 Loss of Function Mutation
"Loss of Function Mutation" 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 mutation that causes a decrease in or elimination of a gene product's activity.
| Descriptor ID |
D000073658
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| MeSH Number(s) |
G05.365.590.538
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| Concept/Terms |
Leaky Mutation- Leaky Mutation
- Leaky Mutations
- Mutation, Leaky
- Mutations, Leaky
Null Mutation- Null Mutation
- Mutation, Null
- Mutations, Null
- Null Mutations
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Below are MeSH descriptors whose meaning is more general than "Loss of Function Mutation".
Below are MeSH descriptors whose meaning is more specific than "Loss of Function Mutation".
This graph shows the total number of publications written about "Loss of Function Mutation" by people in this website by year, and whether "Loss of Function Mutation" 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 |
|---|
| 2016 | 0 | 1 | 1 | | 2017 | 0 | 3 | 3 | | 2018 | 1 | 3 | 4 | | 2019 | 0 | 4 | 4 | | 2020 | 2 | 2 | 4 | | 2021 | 2 | 4 | 6 | | 2022 | 0 | 3 | 3 | | 2023 | 0 | 1 | 1 | | 2024 | 0 | 3 | 3 | | 2025 | 2 | 0 | 2 |
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Below are the most recent publications written about "Loss of Function Mutation" by people in Profiles.
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Thompson T, Gurfinkel D, Silveira L, Klamut N, Ferdinandsen K, Fu C, Ananth AL, Lane JB, Marsh ED, Neul JL, Percy AK, Benke TA. Medical Biases and Misconceptions Impact Diagnoses in Males With Loss of Function MECP2 Variants. Am J Med Genet A. 2025 Oct; 197(10):e64147.
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Schakel OF, Fritts RK, Zmuda AJ, Setayeshgar S, McKinlay JB. Microbial cross-feeding stabilized by segregation of a dependent mutant from its independent ancestor. ISME J. 2025 Jan 02; 19(1).
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Ryan CE, Fasaye GA, Gallanis AF, Gamble LA, McClelland PH, Duemler A, Samaranayake SG, Blakely AM, Drogan CM, Kingham K, Patel D, Rodgers-Fouche L, Siegel A, Kupfer SS, Ford JM, Chung DC, Dowty JG, Sampson J, Davis JL. Germline CDH1 Variants and Lifetime Cancer Risk. JAMA. 2024 09 03; 332(9):722-729.
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Binti S, Linder AG, Edeen PT, Fay DS. A conserved protein tyrosine phosphatase, PTPN-22, functions in diverse developmental processes in C. elegans. PLoS Genet. 2024 Aug; 20(8):e1011219.
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Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H, Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Nov; 26(11):101218.
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Huynh TN, Parker R. The PARN, TOE1, and USB1 RNA deadenylases and their roles in non-coding RNA regulation. J Biol Chem. 2023 09; 299(9):105139.
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K?ry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denomm?-Pichon AS, Cogn? B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, ?unap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Br?h?ret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, P?rez-Pe?a H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Mart?nez F, B?zieau S, Kahle KT, Isidor B. Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genet Med. 2022 09; 24(9):1941-1951.
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Binti S, Melinda RV, Joseph BB, Edeen PT, Miller SD, Fay DS. A life cycle alteration can correct molting defects in Caenorhabditis elegans. Dev Biol. 2022 03; 483:143-156.
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Gamble LA, Rossi A, Fasaye GA, Kesserwan C, Hernandez JM, Blakely AM, Davis JL. Association Between Hereditary Lobular Breast Cancer Due to CDH1 Variants and Gastric Cancer Risk. JAMA Surg. 2022 01 01; 157(1):18-22.
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Garrity M, Kavus H, Rojas-Vasquez M, Valenzuela I, Larson A, Reed S, Bellus G, Mignot C, Munnich A, Isidor B, Chung WK. Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1. Cold Spring Harb Mol Case Stud. 2021 08; 7(4).
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