"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
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| 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.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2012 | 0 | 1 | 1 |
| 2013 | 0 | 3 | 3 |
| 2014 | 1 | 0 | 1 |
| 2016 | 0 | 1 | 1 |
| 2020 | 1 | 0 | 1 |
| 2021 | 0 | 1 | 1 |
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Below are the most recent publications written about "Haploinsufficiency" by people in Profiles.
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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Am J Hum Genet. 2021 06 03; 108(6):1138-1150.
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MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome-like Behaviors in Mice. Biol Psychiatry. 2020 09 15; 88(6):488-499.
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PERK Is a Haploinsufficient Tumor Suppressor: Gene Dose Determines Tumor-Suppressive Versus Tumor Promoting Properties of PERK in Melanoma. PLoS Genet. 2016 Dec; 12(12):e1006518.
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Neuregulin-1 overexpression and Trp53 haploinsufficiency cooperatively promote de novo malignant peripheral nerve sheath tumor pathogenesis. Acta Neuropathol. 2014 Apr; 127(4):573-91.
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Angiotensin II-dependent TGF-? signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. J Clin Invest. 2014 Jan; 124(1):448-60.
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Hyperactive transforming growth factor-?1 signaling potentiates skeletal defects in a neurofibromatosis type 1 mouse model. J Bone Miner Res. 2013 Dec; 28(12):2476-89.
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A Pkd1-Fbn1 genetic interaction implicates TGF-? signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 2014 Jan; 25(1):81-91.
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Maladaptive matrix remodeling and regional biomechanical dysfunction in a mouse model of aortic valve disease. Matrix Biol. 2012 Apr; 31(3):197-205.