Human gene copy number variation and infectious disease

CCL3L1 copy number, CCR5genotype and susceptibility to tuberculosis

(2014) Danielle Carpenter et al.   BMC Medical Genetics

LILR-B1 blocks activating Fc R signaling to allow antibody dependent enhancement of dengue virus infection

(2014) F. Nimmerjahn et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2

(2013) Nobuhiko Okamoto et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Automated design of paralogue ratio test assays for the accurate and rapid typing of copy number variation

(2013) Colin D. Veal et al.   BIOINFORMATICS

A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein

(2013) Johanna Aigner et al.   BMC GENETICS

Accurate measurement of gene copy number for human alpha-defensin DEFA1A3

(2013) Fayeza F Khan et al.   BMC GENOMICS

CCL3L1 copy number, HIV load, and immune reconstitution in sub-Saharan Africans

(2013) Eleni Aklillu et al.   BMC INFECTIOUS DISEASES

Haptoglobin (HP) and Haptoglobin-related protein (HPR) copy number variation, natural selection, and trypanosomiasis

(2013) Robert J. Hardwick et al.   HUMAN GENETICS

Identification of Genetic Loci Associated With Helicobacter pylori Serologic Status

(2013) Julia Mayerle et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Using Mutagenesis and Structural Biology to Map the Binding Site for thePlasmodium falciparumMerozoite Protein PfRh4 on the Human Immune Adherence Receptor

(2013) Hyon Ju Park et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Crohn's Disease Loci Are Common Targets of Protozoa-Driven Selection

(2013) Rachele Cagliani et al.   MOLECULAR BIOLOGY AND EVOLUTION

Dengue Virus Neutralization in Cells Expressing Fc Gamma Receptors

(2013) Tanu Chawla et al.   PLoS One

Copy Number Variation of Fc Gamma Receptor Genes in HIV-Infected and HIV-Tuberculosis Co-Infected Individuals in Sub-Saharan Africa

(2013) Lee R. Machado et al.   PLoS One

Imputation-Based Meta-Analysis of Severe Malaria in Three African Populations

(2013) Gavin Band et al.   PLoS Genetics

Evolutionary History of Copy-Number-Variable Locus for the Low-Affinity Fcγ Receptor: Mutation Rate, Autoimmune Disease, and the Legacy of Helminth Infection

(2012) Lee R. Machado et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genomic Pathology of SLE-Associated Copy-Number Variation at the FCGR2C/FCGR3B/FCGR2B Locus

(2012) Michael Mueller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Associations between vaginal bacteria and levels of vaginal defensins in pregnant women

(2012) Caroline Mitchell et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Molecular and Population Analysis of Natural Selection on the Human Haptoglobin Duplication

(2012) Santiago Rodriguez et al.   ANNALS OF HUMAN GENETICS

Host Genetics of HIV Acquisition and Viral Control

(2012) Patrick R. Shea et al.   Annual Review of Medicine

Bacterial Colonization and Beta Defensins in the Female Genital Tract in HIV Infection

(2012) Wei Jiang et al.   CURRENT HIV RESEARCH

Replication stress and mechanisms of CNV formation

(2012) Martin F Arlt et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Copy number variation in autoimmunity - importance hidden in complexity?

(2012) Lina M. Olsson et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Association analysis of the CCL3L1 copy number locus by paralogue ratio test in Norwegian rheumatoid arthritis patients and healthy controls

(2012) G B N Nordang et al.   GENES AND IMMUNITY

Copy number variation detection and genotyping from exome sequence data

(2012) N. Krumm et al.   GENOME RESEARCH

Meta-analysis confirms a role for deletion in FCGR3B in autoimmune phenotypes

(2012) Cushla McKinney et al.   HUMAN MOLECULAR GENETICS

Confirmation of association ofFCGR3Bbut notFCGR3Acopy number with susceptibility to autoantibody positive rheumatoid arthritis

