"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 |
|---|
| 2016 | 1 | 0 | 1 |
| 2018 | 2 | 1 | 3 |
| 2019 | 3 | 1 | 4 |
| 2020 | 1 | 3 | 4 |
| 2021 | 3 | 0 | 3 |
| 2022 | 0 | 1 | 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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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. Genet Med. 2022 10; 24(10):2079-2090.
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Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability. Eur J Hum Genet. 2021 11; 29(11):1663-1668.
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C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation. J Clin Invest. 2021 06 15; 131(12).
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Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. Am J Hum Genet. 2021 06 03; 108(6):1069-1082.
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QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum. Clin Genet. 2021 01; 99(1):199-207.
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Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles. Brain. 2020 08 01; 143(8):2406-2420.
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SETDB1 is required for intestinal epithelial differentiation and the prevention of intestinal inflammation. Gut. 2021 03; 70(3):485-498.
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Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies. Hum Genet. 2020 Apr; 139(4):483-498.
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Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects. Nat Commun. 2019 07 04; 10(1):2966.
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Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer. Breast Cancer Res. 2019 04 29; 21(1):55.
MeSH information
