"C9orf72 Protein" 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 widely-expressed protein of approximately 400 to 500 amino acids. Its N-terminal region (DENN domain) interacts with RAB GTP-BINDING PROTEINS and may regulate AUTOPHAGY, as well as PROTEIN TRANSPORT to ENDOSOMES. Expansion of the GGGGCC hexanucleotide repeat in the first intron of the C9orf72 gene is associated with FRONTOTEMPORAL DEMENTIA with AMYOTROPHIC LATERAL SCLEROSIS (FTDALS1).
| Descriptor ID |
D000073885
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| MeSH Number(s) |
D12.776.141
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "C9orf72 Protein".
Below are MeSH descriptors whose meaning is more specific than "C9orf72 Protein".
This graph shows the total number of publications written about "C9orf72 Protein" by people in this website by year, and whether "C9orf72 Protein" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2016 | 0 | 1 | 1 |
| 2017 | 5 | 1 | 6 |
| 2018 | 1 | 1 | 2 |
| 2019 | 1 | 1 | 2 |
| 2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "C9orf72 Protein" by people in Profiles.
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C9orf72 Intermediate Repeats Confer Genetic Risk for Severe COVID-19 Pneumonia Independently of Age. Int J Mol Sci. 2021 06 29; 22(13).
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Sleep research in 2020: COVID-19-related sleep disorders. Lancet Neurol. 2021 01; 20(1):15-17.
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The brain's traffic problems. Science. 2019 Jan 18; 363(6424):221-223.
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Repeated repeat problems: Combinatorial effect of C9orf72-derived dipeptide repeat proteins. Int J Biol Macromol. 2019 Apr 15; 127:136-145.
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ALS and CHARGE syndrome: a clinical and genetic study. Acta Neurol Belg. 2018 Dec; 118(4):629-635.
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Hippocampal Subfield Volumetry: Differential Pattern of Atrophy in Different Forms of Genetic Frontotemporal Dementia. J Alzheimers Dis. 2018; 64(2):497-504.
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Genetics: The hexanucleotide hex. Nature. 2017 10 18; 550(7676):S106-S108.
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Intermediate C9orf72 alleles in neurological disorders: does size really matter? J Med Genet. 2017 09; 54(9):591-597.
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Structural and functional brain signatures of C9orf72 in motor neuron disease. Neurobiol Aging. 2017 09; 57:206-219.
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Elevated Levels of Selenium Species in Cerebrospinal Fluid of Amyotrophic Lateral Sclerosis Patients with Disease-Associated Gene Mutations. Neurodegener Dis. 2017; 17(4-5):171-180.