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 | 1 | 0 | 1 |
| 2018 | 1 | 1 | 2 |
| 2019 | 3 | 5 | 8 |
| 2020 | 2 | 4 | 6 |
| 2021 | 3 | 2 | 5 |
| 2023 | 1 | 2 | 3 |
| 2024 | 1 | 2 | 3 |
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Below are the most recent publications written about "Loss of Function Mutation" by people in Profiles.
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Scaled and efficient derivation of loss-of-function alleles in risk genes for neurodevelopmental and psychiatric disorders in human iPSCs. Stem Cell Reports. 2024 Oct 08; 19(10):1489-1504.
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Germline CDH1 Variants and Lifetime Cancer Risk. JAMA. 2024 09 03; 332(9):722-729.
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Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2. PLoS Genet. 2024 Aug; 20(8):e1011375.
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Base-editing mutagenesis maps alleles to tune human T cell functions. Nature. 2024 Jan; 625(7996):805-812.
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Detrimental effects of PCSK9 loss-of-function in the pediatric host response to sepsis are mediated through independent influence on Angiopoietin-1. Crit Care. 2023 06 26; 27(1):250.
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Relating pathogenic loss-of-function mutations in humans to their evolutionary fitness costs. Elife. 2023 01 17; 12.
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CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer. Sci Rep. 2021 10 08; 11(1):20059.
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Impaired cytoplasmic domain interactions cause co-assembly defect and loss of function in the p.Glu293Lys KNCJ2 variant isolated from an Andersen-Tawil syndrome patient. Cardiovasc Res. 2021 07 07; 117(8):1923-1934.
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PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism. Nature. 2021 06; 594(7862):271-276.
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Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk. Cancer Res. 2021 04 15; 81(8):1954-1964.