An evolutionary history of defensins: a role for copy number variation in maximizing host innate and adaptive immune responses

LR Machado, B Ottolini - Frontiers in immunology, 2015 - frontiersin.org
Defensins represent an evolutionary ancient family of antimicrobial peptides that play
diverse roles in human health and disease. Defensins are cationic cysteine-containing …

Human gene copy number variation and infectious disease

EJ Hollox, BP Hoh - Human genetics, 2014 - Springer
Variability in the susceptibility to infectious disease and its clinical manifestation can be
determined by variation in the environment and by genetic variation in the pathogen and the …

Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity

CL Usher, RE Handsaker, T Esko, MA Tuke… - Nature …, 2015 - nature.com
Hundreds of genes reside in structurally complex, poorly understood regions of the human
genome,,. One such region contains the three amylase genes (AMY2B, AMY2A and AMY1) …

Complex and multi-allelic copy number variation in human disease

CL Usher, SA McCarroll - Briefings in functional genomics, 2015 - academic.oup.com
Hundreds of copy number variants are complex and multi-allelic, in that they have many
structural alleles and have rearranged multiple times in the ancestors who contributed …

Comparison of a quantitative Real-Time PCR assay and droplet digital PCR for copy number analysis of the CCL4L genes

A Bharuthram, M Paximadis, ACP Picton… - Infection, Genetics and …, 2014 - Elsevier
The controversy surrounding the findings that copy number variation, of the CCL3 encoding
genes, influences HIV-1 infection and disease progression has been in part attributed to the …

Determinants of antenatal care utilization in Arsi Zone, Central Ethiopia

M Mesfin, J Farrow - Ethiopian Journal Of Health Development, 1996 - ajol.info
A community based cross sectional study was carried out in Arsi Zone to document the
pattern of utilization of antenatal care (ANC) and to investigate factors that affect women's …

Genetics of Sub‐Saharan African human population: implications for HIV/AIDS, tuberculosis, and malaria

G Mboowa - International journal of evolutionary biology, 2014 - Wiley Online Library
Sub‐Saharan Africa has continued leading in prevalence and incidence of major infectious
disease killers such as HIV/AIDS, tuberculosis, and malaria. Epidemiological triad of …

Defensin gene variation and HIV/AIDS: a comprehensive perspective needed

RK Mehlotra, PA Zimmerman… - Journal of Leucocyte …, 2016 - academic.oup.com
Both α-and β-defensins have anti–human immunodeficiency virus activity. These defensins
achieve human immunodeficiency virus inhibition through a variety of mechanisms …

Analysis of copy number variation using the paralogue ratio test (PRT)

EJ Hollox - Genotyping: Methods and Protocols, 2017 - Springer
Copy number variation (CNV), where a segment of DNA differs in copy number between
different individuals, is an extensive and often underappreciated source of genetic variation …

Population genetics of immune-related multilocus copy number variation in Native Americans

LW Zuccherato, S Schneider… - Journal of the …, 2017 - royalsocietypublishing.org
While multiallelic copy number variation (mCNV) loci are a major component of genomic
variation, quantifying the individual copy number of a locus and defining genotypes is …