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 | 6 | 7 | 13 |
| 2019 | 8 | 10 | 18 |
| 2020 | 4 | 5 | 9 |
| 2021 | 3 | 5 | 8 |
| 2022 | 0 | 2 | 2 |
| 2023 | 0 | 2 | 2 |
| 2024 | 2 | 8 | 10 |
| 2025 | 6 | 2 | 8 |
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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 RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism. Brain. 2025 Aug 01; 148(8):2812-2826.
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NF2 loss-of-function and hypoxia drive radiation resistance in grade 2 meningiomas. J Natl Cancer Inst. 2025 Jun 01; 117(6):1175-1187.
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Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder. Int J Mol Sci. 2025 May 29; 26(11).
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Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder. Am J Hum Genet. 2025 Jun 05; 112(6):1388-1414.
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Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration. Nat Commun. 2025 Mar 12; 16(1):2479.
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Case report: A novel de novo germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Bacillus Calmette-Guerin osteomyelitis. Front Immunol. 2024; 15:1504816.
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ZIC1 is a context-dependent medulloblastoma driver in the rhombic lip. Nat Genet. 2025 Jan; 57(1):88-102.
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A Maternal Loss-of-Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report. Mol Genet Genomic Med. 2025 Jan; 13(1):e70051.
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MGA-related syndrome: A proposed novel disorder. HGG Adv. 2025 Jan 09; 6(1):100387.
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MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability. Am J Med Genet A. 2025 Jan; 197(1):e63868.