Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

Mechanisms of regulation of the chemokine-receptor network

MJ Stone, JA Hayward, C Huang, Z E. Huma… - International journal of …, 2017 - mdpi.com
The interactions of chemokines with their G protein-coupled receptors promote the migration
of leukocytes during normal immune function and as a key aspect of the inflammatory …

The major genetic determinants of HIV-1 control affect HLA class I peptide presentation

International HIV Controllers Study - Science, 2010 - science.org
Infectious and inflammatory diseases have repeatedly shown strong genetic associations
within the major histocompatibility complex (MHC); however, the basis for these associations …

Chemokine receptors as HIV-1 coreceptors: roles in viral entry, tropism, and disease

EA Berger, PM Murphy, JM Farber - Annual review of …, 1999 - annualreviews.org
▪ Abstract In addition to CD4, the human immunodeficiency virus (HIV) requires a coreceptor
for entry into target cells. The chemokine receptors CXCR4 and CCR5, members of the G …

Human genetic susceptibility to infectious disease

SJ Chapman, AVS Hill - Nature Reviews Genetics, 2012 - nature.com
Recent genome-wide studies have reported novel associations between common
polymorphisms and susceptibility to many major infectious diseases in humans. In parallel …

Gene–environment interactions in human diseases

DJ Hunter - Nature reviews genetics, 2005 - nature.com
Studies of gene–environment interactions aim to describe how genetic and environmental
factors jointly influence the risk of developing a human disease. Gene–environment …

Gene–environment interactions in psychiatry: joining forces with neuroscience

A Caspi, TE Moffitt - Nature Reviews Neuroscience, 2006 - nature.com
Gene–environment interaction research in psychiatry is new, and is a natural ally of
neuroscience. Mental disorders have known environmental causes, but there is …

Pharmacogenetics, pharmacogenomics, and individualized medicine

Q Ma, AYH Lu, DR Sibley - Pharmacological reviews, 2011 - Elsevier
Individual variability in drug efficacy and drug safety is a major challenge in current clinical
practice, drug development, and drug regulation. For more than 5 decades, studies of …

HLA and HIV-1: Heterozygote Advantage and B*35-Cw*04 Disadvantage

M Carrington, GW Nelson, MP Martin, T Kissner… - Science, 1999 - science.org
A selective advantage against infectious disease associated with increased heterozygosity
at the human major histocompatibility complex [human leukocyte antigen (HLA) class I and …

HLA B* 5701 is highly associated with restriction of virus replication in a subgroup of HIV-infected long term nonprogressors

SA Migueles, MS Sabbaghian… - Proceedings of the …, 2000 - National Acad Sciences
A unique cohort of HIV-1-infected long term nonprogressors (LTNP) with normal CD4+ T cell
counts and< 50 copies/ml of plasma were prospectively recruited for study. HLA typing …