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 | 0 | 1 | 1 |
| 2018 | 6 | 7 | 13 |
| 2019 | 8 | 10 | 18 |
| 2020 | 4 | 5 | 9 |
| 2021 | 3 | 5 | 8 |
| 2022 | 0 | 3 | 3 |
| 2023 | 0 | 1 | 1 |
| 2024 | 2 | 8 | 10 |
| 2025 | 6 | 2 | 8 |
| 2026 | 3 | 1 | 4 |
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Below are the most recent publications written about "Loss of Function Mutation" by people in Profiles.
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ZIC1 is a context-dependent medulloblastoma driver in the rhombic lip. Nat Genet. 2025 01; 57(1):88-102.
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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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Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia. Mol Genet Genomic Med. 2020 03; 8(3):e1130.
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Antibiotic treatment ameliorates Ten-eleven translocation 2 (TET2) loss-of-function associated hematological malignancies. Cancer Lett. 2019 12 28; 467:1-8.
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Variants identified in PTK7 associated with neural tube defects. Mol Genet Genomic Med. 2019 04; 7(4):e00584.
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Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. Hum Mutat. 2019 03; 40(3):267-280.
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Threshold for neural tube defect risk by accumulated singleton loss-of-function variants. Cell Res. 2018 10; 28(10):1039-1041.
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Comparative analysis of single-stranded DNA donors to generate conditional null mouse alleles. BMC Biol. 2018 Jun 21; 16(1):69.
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De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2018 06 07; 102(6):1195-1203.
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Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types. Cell Rep. 2018 04 03; 23(1):282-296.e4.