Hemizygote

"Hemizygote" 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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

An individual having only one allele at a given locus because of the loss of the other allele through a mutation (e.g., CHROMOSOME DELETION).

Descriptor ID

D057898

MeSH Number(s)

G05.380.371

Concept/Terms

Hemizygote

Below are MeSH descriptors whose meaning is more general than "Hemizygote".

Biological Sciences [G]
Genetic Phenomena [G05]
Genotype [G05.380]
Hemizygote [G05.380.371]

Below are MeSH descriptors whose meaning is related to "Hemizygote".

Below are MeSH descriptors whose meaning is more specific than "Hemizygote".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Hemizygote" by people in Harvard Catalyst Profiles by year, and whether "Hemizygote" was a major or minor topic of these publication.

Bar chart showing 12 publications over 8 distinct years, with a maximum of 2 publications in 2012 and 2015 and 2016 and 2017

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2011	0	1	1
2012	1	1	2
2013	0	1	1
2015	0	2	2
2016	1	1	2
2017	1	1	2
2021	0	1	1
2022	0	1	1

Below are the most recent publications written about "Hemizygote" by people in Profiles.

Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genet Med. 2022 09; 24(9):1941-1951.

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Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes. Am J Med Genet A. 2021 12; 185(12):3784-3792.

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Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene. BMC Med Genet. 2020 02 21; 21(1):38.

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Snap29 mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome. Commun Biol. 2019; 2:375.

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ABCD1 dysfunction alters white matter microvascular perfusion. Brain. 2017 Dec 01; 140(12):3139-3152.

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Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 02 28; 45(4):1633-1648.

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Hemizygous Deletion on Chromosome 3p26.1 Is Associated with Heavy Smoking among African American Subjects in the COPDGene Study. PLoS One. 2016; 11(10):e0164134.

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To Break or Not To Break: Sex Chromosome Hemizygosity During Meiosis in Caenorhabditis. Genetics. 2016 11; 204(3):999-1013.

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Modulation of splicing catalysis for therapeutic targeting of leukemia with mutations in genes encoding spliceosomal proteins. Nat Med. 2016 06; 22(6):672-8.

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Xist imprinting is promoted by the hemizygous (unpaired) state in the male germ line. Proc Natl Acad Sci U S A. 2015 Nov 24; 112(47):14415-22.

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