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 | 6 | 9 | 15 |
| 2020 | 3 | 5 | 8 |
| 2021 | 3 | 5 | 8 |
| 2022 | 0 | 1 | 1 |
| 2023 | 0 | 2 | 2 |
| 2024 | 2 | 8 | 10 |
| 2025 | 3 | 2 | 5 |
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Below are the most recent publications written about "Loss of Function Mutation" by people in Profiles.
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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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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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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.
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Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome. Am J Med Genet A. 2025 Jan; 197(1):e63845.
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Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Nov; 26(11):101218.
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Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release. Sci Adv. 2024 Jul 12; 10(28):eadk5462.