(2012) James I. Robinson et al.   HUMAN MUTATION

Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility

(2012) Stuart Cantsilieris et al.   HUMAN MUTATION

CCL3L gene copy number and survival in an HIV-1 infected Zimbabwean population

(2012) Margit Hørup Larsen et al.   INFECTION GENETICS AND EVOLUTION

CCL3L1 copy number and susceptibility to malaria

(2012) Danielle Carpenter et al.   INFECTION GENETICS AND EVOLUTION

 -defensin Genomic Copy Number Is Associated With HIV Load and Immune Reconstitution in Sub-Saharan Africans

(2012) R. J. Hardwick et al.   JOURNAL OF INFECTIOUS DISEASES

Association of β-Defensin Copy Number and Psoriasis in Three Cohorts of European Origin

(2012) Philip E. Stuart et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease

(2012) Luke Jostins et al.   NATURE

Impact of copy number variations (CNVs) on long-range gene regulation at the HoxD locus

(2012) T. Montavon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exploring the role of copy number variants in human adaptation

(2012) Rebecca C. Iskow et al.   TRENDS IN GENETICS

Low copy number of the FCGR3B gene and rheumatoid arthritis: a case-control study and meta-analysis

(2012) Scott W Graf et al.   ARTHRITIS RESEARCH & THERAPY

High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number

(2011) Benjamin J. Hindson et al.   ANALYTICAL CHEMISTRY

HLA/KIR Restraint of HIV: Surviving the Fittest

(2011) Arman A. Bashirova et al.   Annual Review of Immunology

Accuracy and differential bias in copy number measurement of CCL3L1 in association studies with three auto-immune disorders

(2011) Danielle Carpenter et al.   BMC GENOMICS

Complement receptor 1 and malaria

(2011) José A. Stoute   CELLULAR MICROBIOLOGY

Copy number variation of CCL3L1 influences asthma risk by modulating IL-10 expression

(2011) Haeyong Lee et al.   CLINICA CHIMICA ACTA

The Coalescent with Selection on Copy Number Variants

(2011) K. M. Teshima et al.   GENETICS

A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia

(2011) Robert J. Hardwick et al.   HUMAN MUTATION

Functional Characteristics of the High Affinity IgG Receptor, Fc RI

(2011) C. E. van der Poel et al.   JOURNAL OF IMMUNOLOGY

Phenotypic Variation in IgG Receptors by Nonclassical FCGR2C Alleles

(2011) J. van der Heijden et al.   JOURNAL OF IMMUNOLOGY

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

(2011) Dalila Pinto et al.   NATURE BIOTECHNOLOGY

Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease

(2011) Chiea Chuen Khor et al.   NATURE GENETICS

Ligation of Fc gamma receptor IIB inhibits antibody-dependent enhancement of dengue virus infection

(2011) K. R. Chan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Copy Number Variation of KIR Genes Influences HIV-1 Control

(2011) Kimberly Pelak et al.   PLOS BIOLOGY

The impact of CCL3L1 copy number in an HIV-1-infected white population

(2010) Erika Y Lee et al.   AIDS

Identification of Copy Number Variation Hotspots in Human Populations

(2010) Wenqing Fu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CCL20 and  -Defensin-2 Induce Arrest of Human Th17 Cells on Inflamed Endothelium In Vitro under Flow Conditions

(2010) S. Ghannam et al.   JOURNAL OF IMMUNOLOGY

CCL3L1Copy Number Is a Strong Genetic Determinant of HIV Seropositivity in Caucasian Intravenous Drug Users

(2010) Kristi Huik et al.   JOURNAL OF INFECTIOUS DISEASES

Fcγ Receptor IIIb (CD16b) Polymorphisms are Associated with Susceptibility to Idiopathic Pulmonary Fibrosis

(2010) Stylianos Bournazos et al.   LUNG

The hygiene hypothesis: an evolutionary perspective

(2010) Manuela Sironi et al.   MICROBES AND INFECTION

α-thalassaemia

(2010) Cornelis L Harteveld et al.   Orphanet Journal of Rare Diseases

Genetic Variation of the Fc Gamma Receptor 3B Gene and Association with Rheumatoid Arthritis

