Protein 1
- Fer 1 like Protein 1
|
Below are MeSH descriptors whose meaning is more general than "Dysferlin".
Below are MeSH descriptors whose meaning is more specific than "Dysferlin".
This graph shows the total number of publications written about "Dysferlin" by people in this website by year, and whether "Dysferlin" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2010 | 0 | 2 | 2 |
| 2017 | 0 | 1 | 1 |
| 2020 | 1 | 0 | 1 |
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Below are the most recent publications written about "Dysferlin" by people in Profiles.
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The impact of exome sequencing on the diagnostic yield of muscular dystrophies in consanguineous families. Eur J Med Genet. 2020 Apr; 63(4):103845.
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Genetic polymorphisms associated with pancreatic cancer survival: a genome-wide association study. Int J Cancer. 2017 08 15; 141(4):678-686.
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Novel diagnostic features of dysferlinopathies. Muscle Nerve. 2010 Jul; 42(1):14-21.
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Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy. J Neuropathol Exp Neurol. 2010 Jun; 69(6):643-53.