"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
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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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click here.
Year | Major Topic | Minor Topic | Total |
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2010 | 2 | 0 | 2 |
2011 | 3 | 6 | 9 |
2012 | 5 | 11 | 16 |
2013 | 2 | 3 | 5 |
2014 | 4 | 2 | 6 |
2015 | 1 | 5 | 6 |
2016 | 4 | 4 | 8 |
2017 | 5 | 3 | 8 |
2018 | 1 | 7 | 8 |
2019 | 1 | 8 | 9 |
2020 | 3 | 5 | 8 |
2021 | 7 | 9 | 16 |
2022 | 0 | 5 | 5 |
2023 | 4 | 1 | 5 |
2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Haploinsufficiency" by people in Profiles.
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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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RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation. Am J Hum Genet. 2023 Dec 07; 110(12):2103-2111.
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Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency. PLoS Genet. 2023 Oct; 19(10):e1010952.
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Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency. J Allergy Clin Immunol. 2024 01; 153(1):216-229.
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SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 05 04; 110(5):790-808.
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Phenotypic Variability of SOCS1 Haploinsufficiency. J Clin Immunol. 2023 07; 43(5):902-906.
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NFKB2 haploinsufficiency identified via screening for IFN-a2 autoantibodies in children and adolescents hospitalized with SARS-CoV-2-related complications. J Allergy Clin Immunol. 2023 04; 151(4):926-930.e2.
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Haploinsufficiency of CYP8B1 associates with increased insulin sensitivity in humans. J Clin Invest. 2022 11 01; 132(21).
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Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models. Am J Hum Genet. 2022 11 03; 109(11):2049-2067.
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Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome. Hum Mol Genet. 2022 04 22; 31(8):1325-1335.