"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.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2017 | 2 | 2 | 4 |
| 2018 | 4 | 3 | 7 |
| 2019 | 1 | 0 | 1 |
| 2020 | 0 | 1 | 1 |
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Below are the most recent publications written about "Haploinsufficiency" by people in Profiles.
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Immune dysregulation and multisystem inflammatory syndrome in children (MIS-C) in individuals with haploinsufficiency of SOCS1. J Allergy Clin Immunol. 2020 11; 146(5):1194-1200.e1.
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Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency. Immunol Lett. 2019 10; 214:52-54.
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Aspergillosis, eosinophilic esophagitis, and allergic rhinitis in signal transducer and activator of transcription 3 haploinsufficiency. J Allergy Clin Immunol. 2018 09; 142(3):993-997.e3.
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Large deletion in 6q associated to A20 haploinsufficiency and thoracoabdominal heterotaxy. Ann Rheum Dis. 2018 11; 77(11):1697-1698.
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Back from the brink of obscurity. Elife. 2018 04 18; 7.
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TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6. Clin Immunol. 2018 06; 191:44-51.
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IRF4 haploinsufficiency in a family with Whipple's disease. Elife. 2018 03 14; 7.
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Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome). J Med Genet. 2018 04; 55(4):269-277.
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RELA haploinsufficiency in CD4 lymphoproliferative disease with autoimmune cytopenias. J Allergy Clin Immunol. 2018 04; 141(4):1507-1510.e8.
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LPS-Induced ex vivo Cytokine Production is Not Augmented in Patients with Von Hippel-Lindau Disease. Scand J Immunol. 2017 09; 86(3):179-180.