 Homozygote
"Homozygote" 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.
An individual in which both alleles at a given locus are identical.
| Descriptor ID |
D006720
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| MeSH Number(s) |
G05.380.554
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Homozygote".
Below are MeSH descriptors whose meaning is more specific than "Homozygote".
This graph shows the total number of publications written about "Homozygote" by people in this website by year, and whether "Homozygote" 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 |
|---|
| 1996 | 0 | 2 | 2 | | 1997 | 0 | 1 | 1 | | 1998 | 0 | 1 | 1 | | 1999 | 0 | 1 | 1 | | 2003 | 0 | 1 | 1 | | 2007 | 0 | 1 | 1 | | 2009 | 0 | 2 | 2 | | 2010 | 1 | 1 | 2 | | 2013 | 1 | 0 | 1 | | 2015 | 2 | 2 | 4 | | 2017 | 0 | 2 | 2 | | 2022 | 0 | 1 | 1 |
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Below are the most recent publications written about "Homozygote" by people in Profiles.
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Seth A, Rivera A, Chahdi A, Choi IS, Medina-Martinez O, Lewis S, O'Neill M, Ridgeway A, Moore J, Jorgez C, Lamb DJ. Gene dosage changes in KCTD13 result in penile and testicular anomalies via diminished androgen receptor function. FASEB J. 2022 11; 36(11):e22567.
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Lamba JK, Chauhan L, Shin M, Loken MR, Pollard JA, Wang YC, Ries RE, Aplenc R, Hirsch BA, Raimondi SC, Walter RB, Bernstein ID, Gamis AS, Alonzo TA, Meshinchi S. CD33 Splicing Polymorphism Determines Gemtuzumab Ozogamicin Response in De Novo Acute Myeloid Leukemia: Report From Randomized Phase III Children's Oncology Group Trial AAML0531. J Clin Oncol. 2017 Aug 10; 35(23):2674-2682.
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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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Tsai SL, Green J, Metherell LA, Curtis F, Fernandez B, Healey A, Curtis J. Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected. Horm Res Paediatr. 2016; 85(1):35-42.
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Wainwright CE, Elborn JS, Ramsey BW, Marigowda G, Huang X, Cipolli M, Colombo C, Davies JC, De Boeck K, Flume PA, Konstan MW, McColley SA, McCoy K, McKone EF, Munck A, Ratjen F, Rowe SM, Waltz D, Boyle MP. Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. N Engl J Med. 2015 07 16; 373(3):220-31.
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Thiffault I, Saunders C, Jenkins J, Raje N, Canty K, Sharma M, Grote L, Welsh HI, Farrow E, Twist G, Miller N, Zwick D, Zellmer L, Kingsmore SF, Safina NP. A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes. BMC Med Genet. 2015 May 07; 16:31.
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Ramasamy R, Bakircioglu ME, Cengiz C, Karaca E, Scovell J, Jhangiani SN, Akdemir ZC, Bainbridge M, Yu Y, Huff C, Gibbs RA, Lupski JR, Lamb DJ. Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia. Fertil Steril. 2015 Aug; 104(2):286-91.
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Le Pichon JB, Yu S, Kibiryeva N, Graf WD, Bittel DC. Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome. Eur J Hum Genet. 2013 Oct; 21(10):1093-9.
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Shoar Z, Rezvani G, De Luca F. Type 1 diabetes mellitus in a patient with homozygous sickle cell anemia. J Pediatr Endocrinol Metab. 2013; 26(11-12):1205-7.
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Rio Frio T, Lavoie J, Hamel N, Geyer FC, Kushner YB, Novak DJ, Wark L, Capelli C, Reis-Filho JS, Mai S, Pastinen T, Tischkowitz MD, Marcus VA, Foulkes WD. Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia. N Engl J Med. 2010 Dec 30; 363(27):2628-37.
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