"Haploinsufficiency" 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 copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.
| Descriptor ID |
D057895
|
| MeSH Number(s) |
G05.365.590.029.530.587 G05.380.350.500
|
| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Haploinsufficiency".
Below are MeSH descriptors whose meaning is more specific than "Haploinsufficiency".
This graph shows the total number of publications written about "Haploinsufficiency" by people in this website by year, and whether "Haploinsufficiency" was a major or minor topic of these publications.
View timeline visualization
| Year | Major Topic | Minor Topic | Total |
|---|
| 2010 | 1 | 1 | 2 |
| 2011 | 2 | 5 | 7 |
| 2012 | 3 | 6 | 9 |
| 2013 | 2 | 10 | 12 |
| 2014 | 2 | 10 | 12 |
| 2015 | 5 | 7 | 12 |
| 2016 | 3 | 7 | 10 |
| 2017 | 12 | 8 | 20 |
| 2018 | 13 | 6 | 19 |
| 2019 | 8 | 8 | 16 |
| 2020 | 3 | 3 | 6 |
| 2021 | 8 | 13 | 21 |
| 2022 | 0 | 2 | 2 |
| 2023 | 2 | 3 | 5 |
| 2024 | 5 | 6 | 11 |
| 2025 | 1 | 1 | 2 |
Below are the most recent publications written about "Haploinsufficiency" by people in Profiles.
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Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis. J Am Heart Assoc. 2025 Mar 04; 14(5):e036860.
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Vinculin haploinsufficiency impairs integrin-mediated costamere remodeling on stiffer microenvironments. J Mol Cell Cardiol. 2025 Mar; 200:1-10.
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Dysregulation of miRNA expression and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids. Mol Psychiatry. 2025 Apr; 30(4):1479-1496.
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PAX3 haploinsufficiency in Maine Coon cats with dominant blue eyes and hearing loss resembling the human Waardenburg syndrome. G3 (Bethesda). 2024 Sep 04; 14(9).
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LMNA-Related Dilated Cardiomyopathy: Single-Cell Transcriptomics during Patient-Derived iPSC Differentiation Support Cell Type and Lineage-Specific Dysregulation of Gene Expression and Development for Cardiomyocytes and Epicardium-Derived Cells with Lamin A/C Haploinsufficiency. Cells. 2024 09 03; 13(17).
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LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder. HGG Adv. 2024 Oct 10; 5(4):100345.
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A20 haploinsufficiency disturbs immune homeostasis and drives the transformation of lymphocytes with permissive antigen receptors. Sci Adv. 2024 Aug 23; 10(34):eadl3975.
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An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants. JCI Insight. 2024 Aug 01; 9(17).
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Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants. Am J Hum Genet. 2024 06 06; 111(6):1222-1238.
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Tcf4 dysfunction alters dorsal and ventral cortical neurogenesis in Pitt-Hopkins syndrome mouse model showing sexual dimorphism. Biochim Biophys Acta Mol Basis Dis. 2024 06; 1870(5):167178.