Genomic modulators of the immune response.
TLDR
Progress is described in the study of rare variants and primary immunodeficiency diseases arising from whole-exome sequencing (WES) and the application, success, and challenges of applying genome-wide association studies (GWAS) to disorders of immune function and how they may inform more rational use of therapeutics are discussed.About:
This article is published in Trends in Genetics.The article was published on 2013-02-01 and is currently open access. It has received 58 citations till now. The article focuses on the topics: Primary immunodeficiency & Immune system.read more
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Systems analysis of sex differences reveals an immunosuppressive role for testosterone in the response to influenza vaccination
David Furman,Boris P. Hejblum,Noah Simon,Vladimir Jojic,Cornelia L. Dekker,Rodolphe Thiébaut,Robert Tibshirani,Mark M. Davis +7 more
TL;DR: A system analysis of the neutralizing antibody response to a trivalent inactivated seasonal influenza vaccine and a large number of immune system components finds a strong association between androgens and genes involved in lipid metabolism, suggesting that these could be important drivers of the differences in immune responses between males and females.
Journal ArticleDOI
Metabolic features of the cell danger response.
TL;DR: An understanding of the cell danger response permits us to reframe old concepts of pathogenesis for a broad array of chronic, developmental, autoimmune, and degenerative disorders.
Journal ArticleDOI
Human genetics of tuberculosis: a long and winding road
Laurent Abel,Jamila El-Baghdadi,Ahmed Aziz Bousfiha,Jean-Laurent Casanova,Jean-Laurent Casanova,Jean-Laurent Casanova,Erwin Schurr +6 more
TL;DR: In this paper, the authors identify a major locus controlling resistance to infection with M. tuberculosis and prove that severe TB of childhood can result from single-gene inborn errors of interferon-γ immunity.
Journal ArticleDOI
Association of Parkinson disease with structural and regulatory variants in the HLA region.
William T. Wissemann,Erin M. Hill-Burns,Cyrus P. Zabetian,Stewart A. Factor,Nikolaos A. Patsopoulos,Nikolaos A. Patsopoulos,Bryan Hoglund,Cherie Holcomb,Ryan J. Donahue,Glenys Thomson,Henry A. Erlich,Henry A. Erlich,Haydeh Payami,Haydeh Payami +13 more
TL;DR: It is shown here that several HLA-region SNPs that have since been associated with PD form two blocks tagged by rs3129882 and rs2395163, suggesting that HLA gene expression might influence PD and that noncoding SNPs in the HLA region can be associated with disease irrespective of HLA alleles.
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Systemic attenuation of the TGF-β pathway by a single drug simultaneously rejuvenates hippocampal neurogenesis and myogenesis in the same old mammal
Hanadie Yousef,Michael J. Conboy,Adam Morgenthaler,Christina Schlesinger,Lukasz J. Bugaj,Preeti Paliwal,Christopher Greer,Irina M. Conboy,David V. Schaffer,David V. Schaffer,David V. Schaffer +10 more
TL;DR: This work demonstrates that aging imposes an elevation in transforming growth factor β (TGF-β) signaling in the neurogenic niche of the hippocampus, analogous to the previously demonstrated changes in the myogenic niche of skeletal muscle with age.
References
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An integrated encyclopedia of DNA elements in the human genome
TL;DR: The Encyclopedia of DNA Elements project provides new insights into the organization and regulation of the authors' genes and genome, and is an expansive resource of functional annotations for biomedical research.
Journal Article
An integrated encyclopedia of DNA elements in the human genome.
TL;DR: The Encyclopedia of DNA Elements project provides new insights into the organization and regulation of the authors' genes and genome, and is an expansive resource of functional annotations for biomedical research.
Journal ArticleDOI
A Map of Human Genome Variation From Population-Scale Sequencing
Gonçalo R. Abecasis,David Altshuler,David Altshuler,Adam Auton,Lisa D Brooks,Richard Durbin,Richard A. Gibbs,Matthew E. Hurles,Gil McVean +8 more
TL;DR: The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype as mentioned in this paper, and the results of the pilot phase of the project, designed to develop and compare different strategies for genomewide sequencing with high-throughput platforms.
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Table S2: Trans-factors and trinucleotide repeat instability Trans-factor
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The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.
Craig L. Bennett,Jacinda R. Christie,Fred Ramsdell,Mary E. Brunkow,Polly J. Ferguson,Luke Whitesell,Thaddeus E. Kelly,Frank T. Saulsbury,Phillip F. Chance,Hans D. Ochs +9 more
TL;DR: Genetic evidence is presented that different mutations of the human gene FOXP3, the ortholog of the gene mutated in scurfy mice (Foxp3), causes IPEX syndrome.