Influence of KIR gene copy number on natural killer cell education

Key Points KIR gene copy number variation influences NK cell education at the repertoire level due to a linear effect on KIR expression. No effect of KIR gene dose on NK cell education at the single cell level.

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Faculty Opinions recommendation of Diet and the evolution of human amylase gene copy number variation.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1092307.546722 ◽

2007 ◽

Author(s):

Magnus Ingelman-Sundberg

Keyword(s):

Copy Number Variation ◽

Copy Number ◽

Gene Copy Number ◽

Gene Copy ◽

Amylase Gene ◽

Gene Copy Number Variation ◽

Number Variation

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What a finding of gene copy number variation can add to the diagnosis of developmental neuropsychiatric disorders

Current Opinion in Genetics & Development ◽

10.1016/j.gde.2020.12.017 ◽

2021 ◽

Vol 68 ◽

pp. 18-25

Author(s):

Jacob Vorstman ◽

Stephen W Scherer

Keyword(s):

Copy Number Variation ◽

Copy Number ◽

Gene Copy Number ◽

Neuropsychiatric Disorders ◽

Gene Copy ◽

Gene Copy Number Variation ◽

Number Variation

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Induction of direct repeat recombination by psoralen–DNA adducts in Saccharomyces cerevisiae: Defects in DNA repair increase gene copy number variation

DNA Repair ◽

10.1016/j.dnarep.2014.05.011 ◽

2014 ◽

Vol 21 ◽

pp. 87-96 ◽

Cited By ~ 2

Author(s):

Wilma A. Saffran ◽

Anam Ahmed ◽

Olga Binyaminov ◽

Cynthia Gonzalez ◽

Amita Gupta ◽

...

Keyword(s):

Saccharomyces Cerevisiae ◽

Dna Repair ◽

Copy Number Variation ◽

Dna Adducts ◽

Copy Number ◽

Gene Copy Number ◽

Direct Repeat ◽

Gene Copy ◽

Gene Copy Number Variation ◽

Number Variation

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Genetic variability of CYP2D6, CYP3A4 and CYP3A5 among the Egyptian population

Pharmacogenomics ◽

10.2217/pgs-2020-0140 ◽

2021 ◽

Author(s):

Thuraya M Mutawi ◽

Mohamed M Zedan ◽

Raida S Yahya ◽

Mahmoud M Zakria ◽

Mamdouh R El-Sawi ◽

...

Keyword(s):

Genetic Variability ◽

Copy Number Variation ◽

Copy Number ◽

Middle Eastern ◽

Gene Copy Number ◽

Gene Copy ◽

Allelic Variants ◽

Gene Copy Number Variation ◽

Number Variation ◽

Study Participants

Aim: This study investigated major allelic variants of CYP2D6, CYP3A4 and CYP3A5 in Egyptians, an Arabic population for which there is little information regarding these important pharmacogenes. Patients & methods: CYP2D6*2, *4, *5, *10, *41 and gene copy number variation, as well as CYP3A4*22 and CYP3A5*3 were determined with commercially available TaqMan assays in 145 healthy study participants. Results: The CYP2D6 alleles identified suggest that the prevalence of poor metabolizers is low as none were found among the 145 subjects investigated. The frequency for CYP3A5 nonexpressers was 74.5% and the CYP3A4*22 allele frequency was low at 2.0%. Conclusion: These preliminary findings indicate that pharmacogene variation in Egyptians is different from those of other Middle Eastern/Arabic populations and warrants further investigation.

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