"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 |
|
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 | 5 | 7 |
| 2012 | 5 | 9 | 14 |
| 2013 | 0 | 2 | 2 |
| 2014 | 4 | 2 | 6 |
| 2015 | 0 | 4 | 4 |
| 2016 | 4 | 2 | 6 |
| 2017 | 5 | 4 | 9 |
| 2018 | 2 | 7 | 9 |
| 2019 | 2 | 7 | 9 |
| 2020 | 2 | 4 | 6 |
| 2021 | 6 | 9 | 15 |
| 2022 | 0 | 4 | 4 |
| 2023 | 4 | 1 | 5 |
| 2024 | 2 | 6 | 8 |
| 2025 | 4 | 2 | 6 |
| 2026 | 2 | 2 | 4 |
To return to the timeline,
click here.
Below are the most recent publications written about "Haploinsufficiency" by people in Profiles.
-
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome. Am J Hum Genet. 2024 08 08; 111(8):1605-1625.
-
Haploinsufficiency of CYP8B1 associates with increased insulin sensitivity in humans. J Clin Invest. 2022 11 01; 132(21).
-
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.
-
Haploinsufficiency of Tmem43 in cardiac myocytes activates the DNA damage response pathway leading to a late-onset senescence-associated pro-fibrotic cardiomyopathy. Cardiovasc Res. 2021 09 28; 117(11):2377-2394.
-
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. Genet Med. 2021 10; 23(10):1901-1911.
-
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet. 2021 03 04; 108(3):502-516.
-
Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy. Elife. 2020 02 19; 9.
-
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. Hum Mutat. 2020 05; 41(5):921-925.
-
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med. 2020 03; 22(3):524-537.
-
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genet Med. 2019 12; 21(12):2755-2764.