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.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2017 | 1 | 0 | 1 |
| 2018 | 1 | 1 | 2 |
| 2019 | 3 | 4 | 7 |
| 2020 | 2 | 4 | 6 |
| 2021 | 3 | 2 | 5 |
| 2023 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Loss of Function Mutation" by people in Profiles.
-
Relating pathogenic loss-of-function mutations in humans to their evolutionary fitness costs. Elife. 2023 01 17; 12.
-
CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer. Sci Rep. 2021 10 08; 11(1):20059.
-
Impaired cytoplasmic domain interactions cause co-assembly defect and loss of function in the p.Glu293Lys KNCJ2 variant isolated from an Andersen-Tawil syndrome patient. Cardiovasc Res. 2021 07 07; 117(8):1923-1934.
-
PIK3CA and CCM mutations fuel cavernomas through a cancer-like mechanism. Nature. 2021 06; 594(7862):271-276.
-
Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk. Cancer Res. 2021 04 15; 81(8):1954-1964.
-
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature. 2021 02; 590(7845):290-299.
-
Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants. Am J Med Genet A. 2021 03; 185(3):889-893.
-
Genotype-phenotype correlation at codon 1740 of SETD2. Am J Med Genet A. 2020 09; 182(9):2037-2048.
-
FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease. Nature. 2020 08; 584(7822):619-623.
-
Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia. Proc Natl Acad Sci U S A. 2020 03 17; 117(11):6023-6034.