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
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MeSH Number(s) |
G05.365.590.538
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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 |
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2017 | 0 | 1 | 1 |
2018 | 6 | 8 | 14 |
2019 | 4 | 13 | 17 |
2020 | 2 | 7 | 9 |
2021 | 4 | 9 | 13 |
2022 | 0 | 2 | 2 |
2023 | 0 | 3 | 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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Autoantibodies against type I IFNs in humans with alternative NF-?B pathway deficiency. Nature. 2023 Nov; 623(7988):803-813.
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Identification of USP9X as a leukemia susceptibility gene. Blood Adv. 2023 08 22; 7(16):4563-4575.
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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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Cooperation between KDM6B overexpression and TET2 deficiency in the pathogenesis of chronic myelomonocytic leukemia. Leukemia. 2022 08; 36(8):2097-2107.
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De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies. Brain. 2022 06 03; 145(5):1684-1697.
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High-impact rare genetic variants in severe schizophrenia. Proc Natl Acad Sci U S A. 2021 12 21; 118(51).
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The immunogenomic landscape of resected intrahepatic cholangiocarcinoma. Hepatology. 2022 02; 75(2):297-308.
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Identification of mutations that cooperate with defects in B cell transcription factors to initiate leukemia. Oncogene. 2021 10; 40(43):6166-6179.
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Loss of Smad4 promotes aggressive lung cancer metastasis by de-repression of PAK3 via miRNA regulation. Nat Commun. 2021 08 11; 12(1):4853.
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IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease. Hum Genet. 2021 Sep; 140(9):1299-1312.