"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.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2010 | 2 | 0 | 2 |
| 2011 | 2 | 4 | 6 |
| 2012 | 5 | 10 | 15 |
| 2013 | 0 | 2 | 2 |
| 2014 | 4 | 2 | 6 |
| 2015 | 0 | 3 | 3 |
| 2016 | 4 | 3 | 7 |
| 2017 | 5 | 3 | 8 |
| 2018 | 1 | 7 | 8 |
| 2019 | 2 | 7 | 9 |
| 2020 | 3 | 4 | 7 |
| 2021 | 7 | 9 | 16 |
| 2022 | 0 | 5 | 5 |
| 2023 | 4 | 1 | 5 |
| 2024 | 2 | 5 | 7 |
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Below are the most recent publications written about "Haploinsufficiency" by people in Profiles.
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Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene. N Engl J Med. 2024 10 24; 391(16):1511-1518.
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Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes. J Med Genet. 2024 Oct 23; 61(11):1062-1067.
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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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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome. Am J Hum Genet. 2024 Aug 08; 111(8):1605-1625.
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Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants. Am J Med Genet A. 2024 Nov; 194(11):e63713.
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Age-specific induction of mutant p53 drives clonal hematopoiesis and acute myeloid leukemia in adult mice. Cell Rep Med. 2024 May 21; 5(5):101558.
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Haploinsufficiency of phosphodiesterase 10A activates PI3K/AKT signaling independent of PTEN to induce an aggressive glioma phenotype. Genes Dev. 2024 04 17; 38(5-6):273-288.
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SMARCA4 is a haploinsufficient B cell lymphoma tumor suppressor that fine-tunes centrocyte cell fate decisions. Cancer Cell. 2024 Apr 08; 42(4):605-622.e11.
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CRISPR Activation Reverses Haploinsufficiency and Functional Deficits Caused by TTN Truncation Variants. Circulation. 2024 Apr 16; 149(16):1285-1297.
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RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation. Am J Hum Genet. 2023 12 07; 110(12):2103-2111.