 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 |
|---|
| 2007 | 1 | 0 | 1 | | 2008 | 1 | 0 | 1 | | 2015 | 0 | 2 | 2 | | 2017 | 1 | 0 | 1 | | 2021 | 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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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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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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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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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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Farrow EG, Davis SI, Ward LM, Summers LJ, Bubbear JS, Keen R, Stamp TC, Baker LR, Bonewald LF, White KE. Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets. Bone. 2009 Feb; 44(2):287-94.
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Farrow EG, Davis SI, Ward LM, White KE. The role of DMP1 in autosomal recessive hypophosphatemic rickets. J Musculoskelet Neuronal Interact. 2007 Oct-Dec; 7(4):310-2.
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Talebizadeh Z, Kelley PM, Askew JW, Beisel KW, Smith SD. Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss. Hum Mutat. 1999; 14(6):493-501.
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Forrest D, Hanebuth E, Smeyne RJ, Everds N, Stewart CL, Wehner JM, Curran T. Recessive resistance to thyroid hormone in mice lacking thyroid hormone receptor beta: evidence for tissue-specific modulation of receptor function. EMBO J. 1996 Jun 17; 15(12):3006-15.
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Br?sen K, de Morais SM, Meyer UA, Goldstein JA. A multifamily study on the relationship between CYP2C19 genotype and s-mephenytoin oxidation phenotype. Pharmacogenetics. 1995 Oct; 5(5):312-7.
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