Loss of Function Mutation
"Loss of Function Mutation" 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 mutation that causes a decrease in or elimination of a gene product's activity.
| Descriptor ID |
D000073658
|
| MeSH Number(s) |
G05.365.590.538
|
| Concept/Terms |
Leaky Mutation- Leaky Mutation
- Leaky Mutations
- Mutation, Leaky
- Mutations, Leaky
Null Mutation- Null Mutation
- Mutation, Null
- Mutations, Null
- Null Mutations
|
Below are MeSH descriptors whose meaning is more general than "Loss of Function Mutation".
Below are MeSH descriptors whose meaning is more specific than "Loss of Function Mutation".
This graph shows the total number of publications written about "Loss of Function Mutation" by people in this website by year, and whether "Loss of Function Mutation" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2017 | 3 | 4 | 7 |
| 2018 | 6 | 10 | 16 |
| 2019 | 1 | 0 | 1 |
| 2020 | 2 | 0 | 2 |
| 2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Loss of Function Mutation" by people in Profiles.
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Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19. J Clin Invest. 2021 07 15; 131(14).
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Interferon system deficiencies exacerbating severe pandemic virus infections. Trends Microbiol. 2021 11; 29(11):973-982.
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Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science. 2020 10 23; 370(6515).
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Presence of Genetic Variants Among Young Men With Severe COVID-19. JAMA. 2020 08 18; 324(7):663-673.
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Characterization of Kcnk3-Mutated Rat, a Novel Model of Pulmonary Hypertension. Circ Res. 2019 09 13; 125(7):678-695.
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Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease. BMC Med Genet. 2018 12 27; 19(1):219.
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HCV-Associated Liver Fibrosis and HSD17B13. N Engl J Med. 2018 11 08; 379(19):1875-1876.
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TET2 deficiency leads to stem cell factor-dependent clonal expansion of dysfunctional erythroid progenitors. Blood. 2018 11 29; 132(22):2406-2417.
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Evaluation of novel Parkinson's disease candidate genes in the Chinese population. Neurobiol Aging. 2019 02; 74:235.e1-235.e4.
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Accurate classification of BRCA1 variants with saturation genome editing. Nature. 2018 10; 562(7726):217-222.