(2010) Rute B. Marques et al.   PLoS One

CCL3L1 Copy Number Variation and Susceptibility to HIV-1 Infection: A Meta-Analysis

(2010) SiJie Liu et al.   PLoS One

Complement receptor 1 is the host erythrocyte receptor for Plasmodium falciparum PfRh4 invasion ligand

(2010) W.-H. Tham et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Diversity of Human Copy Number Variation and Multicopy Genes

(2010) Peter H. Sudmant et al.   SCIENCE

Fcγ Receptor I Alpha Chain (CD64) Expression in Macrophages Is Critical for the Onset of Meningitis by Escherichia coli K1

(2010) Rahul Mittal et al.   PLoS Pathogens

Receptor targeting of hemoglobin mediated by the haptoglobins: roles beyond heme scavenging

(2009) M. J. Nielsen et al.   BLOOD

Copy number variation in the human genome and its implication in autoimmunity

(2009) H. Schaschl et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Low-affinity Fcγ receptors, autoimmunity and infection

(2009) Lisa C. Willcocks et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

An integrated approach for measuring copy number variation at theFCGR3(CD16) locus

(2009) Edward J. Hollox et al.   HUMAN MUTATION

Copy number variation at theFCGRlocus includesFCGR3A, FCGR2CandFCGR3Bbut notFCGR2AandFCGR2B

(2009) Willemijn B. Breunis et al.   HUMAN MUTATION

The extensive polymorphism of KIR genes

(2009) Derek Middleton et al.   IMMUNOLOGY

Lower copy numbers of the chemokine CCL3L1 gene in patients with chronic hepatitis C

(2009) Frank Grünhage et al.   JOURNAL OF HEPATOLOGY

A burst of segmental duplications in the genome of the African great ape ancestor

(2009) Tomas Marques-Bonet et al.   NATURE

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

Personalized copy number and segmental duplication maps using next-generation sequencing

(2009) Can Alkan et al.   NATURE GENETICS

CCL3L1 and HIV/AIDS susceptibility

(2009) Thomas J Urban et al.   NATURE MEDICINE

CCL3L1 and HIV/AIDS susceptibility

(2009) Tanmoy Bhattacharya et al.   NATURE MEDICINE

β-Defensin-2 Protein Is a Serum Biomarker for Disease Activity in Psoriasis and Reaches Biologically Relevant Concentrations in Lesional Skin

(2009) Patrick A. M. Jansen et al.   PLoS One

Allelic recombination between distinct genomic locations generates copy number diversity in human β-defensins

(2009) Suhaili Abu Bakar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dengue virus neutralization is modulated by IgG antibody subclass and Fcγ receptor subtype

(2009) W.W. Shanaka I. Rodrigo et al.   VIROLOGY

Copy number variation and evolution in humans and chimpanzees

(2008) G. H. Perry et al.   GENOME RESEARCH

Defensins and the dynamic genome: What we can learn from structural variation at human chromosome band 8p23.1

(2008) E. J. Hollox et al.   GENOME RESEARCH

Multiplex Paralogue Ratio Tests for accurate measurement of multiallelic CNVs

(2008) Susan Walker et al.   GENOMICS

Copy number ofFCGR3B,which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake

(2008) Lisa C. Willcocks et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Mapping and sequencing of structural variation from eight human genomes

(2008) Jeffrey M. Kidd et al.   NATURE

CCL3L1-CCR5 genotype influences durability of immune recovery during antiretroviral therapy of HIV-1–infected individuals

(2008) Sunil K Ahuja et al.   NATURE MEDICINE

A Haptoglobin-Hemoglobin Receptor Conveys Innate Immunity to Trypanosoma brucei in Humans

(2008) B. Vanhollebeke et al.   SCIENCE

CCL3L1 gene-containing segmental duplications and polymorphisms in CCR5 affect risk of systemic lupus erythaematosus

(2007) M Mamtani et al.   ANNALS OF THE RHEUMATIC DISEASES