Human copy number variation and complex genetic disease

S Girirajan, CD Campbell… - Annual review of genetics, 2011 - annualreviews.org
Copy number variants (CNVs) play an important role in human disease and population
diversity. Advancements in technology have allowed for the analysis of CNVs in thousands …

Human immunodeficiency virus type 1 long-term non-progressors: the viral, genetic and immunological basis for disease non-progression

K Poropatich, DJ Sullivan Jr - Journal of General Virology, 2011 - microbiologyresearch.org
A small subset of human immunodeficiency virus type 1 (HIV-1)-infected, therapy-naive
individuals–referred to as long-term non-progressors (LTNPs)–maintain a favourable course …

Diversity of human copy number variation and multicopy genes

PH Sudmant, JO Kitzman, F Antonacci, C Alkan… - Science, 2010 - science.org
Copy number variants affect both disease and normal phenotypic variation, but those lying
within heavily duplicated, highly identical sequence have been difficult to assay. By …

Common genetic variation and the control of HIV-1 in humans

J Fellay, D Ge, KV Shianna, S Colombo… - PLoS …, 2009 - journals.plos.org
To extend the understanding of host genetic determinants of HIV-1 control, we performed a
genome-wide association study in a cohort of 2,554 infected Caucasian subjects. The study …

Low CCR5 expression protects HIV-specific CD4+ T cells of elite controllers from viral entry

M Claireaux, R Robinot, J Kervevan… - Nature …, 2022 - nature.com
HIV elite controllers maintain a population of CD4+ T cells endowed with high avidity for Gag
antigens and potent effector functions. How these HIV-specific cells avoid infection and …

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) …

Host genes associated with HIV/AIDS: advances in gene discovery

P An, CA Winkler - Trends in genetics, 2010 - cell.com
Twenty-five years after the discovery of HIV as the cause of AIDS there is still no effective
vaccine and no cure for this disease. HIV susceptibility shows a substantial degree of …

CCR5 revisited: how mechanisms of HIV entry govern AIDS pathogenesis

A Brelot, LA Chakrabarti - Journal of Molecular Biology, 2018 - Elsevier
The chemokine receptor CCR5 has been the focus of intensive studies since its role as a
coreceptor for HIV entry was discovered in 1996. These studies lead to the development of …

Exploring the role of copy number variants in human adaptation

RC Iskow, O Gokcumen, C Lee - Trends in Genetics, 2012 - cell.com
Over the past decade, the ubiquity of copy number variants (CNVs, the gain or loss of
genomic material) in the genomes of healthy humans has become apparent. Although some …

Host and viral genetic correlates of clinical definitions of HIV-1 disease progression

C Casado, S Colombo, A Rauch, R Martínez… - PloS one, 2010 - journals.plos.org
Background Various patterns of HIV-1 disease progression are described in clinical practice
and in research. There is a need to assess the specificity of commonly used definitions of …