 Haploinsufficiency
"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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2011 | 0 | 2 | 2 | | 2012 | 0 | 1 | 1 | | 2013 | 1 | 3 | 4 | | 2015 | 0 | 2 | 2 | | 2017 | 0 | 1 | 1 | | 2018 | 0 | 1 | 1 | | 2019 | 2 | 5 | 7 | | 2020 | 0 | 4 | 4 | | 2021 | 3 | 2 | 5 | | 2022 | 0 | 1 | 1 | | 2023 | 1 | 1 | 2 | | 2024 | 2 | 1 | 3 |
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Below are the most recent publications written about "Haploinsufficiency" by people in Profiles.
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Eom TY, Schmitt JE, Li Y, Davenport CM, Steinberg J, Bonnan A, Alam S, Ryu YS, Paul L, Hansen BS, Khairy K, Pelletier S, Pruett-Miller SM, Roalf DR, Gur RE, Emanuel BS, McDonald-McGinn DM, Smith JN, Li C, Christie JM, Northcott PA, Zakharenko SS. Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome. Nat Commun. 2024 12 05; 15(1):10510.
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Voss K, Bartkowiak T, Sewell AE, Chi C, Landis MD, Schaefer S, Pua HH, Connelly JA, Irish JM, Rathmell JC, Kaviany S. Peripheral T Cell Development and Immunophenotyping of Twins with Heterozygous FOXN1 Mutations. Immunohorizons. 2024 07 01; 8(7):492-499.
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Ha T, Morgan A, Bartos MN, Beatty K, Cogn? B, Braun D, Gerber CB, Gaspar H, Kopps AM, Rieubland C, Hurst ACE, Amor DJ, Nizon M, Pasquier L, Pfundt R, Reis A, Siu VM, Tessarech M, Thompson ML, Vincent M, de Vries BBA, Walsh MB, Wechsler SB, Zweier C, Schnur RE, Guillen Sacoto MJ, Margot H, Masotto B, Palafoll MIV, Nawaz U, Voineagu I, Slavotinek A. De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay. Am J Med Genet A. 2024 07; 194(7):e63559.
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Schamiloglu S, Wu H, Zhou M, Kwan AC, Bender KJ. Dynamic Foraging Behavior Performance Is Not Affected by Scn2a Haploinsufficiency. eNeuro. 2023 Dec; 10(12).
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Wakatsuki R, Hatai Y, Okamoto K, Kaneko S, Shimbo A, Irabu H, Shimizu M, Kanegane H, Ono M. An infant with A20 haploinsufficiency presenting with periodic fever syndrome: A case report. Int J Rheum Dis. 2023 May; 26(5):973-976.
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Kim YK, Walters JA, Moss ND, Wells KL, Sheridan R, Miranda JG, Benninger RKP, Pyle LL, O'Brien RM, Sussel L, Davidson HW. Zinc transporter 8 haploinsufficiency protects against beta cell dysfunction in type 1 diabetes by increasing mitochondrial respiration. Mol Metab. 2022 12; 66:101632.
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Carvill GL, Matheny T, Hesselberth J, Demarest S. Haploinsufficiency, Dominant Negative, and Gain-of-Function Mechanisms in Epilepsy: Matching Therapeutic Approach to the Pathophysiology. Neurotherapeutics. 2021 07; 18(3):1500-1514.
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Rouhi L, Cheedipudi SM, Chen SN, Fan S, Lombardi R, Chen X, Coarfa C, Robertson MJ, Gurha P, Marian AJ. 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.
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Tiu GC, Kerr CH, Forester CM, Krishnarao PS, Rosenblatt HD, Raj N, Lantz TC, Zhulyn O, Bowen ME, Shokat L, Attardi LD, Ruggero D, Barna M. A p53-dependent translational program directs tissue-selective phenotypes in a model of ribosomopathies. Dev Cell. 2021 07 26; 56(14):2089-2102.e11.
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Constant BD, Dutmer CM, Arnold MA, Hall C, Abbott JK, de Zoeten EF. Cytotoxic T-Lymphocyte-Associated Antigen 4 Haploinsufficiency Mimics Difficult-to-Treat Inflammatory Bowel Disease. Clin Gastroenterol Hepatol. 2022 04; 20(4):e696-e702.
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