"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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click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2012 | 1 | 2 | 3 |
| 2013 | 0 | 1 | 1 |
| 2014 | 0 | 1 | 1 |
| 2016 | 0 | 1 | 1 |
| 2017 | 1 | 1 | 2 |
| 2018 | 0 | 2 | 2 |
| 2019 | 1 | 0 | 1 |
| 2020 | 0 | 1 | 1 |
| 2022 | 0 | 2 | 2 |
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Below are the most recent publications written about "Haploinsufficiency" by people in Profiles.
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ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model. Am J Hum Genet. 2022 08 04; 109(8):1436-1457.
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Genetic barcoding systematically compares genes in del(5q) MDS and reveals a central role for CSNK1A1 in clonal expansion. Blood Adv. 2022 03 22; 6(6):1780-1796.
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Nine newly identified individuals refine the phenotype associated with MYT1L mutations. Am J Med Genet A. 2020 05; 182(5):1021-1031.
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SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal?phenotypes. Kidney Int. 2019 06; 95(6):1494-1504.
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De Novo Mutations Affecting the Catalytic Ca Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. Am J Hum Genet. 2019 01 03; 104(1):139-156.
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BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain. 2018 08 01; 141(8):2299-2311.
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Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura. Br J Dermatol. 2017 12; 177(6):e340-e343.
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WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. Am J Hum Genet. 2017 Jul 06; 101(1):139-148.
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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. Am J Hum Genet. 2016 09 01; 99(3):711-719.
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De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet. 2015 Jan; 134(1):97-109.
MeSH information
