Genes, Recessive
"Genes, Recessive" 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.
Genes that influence the PHENOTYPE only in the homozygous state.
| Descriptor ID |
D005808
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| MeSH Number(s) |
G05.360.340.024.340.415 G05.420.325
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| Concept/Terms |
Conditions, Recessive Genetic- Conditions, Recessive Genetic
- Condition, Recessive Genetic
- Genetic Condition, Recessive
- Recessive Genetic Condition
- Recessive Genetic Conditions
- Genetic Conditions, Recessive
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Below are MeSH descriptors whose meaning is more general than "Genes, Recessive".
Below are MeSH descriptors whose meaning is more specific than "Genes, Recessive".
This graph shows the total number of publications written about "Genes, Recessive" by people in this website by year, and whether "Genes, Recessive" 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 |
|---|
| 2006 | 0 | 2 | 2 | | 2007 | 1 | 0 | 1 | | 2008 | 1 | 0 | 1 | | 2009 | 0 | 1 | 1 | | 2014 | 0 | 1 | 1 | | 2015 | 1 | 3 | 4 | | 2017 | 1 | 0 | 1 | | 2019 | 0 | 1 | 1 | | 2021 | 0 | 1 | 1 | | 2024 | 0 | 1 | 1 |
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Below are the most recent publications written about "Genes, Recessive" by people in Profiles.
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Cali E, Quirin T, Rocca C, Efthymiou S, Riva A, Marafi D, Zaki MS, Suri M, Dominguez R, Elbendary HM, Alavi S, Abdel-Hamid MS, Morsy H, Mau-Them FT, Nizon M, Tesner P, Ryba L, Zafar F, Rana N, Saadi NW, Firoozfar Z, Gencpinar P, Unay B, Ustun C, Bruel AL, Coubes C, Stefanich J, Sezer O, Agolini E, Novelli A, Vasco G, Lettori D, Milh M, Villard L, Zeidler S, Opperman H, Strehlow V, Issa MY, El Khassab H, Chand P, Ibrahim S, Rashidi-Nezhad A, Miryounesi M, Larki P, Morrison J, Cristian I, Thiffault I, Bertsch NL, Noh GJ, Pappas J, Moran E, Marinakis NM, Traeger-Synodinos J, Hosseini S, Abbaszadegan MR, Caumes R, Vissers LELM, Neshatdoust M, Montazer Zohour M, El Fahime E, Canavati C, Kamal L, Kanaan M, Askander O, Voinova V, Levchenko O, Haider S, Halbach SS, Elias Maia R, Mansoor S, Jain V, Tawde S, Challa VSR, Gowda VK, Srinivasan VM, Victor LA, Pinero-Banos B, Hague J, ElAwady HA, Maria de Miranda Henriques-Souza A, Cheema HA, Anjum MN, Idkaidak S, Alqarajeh F, Atawneh O, Mor-Shaked H, Harel T, Zifarelli G, Bauer P, Kok F, Kitajima JP, Monteiro F, Josahkian J, Lesca G, Chatron N, Ville D, Murphy D, Neul JL, Mullegama SV, Begtrup A, Herman I, Mitani T, Posey JE, Tay CG, Javed I, Carr L, Kanani F, Beecroft F, Hane L, Abdelkreem E, Macek M, Bispo L, Elmaksoud MA, Hashemi-Gorji F, Pehlivan D, Amor DJ, Jamra RA, Chung WK, Ghayoor Karimiani E, Campeau PM, Alkuraya FS, Pagnamenta AT, Gleeson JG, Lupski JR, Striano P, Moreno-De-Luca A, Lafontaine DLJ, Houlden H, Maroofian R. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genet Med. 2025 Apr; 27(4):101251.
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Kishnani PS, Del Angel G, Zhou S, Rush ET. Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa. Mol Genet Metab. 2021 05; 133(1):113-121.
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Sommerville EW, Zhou XL, Ol?hov? M, Jenkins J, Euro L, Konovalova S, Hilander T, Pyle A, He L, Habeebu S, Saunders C, Kelsey A, Morris AAM, McFarland R, Suomalainen A, Gorman GS, Wang ED, Thiffault I, Tyynismaa H, Taylor RW. Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy. Hum Mol Genet. 2019 01 15; 28(2):258-268.
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Kernohan KD, Dyment DA, Pupavac M, Cramer Z, McBride A, Bernard G, Straub I, Tetreault M, Hartley T, Huang L, Sell E, Majewski J, Rosenblatt DS, Shoubridge E, Mhanni A, Myers T, Proud V, Vergano S, Spangler B, Farrow E, Kussman J, Safina N, Saunders C, Boycott KM, Thiffault I. Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene. Hum Mutat. 2017 05; 38(5):511-516.
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Guimier A, Gabriel GC, Bajolle F, Tsang M, Liu H, Noll A, Schwartz M, El Malti R, Smith LD, Klena NT, Jimenez G, Miller NA, Oufadem M, Moreau de Bellaing A, Yagi H, Saunders CJ, Baker CN, Di Filippo S, Peterson KA, Thiffault I, Bole-Feysot C, Cooley LD, Farrow EG, Masson C, Schoen P, Deleuze JF, Nitschk? P, Lyonnet S, de Pontual L, Murray SA, Bonnet D, Kingsmore SF, Amiel J, Bouvagnet P, Lo CW, Gordon CT. MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. Nat Genet. 2015 Nov; 47(11):1260-3.
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Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavall?e-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, M?t? A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates JR, Coulombe B, Bernard G. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nat Commun. 2015 Jul 07; 6:7623.
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Gutierrez M, Thiffault I, Guerrero K, Martos-Moreno G?, Tran LT, Benko W, van der Knaap MS, van Spaendonk RM, Wolf NI, Bernard G. Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy. Orphanet J Rare Dis. 2015 Jun 05; 10:69.
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Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I, Christensen M, Atherton A, Farrow E, Miller N, Kingsmore SF, Ostergaard E. CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet. 2015 Feb 05; 96(2):258-65.
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Schwartzentruber J, Buhas D, Majewski J, Sasarman F, Papillon-Cavanagh S, Thiffault I, Thiffaut I, Sheldon KM, Massicotte C, Patry L, Simon M, Zare AS, McKernan KJ, Michaud J, Boles RG, Deal CL, Desilets V, Shoubridge EA, Samuels ME. Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. Hum Mutat. 2014 Nov; 35(11):1285-9.
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Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med. 2011 Jan 12; 3(65):65ra4.
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