A copy number variation map of the human genome

M Zarrei, JR MacDonald, D Merico… - Nature reviews …, 2015 - nature.com
A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …

The clinical context of copy number variation in the human genome

C Lee, SW Scherer - Expert reviews in molecular medicine, 2010 - cambridge.org
During the past five years, copy number variation (CNV) has emerged as a highly prevalent
form of genomic variation, bridging the interval between long-recognised microscopic …

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) …

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 …

The evolution of mammalian chemokine genes

H Nomiyama, N Osada, O Yoshie - Cytokine & growth factor reviews, 2010 - Elsevier
Chemokines play an important role in orchestrating cell recruitment and localization in both
physiological and pathological conditions. More than 44 ligands have been identified in the …

A child with perinatal HIV infection and long-term sustained virological control following antiretroviral treatment cessation

A Violari, MF Cotton, L Kuhn, DB Schramm… - Nature …, 2019 - nature.com
Understanding HIV remission in rare individuals who initiated antiretroviral therapy (ART)
soon after infection and then discontinued, may inform HIV cure interventions. Here we …

Overview of the mechanisms regulating chemokine activity and availability

A Mortier, J Van Damme, P Proost - Immunology letters, 2012 - Elsevier
Physiological leukocyte homing and extravasation of leukocytes during inflammatory
processes is directed by a number of proteins including adhesion molecules, proteases …

CD26/dipeptidylpeptidase IV—chemokine interactions: double-edged regulation of inflammation and tumor biology

A Mortier, M Gouwy, J Van Damme… - Journal of Leucocyte …, 2016 - academic.oup.com
Post-translational modification of chemokines is an essential regulatory mechanism to
enhance or dampen the inflammatory response. CD26/dipeptidylpeptidase IV, ubiquitously …

Association of copy number variation in the FCGR3B gene with risk of autoimmune diseases

M Mamtani, JM Anaya, W He, SK Ahuja - Genes & Immunity, 2010 - nature.com
Copy number variation (CNV) in the human genome is an important determinant of
susceptibility to autoimmune diseases. Many autoimmune diseases share similar clinical …

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 …