 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 | 2 | 2 | 4 | | 2022 | 0 | 1 | 1 | | 2023 | 1 | 0 | 1 | | 2024 | 0 | 1 | 1 |
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Below are the most recent publications written about "Haploinsufficiency" by people in Profiles.
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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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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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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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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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Radio FC, Pang K, Ciolfi A, Levy MA, Hern?ndez-Garc?a A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM, Faivre L, Banka S, Wang T, Eichler EE, Priolo M, Dallapiccola B, Vissers LELM, Sadikovic B, Scott DA, Holder JL, Tartaglia M. 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.
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Schultz-Rogers L, Masuho I, Pinto E Vairo F, Schmitz CT, Schwab TL, Clark KJ, Gunderson L, Pichurin PN, Wierenga K, Martemyanov KA, Klee EW. Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder. Mol Genet Genomic Med. 2020 11; 8(11):e1477.
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Davis EE, Balasubramanian R, Kupchinsky ZA, Keefe DL, Plummer L, Khan K, Meczekalski B, Heath KE, Lopez-Gonzalez V, Ballesta-Martinez MJ, Margabanthu G, Price S, Greening J, Brauner R, Valenzuela I, Cusco I, Fernandez-Alvarez P, Wierman ME, Li T, Lage K, Barroso PS, Chan YM, Crowley WF, Katsanis N. TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci. Hum Mol Genet. 2020 08 11; 29(14):2435-2450.
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Klofas LK, Short BP, Snow JP, Sinnaeve J, Rushing GV, Westlake G, Weinstein W, Ihrie RA, Ess KC, Carson RP. DEPDC5 haploinsufficiency drives increased mTORC1 signaling and abnormal morphology in human iPSC-derived cortical neurons. Neurobiol Dis. 2020 09; 143:104975.
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