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 |
|---|
| 2018 | 0 | 1 | 1 |
| 2020 | 1 | 1 | 2 |
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Below are the most recent publications written about "Loss of Function Mutation" by people in Profiles.
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A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease. PLoS Genet. 2020 04; 16(4):e1008629.
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Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. Am J Hum Genet. 2020 05 07; 106(5):623-631.
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FGFR1 underlies obesity-associated progression of estrogen receptor-positive breast cancer after estrogen deprivation. JCI Insight. 2018 07 26; 3(14).