 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 |
|---|
| 1991 | 0 | 2 | 2 | | 1992 | 0 | 1 | 1 | | 1993 | 0 | 1 | 1 | | 1994 | 0 | 1 | 1 | | 1995 | 0 | 2 | 2 | | 1996 | 0 | 2 | 2 | | 1997 | 0 | 1 | 1 | | 1998 | 0 | 2 | 2 | | 1999 | 0 | 7 | 7 | | 2000 | 0 | 3 | 3 | | 2001 | 0 | 5 | 5 | | 2003 | 0 | 8 | 8 | | 2004 | 0 | 2 | 2 | | 2005 | 1 | 3 | 4 | | 2006 | 0 | 4 | 4 | | 2007 | 0 | 3 | 3 | | 2008 | 3 | 3 | 6 | | 2009 | 0 | 5 | 5 | | 2010 | 0 | 6 | 6 | | 2011 | 1 | 7 | 8 | | 2012 | 2 | 7 | 9 | | 2013 | 1 | 7 | 8 | | 2014 | 1 | 7 | 8 | | 2015 | 3 | 7 | 10 | | 2016 | 0 | 6 | 6 | | 2017 | 0 | 14 | 14 | | 2018 | 3 | 8 | 11 | | 2019 | 0 | 3 | 3 | | 2020 | 1 | 1 | 2 |
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Below are the most recent publications written about "Homozygote" by people in Profiles.
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Kuemmerle-Deschner JB, Welzel T, Hoertnagel K, Tsiflikas I, Hospach A, Liu X, Schlipf S, Hansmann S, Samba SD, Griesinger A, Benseler SM, Weber AN. New variant in the IL1RN-gene (DIRA) associated with late-onset, CRMO-like presentation. Rheumatology (Oxford). 2020 Nov 01; 59(11):3259-3263.
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Ng K, Titus EW, Lieve KV, Roston TM, Mazzanti A, Deiter FH, Denjoy I, Ingles J, Till J, Robyns T, Connors SP, Steinberg C, Abrams DJ, Pang B, Scheinman MM, Bos JM, Duffett SA, van der Werf C, Maltret A, Green MS, Rutberg J, Balaji S, Cadrin-Tourigny J, Orland KM, Knight LM, Brateng C, Wu J, Tang AS, Skanes AC, Manlucu J, Healey JS, January CT, Krahn AD, Collins KK, Maginot KR, Fischbach P, Etheridge SP, Eckhardt LL, Hamilton RM, Ackerman MJ, Noguer FRI, Semsarian C, Jura N, Leenhardt A, Gollob MH, Priori SG, Sanatani S, Wilde AAM, Deo RC, Roberts JD. An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia. Circulation. 2020 09 08; 142(10):932-947.
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Dias CM, Punetha J, Zheng C, Mazaheri N, Rad A, Efthymiou S, Petersen A, Dehghani M, Pehlivan D, Partlow JN, Posey JE, Salpietro V, Gezdirici A, Malamiri RA, Al Menabawy NM, Selim LA, Vahidi Mehrjardi MY, Banu S, Polla DL, Yang E, Rezazadeh Varaghchi J, Mitani T, van Beusekom E, Najafi M, Sedaghat A, Keller-Ramey J, Durham L, Coban-Akdemir Z, Karaca E, Orlova V, Schaeken LLM, Sherafat A, Jhangiani SN, Stanley V, Shariati G, Galehdari H, Gleeson JG, Walsh CA, Lupski JR, Seiradake E, Houlden H, van Bokhoven H, Maroofian R. Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2019 11 07; 105(5):1048-1056.
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Ghosh SG, Wang L, Breuss MW, Green JD, Stanley V, Yang X, Ross D, Traynor BJ, Alhashem AM, Azam M, Selim L, Bastaki L, Elbastawisy HI, Temtamy S, Zaki M, Gleeson JG. Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly. J Med Genet. 2020 04; 57(4):274-282.
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Fernandez IZ, Baxter RM, Garcia-Perez JE, Vendrame E, Ranganath T, Kong DS, Lundquist K, Nguyen T, Ogolla S, Black J, Galambos C, Gumbart JC, Dawany N, Kelsen JR, de Zoeten EF, Quinones R, Eissa H, Verneris MR, Sullivan KE, Rochford R, Blish CA, Kedl RM, Dutmer CM, Hsieh EWY. A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation. J Exp Med. 2019 06 03; 216(6):1255-1267.
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Pohl K, Nichols DP, Taylor-Cousar JL, Saavedra MT, Strand MJ, Nick JA, Bratcher PE. Corticosteroid use and increased CXCR2 levels on leukocytes are associated with lumacaftor/ivacaftor discontinuation in cystic fibrosis patients homozygous for the F508del CFTR mutation. PLoS One. 2018; 13(12):e0209026.
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Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, Ansar M, Ahmad W, Ahmed ZM, Leal SM. FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. J Bone Miner Res. 2019 02; 34(2):375-386.
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Kumar A, Asghar S, Kavanagh R, Wicklund MP. Unique presentation of rapidly fluctuating symptoms in a child with congenital myasthenic syndrome due to RAPSN mutation. Muscle Nerve. 2018 10; 58(4):E23-E24.
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Li A, Vigers T, Pyle L, Zemanick E, Nadeau K, Sagel SD, Chan CL. Continuous glucose monitoring in youth with cystic fibrosis treated with lumacaftor-ivacaftor. J Cyst Fibros. 2019 01; 18(1):144-149.
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Johnson EC, Evans LM, Keller MC. Relationships between estimated autozygosity and complex traits in the UK Biobank. PLoS Genet. 2018 07; 14(7):e1007556.
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